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
ABCA12	26154	broad.mit.edu	37	2	215835096	215835096	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:215835096G>A	ENST00000272895.7	-	37	5810	c.5591C>T	c.(5590-5592)cCg>cTg	p.P1864L	ABCA12_ENST00000389661.4_Missense_Mutation_p.P1546L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1864					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTCTGTGCGGTGGGGAATA	0.358		NA											G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.0014	SNP	Ovarian(66;664 1488 5121 34295)							NA				0								G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	94	95	95		4637,5591	5.3	1	2		95	0,8600		0,0,4300	no	missense,missense	ABCA12	NM_015657.3,NM_173076.2	98,98	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	1546/2278,1864/2596	215835096	1,13005	2203	4300	6503	SO:0001583	missense			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452	26154	26154		ATP binding cassette transporters / subfamily A	14637	protein-coding gene	gene with protein product		607800	ichthyosis congenita II, lamellar ichthyosis B	ICR2B	NA	11435397, 12915478, 8845852, 10094194	Standard	NM_173076	NM_015657	NA	Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5591C>T	2.37:g.215835096G>A	ENSP00000272895:p.Pro1864Leu	NA	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	37	CCDS33372.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.7	4.669881	0.88348	2.27E-4	0.0	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.96300	-3.97;-3.88	5.29	5.29	0.74685	.	0.000000	0.51477	D	0.000093	D	0.98071	0.9364	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98850	1.0758	10	0.87932	D	0	.	18.9084	0.92472	0.0:0.0:1.0:0.0	.	1864;1546	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	1864;1546	ENSP00000272895:P1864L;ENSP00000374312:P1546L	ENSP00000272895:P1864L	P	-	2	0	ABCA12	215543341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.752000	0.85141	2.640000	0.89533	0.650000	0.86243	CCG	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337111.1		-	ENST00000272895.7	Missense_Mutation	SNP	2 : 215835096 - 215835096 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	502	89
ACE2	59272	broad.mit.edu	37	X	15582310	15582310	+	Missense_Mutation	SNP	G	G	A	rs144869363	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:15582310G>A	ENST00000252519.3	-	17	2248	c.2146C>T	c.(2146-2148)Cgt>Tgt	p.R716C	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000427411.1_Missense_Mutation_p.R716C			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	716					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCATTCAGACGGAAAGCATCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,3834		0,0,1,1632,570	167	152	157		2146	0.1	0	X	dbSNP_134	157	0,6728		0,0,0,2428,1872	no	missense	ACE2	NM_021804.2	180	0,0,1,4060,2442	AA,AG,A,GG,G	NA	0.0,0.0261,0.0095	possibly-damaging	716/806	15582310	1,10562	2203	4300	6503	SO:0001583	missense			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	59272	59272	3.4.17.23		13557	protein-coding gene	gene with protein product	peptidyl-dipeptidase A	300335	angiotensin I converting enzyme (peptidyl-dipeptidase A) 2		NA	10969042	Standard		NM_021804	NA	Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2146C>T	X.37:g.15582310G>A	ENSP00000252519:p.Arg716Cys	NA	Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320166	0.23994	2.61E-4	0.0	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.85484	-1.99;-1.99	6.16	0.0817	0.14425	.	0.653399	0.16598	N	0.207475	D	0.84325	0.5447	M	0.77616	2.38	0.09310	N	1	D	0.56287	0.975	P	0.46339	0.513	T	0.76586	-0.2905	10	0.87932	D	0	1.1293	7.4363	0.27158	0.0666:0.5122:0.2256:0.1956	.	716	Q9BYF1	ACE2_HUMAN	C	716	ENSP00000252519:R716C;ENSP00000389326:R716C	ENSP00000252519:R716C	R	-	1	0	ACE2	15492231	0.293000	0.24371	0.002000	0.10522	0.004000	0.04260	0.501000	0.22578	-0.455000	0.07054	-1.092000	0.02172	CGT	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055867.1		-	ENST00000252519.3	Missense_Mutation	SNP	X : 15582310 - 15582310 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	618	136
ADAMTS7	11173	broad.mit.edu	37	15	79067130	79067130	+	Missense_Mutation	SNP	T	T	C	rs138755716		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:79067130T>C	ENST00000388820.4	-	12	1922	c.1712A>G	c.(1711-1713)aAa>aGa	p.K571R	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	571	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTTTGTATTTGGGCCTGTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	ARG/LYS	1,4391	2.1+/-5.4	0,1,2195	53	63	59		1712	2.4	1	15	dbSNP_134	59	0,8586		0,0,4293	no	missense	ADAMTS7	NM_014272.3	26	0,1,6488	CC,CT,TT	NA	0.0,0.0228,0.0077	possibly-damaging	571/1687	79067130	1,12977	2196	4293	6489	SO:0001583	missense			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378	11173	11173		ADAM metallopeptidases with thrombospondin type 1 motif	223	protein-coding gene	gene with protein product	COMPase, a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein	605009	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7		NA	10464288	Standard	NM_014272	NM_014272	NA	Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1712A>G	15.37:g.79067130T>C	ENSP00000373472:p.Lys571Arg	NA	Q14F51|Q6P7J9	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.181649	0.38511	2.28E-4	0.0	ENSG00000136378	ENST00000388820	T	0.03553	3.89	3.51	2.38	0.29361	.	0.182461	0.45867	N	0.000336	T	0.03178	0.0093	L	0.28400	0.85	0.32541	N	0.53364	B;P	0.40681	0.057;0.727	B;B	0.40506	0.1;0.331	T	0.42916	-0.9423	10	0.28530	T	0.3	.	7.5384	0.27723	0.0:0.1086:0.0:0.8914	.	571;571	A8MQ00;Q9UKP4	.;ATS7_HUMAN	R	571	ENSP00000373472:K571R	ENSP00000373472:K571R	K	-	2	0	ADAMTS7	76854185	1.000000	0.71417	0.996000	0.52242	0.159000	0.22180	3.194000	0.51005	0.565000	0.29255	0.240000	0.17902	AAA	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421331.1		-	ENST00000388820.4	Missense_Mutation	SNP	15 : 79067130 - 79067130 C PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	224	6
AMOT	154796	broad.mit.edu	37	X	112048283	112048283	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:112048283C>T	ENST00000304758.1	-	6	1236	c.441G>A	c.(439-441)gcG>gcA	p.A147A	AMOT_ENST00000371962.1_Silent_p.A324A|AMOT_ENST00000524145.1_Silent_p.A556A|AMOT_ENST00000371959.3_Silent_p.A556A|AMOT_ENST00000371958.1_Silent_p.A324A	NM_133265.2	NP_573572.1	Q4VCS5	AMOT_HUMAN	angiomotin	556					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGGCCAGCTCCGCTTCCAGCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													253	218	230			NA	NA	X		NA											NA				112048283		2203	4300	6503	SO:0001819	synonymous_variant			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016	154796	154796			17810	protein-coding gene	gene with protein product		300410			NA	11257124, 16043488, 12406577	Standard	NM_133265	NM_001113490	NA	Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000304758.1:c.441G>A	X.37:g.112048283C>T		NA	Q504X5|Q9HD27|Q9UPT1	37	CCDS14563.1																																																																																			AMOT-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057950.1		-	ENST00000304758.1	Silent	SNP	X : 112048283 - 112048283 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	843	496
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C	NA								p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				9	Substitution - Missense(9)	kidney(6)|lung(3)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501	400986	400986		Ankyrin repeat domain containing	32946	protein-coding gene	gene with protein product	protein immuno-reactive with anti-PTH polyclonal antibodies				NA		Standard	NM_001010914	XR_251121	NA	Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg	NA		37		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338799.2		-	ENST00000456556.1	Missense_Mutation	SNP	2 : 96521777 - 96521777 C PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	228	6
ARID2	196528	broad.mit.edu	37	12	46231283	46231283	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:46231283A>G	ENST00000334344.6	+	10	1295	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.M226V|ARID2_ENST00000444670.1_Missense_Mutation_p.M4V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	375					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTCAGGCATGGAAATTTT	0.308		NA	N, S, F		hepatocellular carcinoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													87	86	86			NA	NA	12		NA											NA				46231283		2203	4300	6503	SO:0001583	missense				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079	196528	196528		-	18037	protein-coding gene	gene with protein product		609539			NA		Standard	XM_350875	NM_152641	NA	Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1123A>G	12.37:g.46231283A>G	ENSP00000335044:p.Met375Val	NA	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065763	0.55539	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.43294	0.95;0.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	L	0.59436	1.845	0.80722	D	1	P;P;P	0.52577	0.954;0.799;0.865	D;P;P	0.66351	0.943;0.468;0.824	T	0.63233	-0.6683	10	0.72032	D	0.01	-9.3805	15.3006	0.73949	1.0:0.0:0.0:0.0	.	375;226;375	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	V	375;226;4	ENSP00000335044:M375V;ENSP00000415650:M226V	ENSP00000335044:M375V	M	+	1	0	ARID2	44517550	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.339000	0.96797	2.011000	0.59026	0.260000	0.18958	ATG	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318380.2		+	ENST00000334344.6	Missense_Mutation	SNP	12 : 46231283 - 46231283 G PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	741	159
ATRIP	84126	broad.mit.edu	37	3	48491541	48491541	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:48491541G>A	ENST00000412052.1	+	2	529	c.67G>A	c.(67-69)Gta>Ata	p.V23I	ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000320211.3_Missense_Mutation_p.V116I|ATRIP_ENST00000346691.4_Missense_Mutation_p.V116I	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	116					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAATTAGAGGTACTTCAGGC	0.333		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	90	88			NA	NA	3		NA											NA				48491541		2203	4298	6501	SO:0001583	missense			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053	84126	84126			33499	protein-coding gene	gene with protein product		606605			NA	11721054	Standard	NM_130384	NM_130384	NA	Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000412052.1:c.67G>A	3.37:g.48491541G>A	ENSP00000400930:p.Val23Ile	NA	A8K6A3|A8K714|B2RCE7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	37	CCDS59449.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007454	0.35415	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000412052	T;T;T;T	0.78126	-1.15;1.43;1.43;1.44	5.51	-2.4	0.06583	.	1.023550	0.07743	N	0.947318	T	0.70159	0.3192	M	0.61703	1.905	0.43953	D	0.996621	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.56739	-0.7929	10	0.42905	T	0.14	-0.3582	5.7328	0.18049	0.1973:0.0:0.3847:0.418	.	116;116	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	I	23;116;116;23	ENSP00000406664:V23I;ENSP00000323099:V116I;ENSP00000302338:V116I;ENSP00000400930:V23I	ENSP00000323099:V116I	V	+	1	0	ATRIP	48466545	0.925000	0.31364	0.646000	0.29493	0.967000	0.64934	0.191000	0.17076	-0.420000	0.07427	0.655000	0.94253	GTA	ATRIP-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344694.2		+	ENST00000412052.1	Missense_Mutation	SNP	3 : 48491541 - 48491541 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	621	250
C14orf39	317761	broad.mit.edu	37	14	60945081	60945081	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:60945081C>T	ENST00000321731.3	-	5	419	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	87										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTCATGTTTACGAAAAACATC	0.264		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	14		NA											NA				60945081		2201	4297	6498	SO:0001583	missense			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008	317761	317761			19849	protein-coding gene	gene with protein product					NA		Standard	NM_174978	NM_174978	NA	Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.260G>A	14.37:g.60945081C>T	ENSP00000324920:p.Arg87His	NA		37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.886518	0.00527	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.41400	2.02;1.0	5.56	1.87	0.25490	.	0.424204	0.24945	N	0.034343	T	0.11580	0.0282	N	0.01109	-1.01	0.19575	N	0.999969	B	0.06786	0.001	B	0.01281	0.0	T	0.36720	-0.9736	10	0.02654	T	1	-3.7283	8.5196	0.33268	0.0:0.2298:0.0:0.7702	.	87	Q8N1H7	S6OS1_HUMAN	H	87;58;87	ENSP00000324920:R87H;ENSP00000451665:R58H	ENSP00000324920:R87H	R	-	2	0	C14orf39	60014834	0.995000	0.38212	0.999000	0.59377	0.003000	0.03518	0.079000	0.14782	0.142000	0.18901	-1.969000	0.00466	CGT	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276948.1		-	ENST00000321731.3	Missense_Mutation	SNP	14 : 60945081 - 60945081 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	233	44
C1orf173	0	broad.mit.edu	37	1	75037471	75037471	+	Missense_Mutation	SNP	G	G	A	rs138615520		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:75037471G>A	ENST00000326665.5	-	14	4141	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN		1308	Glu-rich.							p.A1308V(1)		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						GTCCTGCATCGCTTCTGTCTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											260	219	233			NA	NA	1		NA											NA				75037471		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000326665.5:c.3923C>T	1.37:g.75037471G>A	ENSP00000322609:p.Ala1308Val	NA	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	0.460	-0.889610	0.02511	.	.	ENSG00000178965	ENST00000326665	T	0.09723	2.95	3.58	-4.77	0.03219	.	.	.	.	.	T	0.00967	0.0032	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	9	0.28530	T	0.3	-0.0061	3.7935	0.08730	0.4175:0.0:0.3159:0.2666	.	1308	Q5RHP9	CA173_HUMAN	V	1308	ENSP00000322609:A1308V	ENSP00000322609:A1308V	A	-	2	0	C1orf173	74810059	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.543000	0.06084	-0.741000	0.04797	-0.672000	0.03802	GCG	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026516.1		-	ENST00000326665.5	Missense_Mutation	SNP	1 : 75037471 - 75037471 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	920	124
CAPNS1	826	broad.mit.edu	37	19	36633201	36633201	+	Splice_Site	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:36633201G>A	ENST00000246533.3	+	3	807		c.e3-1		CAPNS1_ENST00000587718.1_Splice_Site|CAPNS1_ENST00000588780.1_Splice_Site|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Splice_Site|CAPNS1_ENST00000590874.1_Splice_Site	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	NA					positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCTTCGCAGCGAGGCGGCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(129;1541 1691 5780 18353 34150)							NA				0													55	65	61			NA	NA	19		NA											NA				36633201		2203	4300	6503	SO:0001630	splice_region_variant			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	826	826	3.4.22.52	EF-hand domain containing	1481	protein-coding gene	gene with protein product		114170		CAPN4	NA	3024120, 3016651	Standard		NM_001003962	NA	Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.210-1G>A	19.37:g.36633201G>A		NA	A8K0P1|Q8WTX3|Q96EW0	37	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978756	0.53720	.	.	ENSG00000126247	ENST00000246533	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5225	0.67859	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPNS1	41325041	1.000000	0.71417	0.968000	0.41197	0.522000	0.34438	5.289000	0.65656	2.564000	0.86499	0.561000	0.74099	.	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457411.2	Intron	+	ENST00000246533.3	Splice_Site	SNP	19 : 36633201 - 36633201 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	706	192
CDC14A	8556	broad.mit.edu	37	1	100843110	100843110	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:100843110C>A	ENST00000336454.3	+	3	504	c.149C>A	c.(148-150)gCa>gAa	p.A50E	CDC14A_ENST00000361544.6_Missense_Mutation_p.A50E|CDC14A_ENST00000370125.2_Missense_Mutation_p.A50E|CDC14A_ENST00000370124.3_Missense_Mutation_p.A50E|CDC14A_ENST00000544534.1_Missense_Mutation_p.A50E|CDC14A_ENST00000542213.1_5'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	50	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGTTTCTATGCAGATTTTGGA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	79	80			NA	NA	1		NA											NA				100843110		2203	4300	6503	SO:0001583	missense			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335	8556	8556		Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s	1718	protein-coding gene	gene with protein product		603504	CDC10 (cell division cycle 10, S. cerevisiae, homolog), CDC14 cell division cycle 14 homolog A (S. cerevisiae)		NA	9367992, 10409437	Standard	NM_033312	NM_033312	NA	Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.149C>A	1.37:g.100843110C>A	ENSP00000336739:p.Ala50Glu	NA	B1AQ14|B1AQ15|O43171|O60727|O60728|Q8IXX0	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988957	0.53934	.	.	ENSG00000079335	ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	M	0.65677	2.01	0.80722	D	1	P;B;P;P;B	0.37708	0.471;0.091;0.471;0.606;0.055	B;B;B;B;B	0.33799	0.082;0.041;0.118;0.17;0.018	T	0.17077	-1.0381	10	0.38643	T	0.18	-14.0376	18.4654	0.90752	0.0:1.0:0.0:0.0	.	50;50;50;50;50	A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	E	51;50;50;50;50;50	ENSP00000388501:A51E;ENSP00000359143:A50E;ENSP00000354916:A50E;ENSP00000359142:A50E;ENSP00000336739:A50E;ENSP00000442543:A50E	ENSP00000336739:A50E	A	+	2	0	CDC14A	100615698	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.228000	0.58619	2.660000	0.90430	0.455000	0.32223	GCA	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030220.1		+	ENST00000336454.3	Missense_Mutation	SNP	1 : 100843110 - 100843110 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	272	31
CGNL1	84952	broad.mit.edu	37	15	57823890	57823890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:57823890delC	ENST00000281282.5	+	14	3282	c.3204delC	c.(3202-3204)gacfs	p.D1068fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1068				D -> A (in Ref. 1; AAT37906).		myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTTCTTAGGACAAGGTGTCTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	160	160			NA	NA	15		NA											NA				57823890		2192	4292	6484	SO:0001589	frameshift_variant			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849	84952	84952			25931	protein-coding gene	gene with protein product		607856			NA	11214970	Standard	NM_032866	NM_001252335	NA	Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3204delC	15.37:g.57823890delC	ENSP00000281282:p.Asp1068fs	NA	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	37	CCDS10161.1																																																																																			CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255482.2		+	ENST00000281282.5	Frame_Shift_Del	DEL	15 : 57823890 - 57823890 - PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	807	190
COL6A2	1292	broad.mit.edu	37	21	47538549	47538549	+	Missense_Mutation	SNP	C	C	T	rs142880107		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:47538549C>T	ENST00000300527.4	+	13	1242	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	COL6A2_ENST00000310645.5_Missense_Mutation_p.R380C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R380C|COL6A2_ENST00000409416.1_Missense_Mutation_p.R380C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R380C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	380	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCCCAGGACGCAGAGGGCC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG,CYS/ARG	1,4397	2.1+/-5.4	0,1,2198	27	30	29		1138,1138,1138	4.7	1	21	dbSNP_134	29	0,8590		0,0,4295	no	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	180,180,180	0,1,6493	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	380/1020,380/919,380/829	47538549	1,12987	2199	4295	6494	SO:0001583	missense			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173	NA	1292		Collagens	2212	protein-coding gene	gene with protein product		120240			NA		Standard		NM_001849	NA	Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1138C>T	21.37:g.47538549C>T	ENSP00000300527:p.Arg380Cys	NA	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040552	0.55003	2.27E-4	0.0	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.93426	-3.2;-3.2;-3.22;-3.22;-3.2	4.69	4.69	0.59074	.	0.053823	0.64402	D	0.000001	D	0.95987	0.8693	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.987;0.978	D	0.96089	0.9060	10	0.52906	T	0.07	-16.3159	16.6052	0.84826	0.0:1.0:0.0:0.0	.	380;380;380	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	C	380	ENSP00000300527:R380C;ENSP00000350497:R380C;ENSP00000312529:R380C;ENSP00000387115:R380C;ENSP00000380870:R380C	ENSP00000300527:R380C	R	+	1	0	COL6A2	46362977	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.537000	0.60643	2.151000	0.67156	0.591000	0.81541	CGC	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206971.1		+	ENST00000300527.4	Missense_Mutation	SNP	21 : 47538549 - 47538549 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	111	36
DNAI2	64446	broad.mit.edu	37	17	72308199	72308199	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:72308199C>T	ENST00000579490.1	+	11	1858	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	DNAI2_ENST00000307504.5_Missense_Mutation_p.R375W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R506W|DNAI2_ENST00000311014.6_Missense_Mutation_p.R518W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R518W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	518					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGGAGATGCGGCTGAAGGA	0.657		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	52	54			NA	NA	17		NA											NA				72308199		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595	64446	64446		Axonemal dyneins, WD repeat domain containing	18744	protein-coding gene	gene with protein product	dynein intermediate chain 2	605483	dynein, axonemal, intermediate polypeptide 2		NA	11153919, 21953912	Standard	NM_023036	NM_023036	NA	Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000579490.1:c.1723C>T	17.37:g.72308199C>T	ENSP00000464197:p.Arg575Trp	NA	C9J0S6|Q8IUW4|Q9H179|Q9NT53	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.195638	0.78902	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.34859	1.34;1.34;1.34	4.62	3.64	0.41730	.	0.058074	0.64402	D	0.000001	T	0.64527	0.2606	M	0.90705	3.14	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	T	0.71361	-0.4616	10	0.87932	D	0	-34.1547	12.0007	0.53228	0.315:0.685:0.0:0.0	.	518	Q9GZS0	DNAI2_HUMAN	W	518;375;518	ENSP00000308312:R518W;ENSP00000302929:R375W;ENSP00000400252:R518W	ENSP00000302929:R375W	R	+	1	2	DNAI2	69819794	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.401000	0.44513	0.950000	0.37743	0.485000	0.47835	CGG	DNAI2-004	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000442538.1		+	ENST00000579490.1	Missense_Mutation	SNP	17 : 72308199 - 72308199 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	200	5
DYSF	8291	broad.mit.edu	37	2	71795377	71795377	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:71795377G>A	ENST00000258104.3	+	26	2996	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	DYSF_ENST00000413539.2_Missense_Mutation_p.V938I|DYSF_ENST00000409762.1_Missense_Mutation_p.V924I|DYSF_ENST00000409366.1_Missense_Mutation_p.V908I|DYSF_ENST00000409744.1_Missense_Mutation_p.V894I|DYSF_ENST00000394120.2_Missense_Mutation_p.V908I|DYSF_ENST00000409582.3_Missense_Mutation_p.V924I|DYSF_ENST00000409651.1_Missense_Mutation_p.V939I|DYSF_ENST00000410020.3_Missense_Mutation_p.V925I|DYSF_ENST00000429174.2_Missense_Mutation_p.V907I|DYSF_ENST00000410041.1_Missense_Mutation_p.V925I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	907						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						GTTTTCTGACGTCACGGGCAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	202	200			NA	NA	2		NA											NA				71795377		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.2719G>A	2.37:g.71795377G>A	ENSP00000258104:p.Val907Ile	NA	B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	9.616	1.132447	0.21041	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.67;-1.68;-1.68;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.68	4.94	4.06	0.47325	Ferlin/Peroxisome membrane (1);	0.213952	0.40385	N	0.001118	T	0.73040	0.3536	L	0.28344	0.845	0.39564	D	0.969175	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20261	0.039;0.039;0.039;0.011;0.043;0.005;0.012;0.012;0.011;0.003;0.002;0.011;0.011;0.007	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.03;0.03;0.018;0.018;0.03;0.018;0.03;0.044;0.018;0.005;0.007;0.018;0.018;0.008	T	0.69228	-0.5200	10	0.46703	T	0.11	-30.2846	11.1273	0.48325	0.091:0.0:0.909:0.0	.	939;925;908;894;925;894;924;893;938;924;907;893;908;907	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	I	938;924;924;907;907;939;908;894;908;925;925	ENSP00000407046:V938I;ENSP00000387137:V924I;ENSP00000386547:V924I;ENSP00000398305:V907I;ENSP00000258104:V907I;ENSP00000386683:V939I;ENSP00000377678:V908I;ENSP00000386285:V894I;ENSP00000386512:V908I;ENSP00000386881:V925I;ENSP00000386617:V925I	ENSP00000258104:V907I	V	+	1	0	DYSF	71648885	0.896000	0.30565	0.593000	0.28771	0.251000	0.25915	1.328000	0.33758	1.080000	0.41073	0.448000	0.29417	GTC	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251970.3		+	ENST00000258104.3	Missense_Mutation	SNP	2 : 71795377 - 71795377 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	1982	298
ELTD1	64123	broad.mit.edu	37	1	79392719	79392719	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:79392719G>T	ENST00000370742.3	-	8	998	c.935C>A	c.(934-936)tCt>tAt	p.S312Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	312					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAGTTGTCAGATGATGAAAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	1		NA											NA				79392719		1811	4079	5890	SO:0001583	missense			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618	64123	64123		-, GPCR / Class B : Orphans	20822	protein-coding gene	gene with protein product					NA	11050079	Standard	NM_022159	NM_022159	NA	Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.935C>A	1.37:g.79392719G>T	ENSP00000359778:p.Ser312Tyr	NA	B1AR71|Q5KU34	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.677924	0.47886	.	.	ENSG00000162618	ENST00000370742	T	0.10668	2.85	6.02	5.08	0.68730	Domain of unknown function DUF3497 (1);	0.387514	0.33075	N	0.005305	T	0.13157	0.0319	L	0.47716	1.5	0.35306	D	0.783468	D	0.60160	0.987	D	0.65323	0.934	T	0.03981	-1.0987	9	.	.	.	.	11.9663	0.53038	0.0:0.1317:0.7313:0.137	.	312	Q9HBW9	ELTD1_HUMAN	Y	312	ENSP00000359778:S312Y	.	S	-	2	0	ELTD1	79165307	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	2.927000	0.48900	1.495000	0.48549	0.544000	0.68410	TCT	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026859.1		-	ENST00000370742.3	Missense_Mutation	SNP	1 : 79392719 - 79392719 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	401	51
FLNC	2318	broad.mit.edu	37	7	128477594	128477594	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:128477594A>G	ENST00000325888.8	+	4	1103	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	FLNC_ENST00000346177.6_Missense_Mutation_p.Y281C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	281					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCATCGCCTATGGGCCTGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	101	98			NA	NA	7		NA											NA				128477594		2125	4258	6383	SO:0001583	missense			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	2318	2318			3756	protein-coding gene	gene with protein product	actin binding protein 280	102565	filamin C, gamma (actin binding protein 280)	FLN2	NA	7689010, 8088838	Standard		NM_001458	NA	Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.842A>G	7.37:g.128477594A>G	ENSP00000327145:p.Tyr281Cys	NA	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837735	0.71373	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85013	-1.93;-1.93	5.39	5.39	0.77823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	H	0.94542	3.55	0.49687	D	0.999814	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.95461	0.8543	10	0.87932	D	0	.	13.3795	0.60759	1.0:0.0:0.0:0.0	.	281;281	Q14315-2;Q14315	.;FLNC_HUMAN	C	281	ENSP00000327145:Y281C;ENSP00000344002:Y281C	ENSP00000327145:Y281C	Y	+	2	0	FLNC	128264830	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.922000	0.70036	2.043000	0.60533	0.533000	0.62120	TAT	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059948.3		+	ENST00000325888.8	Missense_Mutation	SNP	7 : 128477594 - 128477594 G PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	396	154
GDF6	392255	broad.mit.edu	37	8	97156945	97156945	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:97156945G>A	ENST00000287020.5	-	2	1313	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	405					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTTCATCAGCGTCTGGATGAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	102	104			NA	NA	8		NA											NA				97156945		2203	4300	6503	SO:0001583	missense				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466	392255	392255			4221	protein-coding gene	gene with protein product		601147	segmentation syndrome 1	SGM1	NA	10022976, 18425797	Standard	NM_001001557	NM_001001557	NA	Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1214C>T	8.37:g.97156945G>A	ENSP00000287020:p.Thr405Met	NA	Q6PI58	37	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526943	0.85706	.	.	ENSG00000156466	ENST00000287020	D	0.89617	-2.54	4.95	4.95	0.65309	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95756	0.8796	10	0.87932	D	0	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	405	Q6KF10	GDF6_HUMAN	M	405	ENSP00000287020:T405M	ENSP00000287020:T405M	T	-	2	0	GDF6	97226121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.595000	0.98260	2.567000	0.86603	0.650000	0.86243	ACG	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379862.2		-	ENST00000287020.5	Missense_Mutation	SNP	8 : 97156945 - 97156945 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	249	38
GOLPH3	64083	broad.mit.edu	37	5	32126388	32126388	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:32126388G>A	ENST00000265070.6	-	4	1142	c.827C>T	c.(826-828)cCt>cTt	p.P276L		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	276					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTCCACTTCAGGGTCTAAGTC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	85	89			NA	NA	5		NA											NA				32126388		2203	4300	6503	SO:0001583	missense			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384	64083	64083			15452	protein-coding gene	gene with protein product	golgi peripheral membrane protein 1, 34 kDa, golgi protein, coat-protein, golgi-associated protein	612207			NA	11042173, 16263763	Standard	NM_022130	NM_022130	NA	Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.827C>T	5.37:g.32126388G>A	ENSP00000265070:p.Pro276Leu	NA	Q9UIW5	37	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	G	6.769	0.510717	0.12883	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	L	0.51422	1.61	0.80722	D	1	B	0.24963	0.115	B	0.31614	0.133	T	0.58803	-0.7572	9	0.11485	T	0.65	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	276	Q9H4A6	GOLP3_HUMAN	L	276;259	.	ENSP00000265070:P276L	P	-	2	0	GOLPH3	32162145	1.000000	0.71417	0.966000	0.40874	0.010000	0.07245	9.414000	0.97362	2.941000	0.99782	0.655000	0.94253	CCT	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207363.2		-	ENST00000265070.6	Missense_Mutation	SNP	5 : 32126388 - 32126388 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	643	183
GTF3A	2971	broad.mit.edu	37	13	28001293	28001293	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:28001293G>T	ENST00000381140.4	+	2	460	c.266G>T	c.(265-267)cGc>cTc	p.R89L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	89					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		CATCTGAGCCGCCACATTCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	65	68			NA	NA	13		NA											NA				28001293		1568	3582	5150	SO:0001583	missense				CCDS45019.1	13q12.3-q13.1	2013-01-08			ENSG00000122034	ENSG00000122034	2971	2971		General transcription factors, Zinc fingers, C2H2-type	4662	protein-coding gene	gene with protein product		600860			NA	7789179	Standard	NM_002097	NM_002097	NA	Approved	TFIIIA, AP2	uc001ure.2	Q92664	OTTHUMG00000016632	ENST00000381140.4:c.266G>T	13.37:g.28001293G>T	ENSP00000370532:p.Arg89Leu	NA	B7ZBK5|Q12963|Q13097	37	CCDS45019.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343156	0.82022	.	.	ENSG00000122034	ENST00000381140	D	0.96232	-3.95	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.060233	0.64402	D	0.000003	D	0.96580	0.8884	L	0.38531	1.155	0.47659	D	0.999486	D	0.89917	1.0	D	0.87578	0.998	D	0.95247	0.8356	9	0.23891	T	0.37	-30.5797	16.9456	0.86229	0.0:0.0:1.0:0.0	.	89	Q92664	TF3A_HUMAN	L	89	ENSP00000370532:R89L	ENSP00000370532:R89L	R	+	2	0	GTF3A	26899293	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	6.197000	0.72100	2.495000	0.84180	0.655000	0.94253	CGC	GTF3A-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044281.2		+	ENST00000381140.4	Missense_Mutation	SNP	13 : 28001293 - 28001293 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	122	33
HNRNPDL	9987	broad.mit.edu	37	4	83349551	83349551	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:83349551C>T	ENST00000295470.5	-	2	667	c.492G>A	c.(490-492)ctG>ctA	p.L164L	HNRNPDL_ENST00000602300.1_Silent_p.L45L|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000349655.4_Silent_p.L45L|HNRNPDL_ENST00000502762.1_Silent_p.L164L	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like	NA											NA						AGTACTCTGTCAGATCTTTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	105	104			NA	NA	4		NA											NA				83349551		2203	4300	6503	SO:0001819	synonymous_variant			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795	9987	9987		RNA binding motif (RRM) containing	5037	protein-coding gene	gene with protein product		607137		HNRPDL	NA	10072754, 9524220	Standard	NM_005463	NM_001207000	NA	Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.492G>A	4.37:g.83349551C>T		NA		37	CCDS3593.1																																																																																			HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252644.1		-	ENST00000295470.5	Silent	SNP	4 : 83349551 - 83349551 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	453	8
IFNA7	3444	broad.mit.edu	37	9	21201945	21201945	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:21201945T>C	ENST00000239347.3	-	1	259	c.220A>G	c.(220-222)Act>Gct	p.T74A		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGGCTTGAGTCTTCTGGAAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	123	125			NA	NA	9		NA											NA				21201945		2203	4300	6503	SO:0001583	missense				CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042	3444	3444		Interferons	5428	protein-coding gene	gene with protein product		147567			NA	1385305	Standard	NM_021057	NM_021057	NA	Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.220A>G	9.37:g.21201945T>C	ENSP00000239347:p.Thr74Ala	NA	Q14607|Q5VV14	37	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	t	0.013	-1.633845	0.00806	.	.	ENSG00000214042	ENST00000239347	T	0.02579	4.24	3.56	-2.05	0.07321	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.403303	0.25313	N	0.031561	T	0.00724	0.0024	N	0.00483	-1.445	0.09310	N	1	B	0.09022	0.002	B	0.20384	0.029	T	0.41592	-0.9500	10	0.02654	T	1	.	8.063	0.30644	0.0:0.519:0.0:0.481	.	74	P01567	IFNA7_HUMAN	A	74	ENSP00000239347:T74A	ENSP00000239347:T74A	T	-	1	0	IFNA7	21191945	0.000000	0.05858	0.017000	0.16124	0.051000	0.14879	-0.918000	0.04021	-0.858000	0.04110	-1.451000	0.01035	ACT	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051891.1		-	ENST00000239347.3	Missense_Mutation	SNP	9 : 21201945 - 21201945 C PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	389	9
KCNA6	3742	broad.mit.edu	37	12	4920010	4920010	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:4920010C>T	ENST00000280684.3	+	1	1669	c.803C>T	c.(802-804)aCg>aTg	p.T268M	KCNA6_ENST00000433855.1_Missense_Mutation_p.T268M			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTGGTGGAGACGCTGTGCATT	0.562		NA								HNSCC(72;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	88	88			NA	NA	12		NA											NA				4920010		2203	4300	6503	SO:0001583	missense			X17622	CCDS8534.1	12p13	2014-06-12					3742	3742		Potassium channels, Voltage-gated ion channels / Potassium channels	6225	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 96	176257			NA	16382104	Standard	NM_002235	NM_002235	NA	Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.803C>T	12.37:g.4920010C>T	ENSP00000280684:p.Thr268Met	NA		37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.738897	0.69304	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98400	-4.91;-4.91	5.28	4.4	0.53042	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.83774	2.66	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.99694	1.1002	10	0.87932	D	0	.	13.1852	0.59677	0.0:0.924:0.0:0.076	.	268	P17658	KCNA6_HUMAN	M	268	ENSP00000408321:T268M;ENSP00000280684:T268M	ENSP00000280684:T268M	T	+	2	0	KCNA6	4790271	1.000000	0.71417	0.925000	0.36789	0.984000	0.73092	7.592000	0.82676	1.469000	0.48083	0.655000	0.94253	ACG	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398909.1		+	ENST00000280684.3	Missense_Mutation	SNP	12 : 4920010 - 4920010 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	563	17
KCNT2	343450	broad.mit.edu	37	1	196227479	196227479	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:196227479C>T	ENST00000367433.5	-	25	3085	c.2984G>A	c.(2983-2985)cGa>cAa	p.R995Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000609185.1_Missense_Mutation_p.R952Q|KCNT2_ENST00000294725.9_Missense_Mutation_p.R1019Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R1019Q(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCAGTCTTCGGGCCCACTG	0.512		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)											147	127	134			NA	NA	1		NA											NA				196227479		2203	4300	6503	SO:0001583	missense			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687	343450	343450		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18866	protein-coding gene	gene with protein product	sodium and chloride activated ATP sensitive potassium channel	610044			NA	16382103	Standard	NM_198503	NM_198503	NA	Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000367433.5:c.2984G>A	1.37:g.196227479C>T	ENSP00000356403:p.Arg995Gln	NA	Q3SY59|Q5VTN1|Q6ZMT3	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.444207	0.83993	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.23950	1.88;1.93;2.23	5.74	4.83	0.62350	.	0.000000	0.49305	D	0.000152	T	0.49847	0.1581	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.76494	0.999;0.99;0.967;0.983	D;P;P;P	0.65443	0.935;0.674;0.556;0.474	T	0.51803	-0.8659	10	0.41790	T	0.15	-7.0387	14.7148	0.69259	0.0:0.9307:0.0:0.0693	.	984;995;952;1019	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	Q	995;953;1019	ENSP00000356403:R995Q;ENSP00000356401:R953Q;ENSP00000294725:R1019Q	ENSP00000294725:R1019Q	R	-	2	0	KCNT2	194494102	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.487000	0.81328	1.437000	0.47472	-0.148000	0.13756	CGA	KCNT2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000086419.1		-	ENST00000367433.5	Missense_Mutation	SNP	1 : 196227479 - 196227479 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	460	130
KLK1	3816	broad.mit.edu	37	19	51322554	51322554	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322554A>T	ENST00000301420.2	-	5	720	c.685T>A	c.(685-687)Tca>Aca	p.S229T	KLK1_ENST00000448701.2_Missense_Mutation_p.S127T	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	229	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGCCCCATGATGTGACACCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	93	98			NA	NA	19		NA											NA				51322554		2203	4300	6503	SO:0001583	missense			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3816	3816	3.4.21.35	Kallikreins	6357	protein-coding gene	gene with protein product		147910	kallikrein 1, renal/pancreas/salivary		NA	1684954, 16800724, 16800723	Standard	NM_002257	NM_002257	NA	Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.685T>A	19.37:g.51322554A>T	ENSP00000301420:p.Ser229Thr	NA	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	37	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	a	17.35	3.367908	0.61513	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.92495	-3.05;-3.05	3.66	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95661	0.8589	M	0.90977	3.165	0.23809	N	0.996785	P	0.52577	0.954	D	0.64321	0.924	D	0.88183	0.2872	9	0.87932	D	0	.	5.7404	0.18089	0.8762:0.0:0.1238:0.0	.	229	P06870	KLK1_HUMAN	T	229;127	ENSP00000301420:S229T;ENSP00000400994:S127T	ENSP00000301420:S229T	S	-	1	0	KLK1	56014366	1.000000	0.71417	0.011000	0.14972	0.014000	0.08584	5.317000	0.65822	0.764000	0.33197	0.459000	0.35465	TCA	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464135.2		-	ENST00000301420.2	Missense_Mutation	SNP	19 : 51322554 - 51322554 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	447	186
KLK1	3816	broad.mit.edu	37	19	51322555	51322555	+	Silent	SNP	T	T	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322555T>G	ENST00000301420.2	-	5	719	c.684A>C	c.(682-684)acA>acC	p.T228T	KLK1_ENST00000448701.2_Silent_p.T126T	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	228	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCCCATGATGTGACACCTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	93	99			NA	NA	19		NA											NA				51322555		2203	4300	6503	SO:0001819	synonymous_variant			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3816	3816	3.4.21.35	Kallikreins	6357	protein-coding gene	gene with protein product		147910	kallikrein 1, renal/pancreas/salivary		NA	1684954, 16800724, 16800723	Standard	NM_002257	NM_002257	NA	Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.684A>C	19.37:g.51322555T>G		NA	Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	37	CCDS12804.1																																																																																			KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464135.2		-	ENST00000301420.2	Silent	SNP	19 : 51322555 - 51322555 G PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	448	185
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	rs17851045		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:25380275T>A	ENST00000311936.3	-	3	374	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)											109	98	102			NA	NA	12		NA											NA				25380275		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.183A>T	12.37:g.25380275T>A	ENSP00000308495:p.Gln61His	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243092	0.79912	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	rs17851045	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380275 - 25380275 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	517	206
KRTAP6-1	337966	broad.mit.edu	37	21	31986063	31986063	+	Missense_Mutation	SNP	C	C	T	rs28567421	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:31986063C>T	ENST00000329122.2	-	1	186	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	54						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						ACAGAGGGAGCGGGAGCCATA	0.587		NA											C	3	0.0014	0.01	NA	2184	NA	0.9997	,	,	NA	7e-04	NA	NA	NA	0.0013	0.9051	EXOME	NA	NA	5e-04	SNP								NA				0								C	HIS/ARG	15,4391	22.3+/-47.3	0,15,2188	110	115	113		161	0.8	0	21	dbSNP_125	113	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KRTAP6-1	NM_181602.1	29	0,19,6484	TT,TC,CC	NA	0.0465,0.3404,0.1461	benign	54/72	31986063	19,12987	2203	4300	6503	SO:0001583	missense			AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724	337966	337966		Keratin associated proteins	18931	protein-coding gene	gene with protein product					NA	12359730	Standard	NM_181602	NM_181602	NA	Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.161G>A	21.37:g.31986063C>T	ENSP00000332690:p.Arg54His	NA		37	CCDS13602.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	4.286	0.052327	0.08291	0.003404	4.65E-4	ENSG00000184724	ENST00000329122	T	0.20069	2.1	4.88	0.801	0.18679	.	0.870871	0.09244	U	0.828807	T	0.09158	0.0226	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.36040	-0.9764	9	0.87932	D	0	.	1.1175	0.01718	0.1567:0.4229:0.1522:0.2683	rs28567421	54	Q3LI64	KRA61_HUMAN	H	54	ENSP00000332690:R54H	ENSP00000332690:R54H	R	-	2	0	KRTAP6-1	30907934	0.001000	0.12720	0.001000	0.08648	0.118000	0.20060	-0.881000	0.04179	0.043000	0.15746	0.643000	0.83706	CGC	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128240.2		-	ENST00000329122.2	Missense_Mutation	SNP	21 : 31986063 - 31986063 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	473	130
LPA	4018	broad.mit.edu	37	6	161032642	161032642	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:161032642G>C	ENST00000316300.5	-	16	2599	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C	LPA_ENST00000447678.1_Missense_Mutation_p.S852C			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3360	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTGTCATAGATGACCAAGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	215	210			NA	NA	6		NA											NA				161032642		1235	2560	3795	SO:0001583	missense			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670	4018	4018			6667	protein-coding gene	gene with protein product		152200		LP	NA	3670400	Standard	NM_005577	NM_005577	NA	Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2555C>G	6.37:g.161032642G>C	ENSP00000321334:p.Ser852Cys	NA	Q5VTD7|Q9UD88	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.02	1.236595	0.22711	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67698	-0.28;-0.28	2.17	2.17	0.27698	Kringle (4);Kringle-like fold (1);	.	.	.	.	D	0.83589	0.5287	H	0.99238	4.48	0.20074	N	0.999939	D	0.61697	0.99	D	0.81914	0.995	T	0.72228	-0.4354	9	0.66056	D	0.02	.	7.8282	0.29328	0.0:0.0:1.0:0.0	.	3360	P08519	APOA_HUMAN	C	852	ENSP00000321334:S852C;ENSP00000395608:S852C	ENSP00000321334:S852C	S	-	2	0	LPA	160952632	0.944000	0.32072	0.268000	0.24571	0.268000	0.26511	4.700000	0.61803	1.217000	0.43442	0.194000	0.17425	TCT	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042957.1		-	ENST00000316300.5	Missense_Mutation	SNP	6 : 161032642 - 161032642 C PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	1301	21
LRBA	987	broad.mit.edu	37	4	151791686	151791686	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:151791686G>C	ENST00000510413.1	-	20	2724	c.2440C>G	c.(2440-2442)Caa>Gaa	p.Q814E	LRBA_ENST00000507224.1_Missense_Mutation_p.Q814E|LRBA_ENST00000357115.3_Missense_Mutation_p.Q814E|LRBA_ENST00000535741.1_Missense_Mutation_p.Q814E	NM_001199282.2	NP_001186211.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	814						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CGAGGGTTTTGTATCTTCACT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	4		NA											NA				151791686		2203	4294	6497	SO:0001583	missense			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589	987	987		WD repeat domain containing	1742	protein-coding gene	gene with protein product		606453		CDC4L	NA	1505956, 11254716	Standard		NM_006726	NA	Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000510413.1:c.2440C>G	4.37:g.151791686G>C	ENSP00000421552:p.Gln814Glu	NA	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	37	CCDS58928.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375857	0.24857	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.66	5.66	0.87406	Armadillo-type fold (1);	0.413735	0.23682	N	0.045609	T	0.63200	0.2491	L	0.31157	0.91	0.52099	D	0.99994	D;P	0.56968	0.978;0.571	P;B	0.58130	0.833;0.288	T	0.55218	-0.8175	10	0.02654	T	1	.	19.757	0.96298	0.0:0.0:1.0:0.0	.	814;814	P50851;P50851-2	LRBA_HUMAN;.	E	814	ENSP00000446299:Q814E;ENSP00000421552:Q814E;ENSP00000349629:Q814E;ENSP00000422180:Q814E	ENSP00000349629:Q814E	Q	-	1	0	LRBA	152011136	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.464000	0.66719	2.678000	0.91216	0.460000	0.39030	CAA	LRBA-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364938.1		-	ENST00000510413.1	Missense_Mutation	SNP	4 : 151791686 - 151791686 C PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	373	138
MAEA	10296	broad.mit.edu	37	4	1283769	1283769	+	Splice_Site	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:1283769A>G	ENST00000505177.2	+	1	95	c.68A>G	c.(67-69)aAg>aGg	p.K23R	MAEA_ENST00000303400.4_Splice_Site_p.K23R|MAEA_ENST00000264750.6_Splice_Site_p.K23R|MAEA_ENST00000514708.1_Splice_Site_p.K23R|MAEA_ENST00000452175.2_Splice_Site_p.K12R			Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	23	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCGACCCTCAAGGTGGGCGCC	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	19	20			NA	NA	4		NA											NA				1283769		2190	4294	6484	SO:0001630	splice_region_variant			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316	10296	10296			13731	protein-coding gene	gene with protein product	GID complex subunit 9, FYV10 homolog (S. cerevisiae)	606801			NA	9763581	Standard	NM_005882	XM_005272243	NA	Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000505177.2:c.69+1A>G	4.37:g.1283769A>G		NA	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	37		.	.	.	.	.	.	.	.	.	.	A	16.40	3.113236	0.56398	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708	T;T;T;T;T;T;T	0.47869	1.11;1.04;0.97;1.11;0.9;0.83;1.05	3.36	3.36	0.38483	.	0.130255	0.49305	D	0.000158	T	0.34279	0.0892	L	0.35542	1.07	0.33919	D	0.640589	B;B;B;P;B	0.39376	0.136;0.286;0.131;0.67;0.024	B;B;B;B;B	0.39119	0.126;0.203;0.084;0.291;0.016	T	0.42899	-0.9424	10	0.14252	T	0.57	.	11.9497	0.52948	1.0:0.0:0.0:0.0	.	23;23;23;23;23	E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;MAEA_HUMAN	R	23;23;23;23;23;23;23;12;23	ENSP00000302830:K23R;ENSP00000422215:K23R;ENSP00000421644:K23R;ENSP00000264750:K23R;ENSP00000426903:K23R;ENSP00000411415:K12R;ENSP00000427512:K23R	ENSP00000264750:K23R	K	+	2	0	MAEA	1273769	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	6.007000	0.70731	1.406000	0.46857	0.528000	0.53228	AAG	MAEA-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000359512.2	Missense_Mutation	+	ENST00000505177.2	Splice_Site	SNP	4 : 1283769 - 1283769 G PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	41	6
MGRN1	23295	broad.mit.edu	37	16	4702743	4702743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:4702743G>T	ENST00000399577.5	+	4	454	c.361G>T	c.(361-363)Gag>Tag	p.E121*	MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E121*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E121*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	121					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTACAGCCTGGAGTTCACCTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	44	41			NA	NA	16		NA											NA				4702743		2066	4194	6260	SO:0001587	stop_gained			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23				NA	23295		RING-type (C3HC4) zinc fingers	20254	protein-coding gene	gene with protein product		607559	mahogunin, ring finger 1		NA	9628581	Standard		NM_015246	NA	Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.361G>T	16.37:g.4702743G>T	ENSP00000382487:p.Glu121*	NA	A4URL3|A4URL4|Q86W76	37	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645878	0.87958	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-33.4513	17.7579	0.88455	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000262370:E121X	E	+	1	0	MGRN1	4642744	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	9.813000	0.99286	2.537000	0.85549	0.561000	0.74099	GAG	MGRN1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432060.2		+	ENST00000399577.5	Nonsense_Mutation	SNP	16 : 4702743 - 4702743 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	117	36
MROH7-TTC4	100527960	broad.mit.edu	37	1	55138848	55138848	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:55138848A>T	ENST00000414150.2	+	8	1962	c.1684A>T	c.(1684-1686)Agc>Tgc	p.S562C	MROH7_ENST00000454855.2_Missense_Mutation_p.S80C|MROH7_ENST00000409996.1_Missense_Mutation_p.S130C|MROH7_ENST00000421030.2_Missense_Mutation_p.S562C|MROH7_ENST00000545244.1_Missense_Mutation_p.S130C|MROH7_ENST00000339553.5_Missense_Mutation_p.S562C|MROH7_ENST00000395690.2_Missense_Mutation_p.S562C					MROH7-TTC4 readthrough (NMD candidate)	NA											NA						TGGGCTGAAGAGCATCTTgga	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	30	30			NA	NA	1		NA											NA				55138848		1963	4144	6107	SO:0001583	missense					1p32.3	2013-09-25			ENSG00000271723	ENSG00000271723	100527960	100527960			49180	other	readthrough					NA		Standard		NR_037641	NA	Approved				OTTHUMG00000185328	ENST00000414150.2:c.1684A>T	1.37:g.55138848A>T	ENSP00000410192:p.Ser562Cys	NA		37		.	.	.	.	.	.	.	.	.	.	A	18.02	3.531101	0.64972	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28	4.0	4.0	0.46444	.	0.100494	0.43747	D	0.000529	T	0.15782	0.0380	L	0.48362	1.52	0.31048	N	0.715548	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.78314	0.991;0.989;0.963	T	0.01259	-1.1403	10	0.52906	T	0.07	-14.8807	9.2791	0.37718	1.0:0.0:0.0:0.0	.	562;562;130	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	C	562;130;587;562;130;80;562	ENSP00000396622:S562C;ENSP00000442333:S130C;ENSP00000343211:S562C;ENSP00000387048:S130C;ENSP00000401130:S80C;ENSP00000379044:S562C	ENSP00000343211:S562C	S	+	1	0	HEATR8	54911436	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.642000	0.54367	1.687000	0.51057	0.529000	0.55759	AGC	MROH7-TTC4-004	KNOWN	basic|appris_candidate_longest|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000470197.1		+	ENST00000414150.2	Missense_Mutation	SNP	1 : 55138848 - 55138848 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	123	10
NCOR1	9611	broad.mit.edu	37	17	16089977	16089977	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:16089977A>G	ENST00000268712.3	-	3	390	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	NCOR1_ENST00000395851.1_Missense_Mutation_p.S45P|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	45	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGAGAGGAACGATAATCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	81	83			NA	NA	17		NA											NA				16089977		2203	4300	6503	SO:0001583	missense			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027	9611	9611			7672	protein-coding gene	gene with protein product	thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109	600849	nuclear receptor co-repressor 1		NA	7566114, 9724795	Standard	NM_006311	NM_006311	NA	Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.133T>C	17.37:g.16089977A>G	ENSP00000268712:p.Ser45Pro	NA	B3DLF8|Q9UPV5|Q9UQ18	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703488	0.30232	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.47528	0.84;1.43	5.78	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	L	0.46157	1.445	0.80722	D	1	B;P;P;P;D;D	0.69078	0.396;0.94;0.528;0.94;0.995;0.997	B;B;B;B;P;D	0.63793	0.135;0.441;0.244;0.441;0.829;0.918	T	0.56080	-0.8038	10	0.48119	T	0.1	-1.5681	11.1278	0.48328	0.928:0.0:0.072:0.0	.	45;45;45;45;45;45	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	P	45	ENSP00000268712:S45P;ENSP00000379192:S45P	ENSP00000268712:S45P	S	-	1	0	NCOR1	16030702	1.000000	0.71417	0.969000	0.41365	0.777000	0.43975	4.544000	0.60691	1.006000	0.39211	0.460000	0.39030	TCC	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131751.5		-	ENST00000268712.3	Missense_Mutation	SNP	17 : 16089977 - 16089977 G PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	331	43
NEFH	4744	broad.mit.edu	37	22	29886317	29886317	+	Silent	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:29886317G>A	ENST00000310624.6	+	4	2721	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	902	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGGAAGAGGCTGAAGATA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	22		NA											NA				29886317		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285	4744	4744		Intermediate filaments type IV	7737	protein-coding gene	gene with protein product		162230	neurofilament, heavy polypeptide 200kDa		NA		Standard	NM_021076	NM_021076	NA	Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2688G>A	22.37:g.29886317G>A		NA	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	37	CCDS13858.1																																																																																			NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321553.2		+	ENST00000310624.6	Silent	SNP	22 : 29886317 - 29886317 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	161	47
NLGN3	54413	broad.mit.edu	37	X	70389792	70389792	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:70389792C>T	ENST00000374051.3	+	7	2654	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	NLGN3_ENST00000536169.1_Missense_Mutation_p.R758C|NLGN3_ENST00000358741.3_Missense_Mutation_p.R798C|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	798					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.R778C(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GACCCTGCGGCGCTCCCCGGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(103;760 1488 16849 22250 40351)							NA				1	Substitution - Missense(1)	ovary(1)											102	70	81			NA	NA	X		NA											NA				70389792		2202	4297	6499	SO:0001583	missense			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338	54413	54413			14289	protein-coding gene	gene with protein product		300336			NA	10767552, 10819331	Standard	NM_018977	NM_181303	NA	Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000374051.3:c.2332C>T	X.37:g.70389792C>T	ENSP00000363163:p.Arg778Cys	NA	D3DVV0|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	37	CCDS14407.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346340	0.61073	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.73258	-0.7;-0.73;-0.73	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76071	0.97;0.97;0.987	D	0.85078	0.0944	10	0.87932	D	0	.	12.5627	0.56291	0.1658:0.8342:0.0:0.0	.	758;798;778	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	C	758;778;798	ENSP00000445298:R758C;ENSP00000363163:R778C;ENSP00000351591:R798C	ENSP00000351591:R798C	R	+	1	0	NLGN3	70306517	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.794000	0.55492	2.310000	0.77875	0.525000	0.51046	CGC	NLGN3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057120.1		+	ENST00000374051.3	Missense_Mutation	SNP	X : 70389792 - 70389792 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	45	18
NLRP4	147945	broad.mit.edu	37	19	56369355	56369355	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:56369355C>T	ENST00000301295.6	+	3	1018	c.596C>T	c.(595-597)aCg>aTg	p.T199M	NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M|NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	199	NACHT.						ATP binding	p.T199M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGCCGCCAACGAGTTTGGCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	101	101	101		596	-0.4	0	19		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP4	NM_134444.4	81	0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231	benign	199/995	56369355	3,13003	2203	4300	6503	SO:0001583	missense			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08			147945	147945		Nucleotide-binding domain and leucine rich repeat containing	22943	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4, cancer/testis antigen 58	609645	NACHT, leucine rich repeat and PYD containing 4	NALP4	NA	12563287, 12019269	Standard	NM_134444	NM_134444	NA	Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.596C>T	19.37:g.56369355C>T	ENSP00000301295:p.Thr199Met	NA	Q86W87|Q96AY6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	8.234	0.805414	0.16467	4.54E-4	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	4.11	-0.4	0.12411	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.60586	0.2280	L	0.33485	1.01	0.09310	N	1	B;B;B	0.32128	0.063;0.051;0.357	B;B;B	0.24394	0.025;0.024;0.053	T	0.45249	-0.9274	9	0.33940	T	0.23	.	6.757	0.23520	0.0:0.4886:0.0:0.5114	.	199;124;199	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	199	ENSP00000301295:T199M;ENSP00000344787:T199M	ENSP00000301295:T199M	T	+	2	0	NLRP4	61061167	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.970000	0.03810	0.152000	0.19188	-1.020000	0.02445	ACG	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457367.2		+	ENST00000301295.6	Missense_Mutation	SNP	19 : 56369355 - 56369355 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	1058	221
OR4D5	219875	broad.mit.edu	37	11	123810383	123810383	+	Silent	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:123810383T>C	ENST00000307033.2	+	1	134	c.60T>C	c.(58-60)gtT>gtC	p.V20V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTCTCAGGTTTGGGAGCTTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	88	89			NA	NA	11		NA											NA				123810383		2202	4299	6501	SO:0001819	synonymous_variant			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014	219875	219875		GPCR / Class A : Olfactory receptors	14852	protein-coding gene	gene with protein product					NA		Standard	NM_001001965	NM_001001965	NA	Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.60T>C	11.37:g.123810383T>C		NA	B9EGZ4|Q6IFE6	37	CCDS31699.1																																																																																			OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387263.1		+	ENST00000307033.2	Silent	SNP	11 : 123810383 - 123810383 C PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	566	46
PCDH9	5101	broad.mit.edu	37	13	67802228	67802228	+	Silent	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802228C>A	ENST00000456367.1	-	2	1031	c.345G>T	c.(343-345)gtG>gtT	p.V115V	PCDH9_ENST00000377861.3_Silent_p.V115V|PCDH9_ENST00000328454.5_Silent_p.V115V|PCDH9_ENST00000377865.2_Silent_p.V115V|PCDH9_ENST00000544246.1_Silent_p.V115V	NM_020403.4	NP_065136.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	115	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGGATCACCACCTCAAGTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	82			NA	NA	13		NA											NA				67802228		2203	4300	6503	SO:0001819	synonymous_variant			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226	5101	5101		Cadherins / Protocadherins : Non-clustered	8661	protein-coding gene	gene with protein product		603581			NA	9787079	Standard	NM_203487	NM_020403	NA	Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000456367.1:c.345G>T	13.37:g.67802228C>A		NA	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	37	CCDS9443.1																																																																																			PCDH9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045214.2		-	ENST00000456367.1	Silent	SNP	13 : 67802228 - 67802228 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	548	52
PCDH9	5101	broad.mit.edu	37	13	67802227	67802227	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802227C>A	ENST00000456367.1	-	2	1032	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	PCDH9_ENST00000377861.3_Missense_Mutation_p.V116L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V116L|PCDH9_ENST00000377865.2_Missense_Mutation_p.V116L|PCDH9_ENST00000544246.1_Missense_Mutation_p.V116L	NM_020403.4	NP_065136.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	116	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGGAGGATCACCACCTCAAGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	82	82			NA	NA	13		NA											NA				67802227		2203	4300	6503	SO:0001583	missense			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226	5101	5101		Cadherins / Protocadherins : Non-clustered	8661	protein-coding gene	gene with protein product		603581			NA	9787079	Standard	NM_203487	NM_020403	NA	Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000456367.1:c.346G>T	13.37:g.67802227C>A	ENSP00000401699:p.Val116Leu	NA	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	37	CCDS9443.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257728	0.39896	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.94	5.94	0.96194	Cadherin, N-terminal (1);Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.28504	0.86	0.80722	D	1	B;P;P;P	0.46784	0.043;0.596;0.859;0.884	B;B;P;P	0.49922	0.048;0.324;0.492;0.626	T	0.00472	-1.1719	10	0.28530	T	0.3	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	116;116;116;116	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	L	116	ENSP00000442186:V116L;ENSP00000367096:V116L;ENSP00000401699:V116L;ENSP00000332060:V116L;ENSP00000367092:V116L	ENSP00000332060:V116L	V	-	1	0	PCDH9	66700228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.816000	0.96949	0.561000	0.74099	GTG	PCDH9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045214.2		-	ENST00000456367.1	Missense_Mutation	SNP	13 : 67802227 - 67802227 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	669	54
PLA1A	51365	broad.mit.edu	37	3	119327676	119327676	+	Missense_Mutation	SNP	C	C	T	rs145457987	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:119327676C>T	ENST00000488919.1	+	0	172				PLA1A_ENST00000495992.1_Missense_Mutation_p.T112M|PLA1A_ENST00000273371.4_Missense_Mutation_p.T112M|PLA1A_ENST00000494440.1_Missense_Mutation_p.T96M	NM_001206961.1	NP_001193890.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	NA					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCGTGCAACGAATGCTAAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,,MET/THR	6,4400	11.4+/-27.6	0,6,2197	178	177	177		335,,335	2.2	0	3	dbSNP_134	177	0,8600		0,0,4300	no	missense,utr-5,missense	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	81,,81	0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461	possibly-damaging,,possibly-damaging	112/441,,112/457	119327676	6,13000	2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837	51365	51365			17661	protein-coding gene	gene with protein product		607460			NA	10196188	Standard		NM_015900	NA	Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000488919.1:c.-185C>T	3.37:g.119327676C>T		NA	B2R8V2|O95991|Q86WX6|Q9UPD2	37	CCDS56269.1	.	.	.	.	.	.	.	.	.	.	C	3.694	-0.062843	0.07273	0.001362	0.0	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.90955	-2.68;-2.76;-2.68	5.17	2.19	0.27852	Lipase, N-terminal (1);	0.669254	0.16089	N	0.230123	T	0.79299	0.4422	N	0.16266	0.395	0.09310	N	1	P;B	0.47545	0.897;0.008	B;B	0.40329	0.326;0.005	T	0.72408	-0.4303	10	0.66056	D	0.02	-0.7573	2.9704	0.05920	0.2767:0.4081:0.2293:0.0858	.	112;112	Q53H76-3;Q53H76	.;PLA1A_HUMAN	M	112;112;96	ENSP00000273371:T112M;ENSP00000417326:T112M;ENSP00000418793:T96M	ENSP00000273371:T112M	T	+	2	0	PLA1A	120810366	0.006000	0.16342	0.001000	0.08648	0.014000	0.08584	0.401000	0.20948	0.549000	0.28973	0.462000	0.41574	ACG	PLA1A-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355253.2		+	ENST00000488919.1	5'UTR	SNP	3 : 119327676 - 119327676 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	697	216
PSKH1	5681	broad.mit.edu	37	16	67961230	67961230	+	Silent	SNP	C	C	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67961230C>G	ENST00000291041.5	+	3	1130	c.960C>G	c.(958-960)ccC>ccG	p.P320P		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	320	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GTCTCTAGCCCTGGCCTAGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	93	101			NA	NA	16		NA											NA				67961230		2198	4300	6498	SO:0001819	synonymous_variant			M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792	5681	5681			9529	protein-coding gene	gene with protein product		177015			NA	8268911	Standard	NM_006742	NM_006742	NA	Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.960C>G	16.37:g.67961230C>G		NA	Q9NY19	37	CCDS10851.1																																																																																			PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268882.3		+	ENST00000291041.5	Silent	SNP	16 : 67961230 - 67961230 G PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	557	188
RAB3IP	117177	broad.mit.edu	37	12	70209146	70209146	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:70209146G>A	ENST00000550536.1	+	11	1808	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D229N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D142N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D229N|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D229N|RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D435N	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	451					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTATAGTTGATCAGATGTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	158	161			NA	NA	12		NA											NA				70209146		2203	4300	6503	SO:0001583	missense				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328	117177	117177			16508	protein-coding gene	gene with protein product	rabin3	608686			NA		Standard	NM_022456	NM_175623	NA	Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000550536.1:c.1351G>A	12.37:g.70209146G>A	ENSP00000447300:p.Asp451Asn	NA	B7WPJ6|Q6PCE4|Q96A24|Q96QE6|Q96QE7|Q96QE8|Q96QE9|Q96QF1|Q9H673	37	CCDS8993.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239138	0.79800	.	.	ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.65	5.65	0.86999	.	0.046748	0.85682	D	0.000000	T	0.54598	0.1868	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.48592	-0.9022	10	0.34782	T	0.22	.	19.7308	0.96181	0.0:0.0:1.0:0.0	.	451	Q96QF0	RAB3I_HUMAN	N	435;229;451;229;229;142	ENSP00000247833:D435N;ENSP00000323349:D229N;ENSP00000447300:D451N;ENSP00000448773:D229N;ENSP00000448027:D229N;ENSP00000448102:D142N	ENSP00000247833:D435N	D	+	1	0	RAB3IP	68495413	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.476000	0.97823	2.674000	0.91012	0.591000	0.81541	GAT	RAB3IP-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280669.2		+	ENST00000550536.1	Missense_Mutation	SNP	12 : 70209146 - 70209146 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	572	110
RLTPR	146206	broad.mit.edu	37	16	67682073	67682073	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67682073C>T	ENST00000334583.6	+	14	1518	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	397										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)		ACCGGCAGGGCGGACTGGAGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	22	21			NA	NA	16		NA											NA				67682073		2002	4127	6129	SO:0001583	missense			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.1190C>T	16.37:g.67682073C>T	ENSP00000334958:p.Ala397Val	NA		37	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	7.612	0.675061	0.14841	.	.	ENSG00000159753	ENST00000334583	T	0.13307	2.6	3.45	-2.7	0.06004	.	5.763050	0.00786	N	0.001302	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.21014	T	0.42	-19.0545	2.4679	0.04557	0.3865:0.2967:0.0:0.3169	.	397	Q6F5E8	LR16C_HUMAN	V	397	ENSP00000334958:A397V	ENSP00000334958:A397V	A	+	2	0	RLTPR	66239574	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-2.040000	0.01416	-0.255000	0.09486	0.462000	0.41574	GCG	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467858.1		+	ENST00000334583.6	Missense_Mutation	SNP	16 : 67682073 - 67682073 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	114	41
ROBO1	6091	broad.mit.edu	37	3	78734918	78734918	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:78734918C>A	ENST00000464233.1	-	10	1433	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	ROBO1_ENST00000467549.1_Missense_Mutation_p.K404N|ROBO1_ENST00000495273.1_Missense_Mutation_p.K404N|ROBO1_ENST00000436010.2_Missense_Mutation_p.K401N	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	440	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCAAATATGCCTTTGTGATGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	3		NA											NA				78734918		1885	4095	5980	SO:0001583	missense			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	6091	6091		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	10249	protein-coding gene	gene with protein product		602430	roundabout (axon guidance receptor, Drosophila) homolog 1		NA	9458045, 9608531	Standard	NM_002941	NM_002941	NA	Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1320G>T	3.37:g.78734918C>A	ENSP00000420321:p.Lys440Asn	NA	D3DU36|Q7Z300|Q9BUS7	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730545	0.48939	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.28	-2.11	0.07187	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.088124	0.85682	D	0.000000	T	0.66915	0.2838	L	0.31845	0.965	0.50313	D	0.999865	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;1.0	T	0.61525	-0.7045	9	.	.	.	.	10.4211	0.44350	0.0:0.3686:0.0:0.6314	.	404;440;404;404;401	Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	N	401;404;440;404;404;440	ENSP00000406043:K401N;ENSP00000420321:K440N;ENSP00000420637:K404N;ENSP00000417992:K404N	.	K	-	3	2	ROBO1	78817608	1.000000	0.71417	0.985000	0.45067	0.460000	0.32559	0.961000	0.29267	-0.550000	0.06183	-0.251000	0.11542	AAG	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352610.1		-	ENST00000464233.1	Missense_Mutation	SNP	3 : 78734918 - 78734918 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	101	30
SH2D3C	10044	broad.mit.edu	37	9	130507114	130507114	+	Missense_Mutation	SNP	G	G	A	rs142472912	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:130507114G>A	ENST00000314830.8	-	7	1642	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	SH2D3C_ENST00000373276.3_Missense_Mutation_p.A442V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A156V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A352V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A353V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A350V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	510					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTCTCAGTCGCTGCCCACTC	0.627		NA											G	1	5e-04	NA	NA	2184	NA	0.9996	,	,	NA	3e-04	0.0013	NA	NA	6e-04	0.8284	LOWCOV	NA	NA	3e-04	SNP								NA				0													104	113	110			NA	NA	9		NA											NA				130507114		2203	4300	6503	SO:0001583	missense			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370	10044	10044		SH2 domain containing	16884	protein-coding gene	gene with protein product		604722	SH2 domain-containing 3C		NA	10187783	Standard	NM_005489	NM_170600	NA	Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1529C>T	9.37:g.130507114G>A	ENSP00000317817:p.Ala510Val	NA	Q5HYE5|Q6UY42|Q8N6X3|Q9Y2X5	37	CCDS6877.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.21	1.288019	0.23478	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.5	2.4	0.29515	.	0.589560	0.17839	N	0.160278	T	0.27765	0.0683	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B	0.33494	0.217;0.414;0.059;0.324;0.032	B;B;B;B;B	0.22152	0.038;0.017;0.002;0.038;0.003	T	0.13388	-1.0511	10	0.45353	T	0.12	-3.8094	6.1239	0.20167	0.074:0.134:0.6533:0.1387	.	350;510;442;353;352	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	V	353;352;442;350;156;510	ENSP00000362374:A353V;ENSP00000388536:A352V;ENSP00000362373:A442V;ENSP00000362371:A350V;ENSP00000394632:A156V;ENSP00000317817:A510V	ENSP00000317817:A510V	A	-	2	0	SH2D3C	129546935	0.048000	0.20356	0.006000	0.13384	0.504000	0.33889	2.309000	0.43699	0.640000	0.30582	0.462000	0.41574	GCG	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054264.1		-	ENST00000314830.8	Missense_Mutation	SNP	9 : 130507114 - 130507114 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	1033	358
SI	6476	broad.mit.edu	37	3	164764706	164764706	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:164764706C>A	ENST00000264382.3	-	16	1872	c.1810G>T	c.(1810-1812)Gac>Tac	p.D604Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	604	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCAGTATTGTCTCCTAACCAA	0.393		NA								HNSCC(35;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	96	97			NA	NA	3		NA											NA				164764706		2203	4300	6503	SO:0001583	missense			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	6476	6476	3.2.1.10		10856	protein-coding gene	gene with protein product	Oligosaccharide alpha-1,6-glucosidase	609845	sucrase-isomaltase		NA	2962903, 1353958	Standard	NM_001041	NM_001041	NA	Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1810G>T	3.37:g.164764706C>A	ENSP00000264382:p.Asp604Tyr	NA	A2RUC3|Q1JQ80|Q1RMC2	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544210	0.86022	.	.	ENSG00000090402	ENST00000264382	D	0.97906	-4.6	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98404	1.0569	10	0.87932	D	0	.	18.0712	0.89407	0.0:1.0:0.0:0.0	.	604	P14410	SUIS_HUMAN	Y	604	ENSP00000264382:D604Y	ENSP00000264382:D604Y	D	-	1	0	SI	166247400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.356000	0.79445	2.519000	0.84933	0.467000	0.42956	GAC	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350116.1		-	ENST00000264382.3	Missense_Mutation	SNP	3 : 164764706 - 164764706 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	592	12
SPRYD3	84926	broad.mit.edu	37	12	53459657	53459657	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:53459657C>T	ENST00000547837.1	-	12	1442	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R	SPRYD3_ENST00000301463.4_Missense_Mutation_p.G430R			Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	430								p.G430W(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACTTTCTCCCCGCAGCTCAGC	0.567		NA									OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											167	145	152			NA	NA	12		NA											NA				53459657		2203	4300	6503	SO:0001583	missense			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778	84926	84926			25920	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_032840	NM_032840	NA	Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000547837.1:c.1399G>A	12.37:g.53459657C>T	ENSP00000449452:p.Gly467Arg	992	B9EG99|Q96SK5	37		.	.	.	.	.	.	.	.	.	.	C	24.4	4.526414	0.85600	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.76839	-1.05;-1.05	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);	0.063055	0.64402	D	0.000008	D	0.82912	0.5140	L	0.49778	1.585	0.58432	D	0.999999	D	0.69078	0.997	P	0.59056	0.851	T	0.83279	-0.0039	10	0.51188	T	0.08	.	16.8098	0.85716	0.0:1.0:0.0:0.0	.	430	Q8NCJ5	SPRY3_HUMAN	R	430;467	ENSP00000301463:G430R;ENSP00000449452:G467R	ENSP00000301463:G430R	G	-	1	0	SPRYD3	51745924	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	5.386000	0.66238	2.642000	0.89623	0.563000	0.77884	GGG	SPRYD3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407266.1		-	ENST00000547837.1	Missense_Mutation	SNP	12 : 53459657 - 53459657 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	634	149
TBC1D12	23232	broad.mit.edu	37	10	96269882	96269882	+	Silent	SNP	A	A	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:96269882A>G	ENST00000225235.4	+	8	1745	c.1635A>G	c.(1633-1635)gaA>gaG	p.E545E	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	545	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCAGTCTGGAATTAATTAAGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	175	180			NA	NA	10		NA											NA				96269882		1848	4101	5949	SO:0001819	synonymous_variant			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239	23232	23232			29082	protein-coding gene	gene with protein product					NA	9628581	Standard		NM_015188	NA	Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1635A>G	10.37:g.96269882A>G		NA	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	37	CCDS41553.1																																																																																			TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049482.2		+	ENST00000225235.4	Silent	SNP	10 : 96269882 - 96269882 G PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	477	79
TNRC18	84629	broad.mit.edu	37	7	5410273	5410273	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:5410273C>T	ENST00000399537.4	-	11	4300	c.3952G>A	c.(3952-3954)Ggc>Agc	p.G1318S	TNRC18_ENST00000430969.1_Missense_Mutation_p.G1318S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1318							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGTGCTGCCGAGTACAGGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	16	16			NA	NA	7		NA											NA				5410273		2022	4167	6189	SO:0001583	missense			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095	84629	84629		Trinucleotide (CAG) repeat containing	11962	protein-coding gene	gene with protein product					NA	9225980	Standard		NM_001080495	NA	Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000399537.4:c.3952G>A	7.37:g.5410273C>T	ENSP00000382452:p.Gly1318Ser	NA	A8MX41|Q96JH1|Q96K91	37		.	.	.	.	.	.	.	.	.	.	C	4.209	0.037484	0.08148	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.10668	2.85;2.85	4.9	-0.334	0.12666	.	0.390991	0.18787	N	0.131164	T	0.05686	0.0149	N	0.25144	0.715	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.33343	-0.9872	10	0.32370	T	0.25	.	4.691	0.12781	0.0:0.5034:0.1509:0.3457	.	1318	O15417	TNC18_HUMAN	S	1318;1318;373;373	ENSP00000382452:G1318S;ENSP00000395538:G1318S	ENSP00000330383:G373S	G	-	1	0	TNRC18	5376799	0.000000	0.05858	0.002000	0.10522	0.085000	0.17905	-0.185000	0.09684	0.146000	0.19002	0.313000	0.20887	GGC	TNRC18-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000324088.6		-	ENST00000399537.4	Missense_Mutation	SNP	7 : 5410273 - 5410273 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	87	32
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102	91	94			NA	NA	17		NA											NA				7578263		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.586C>T	17.37:g.7578263G>A	ENSP00000391127:p.Arg196*	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	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7578263 - 7578263 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	231	90
TRIM58	25893	broad.mit.edu	37	1	248039221	248039221	+	Silent	SNP	C	C	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:248039221C>T	ENST00000366481.3	+	6	939	c.891C>T	c.(889-891)ccC>ccT	p.P297P	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	297	B30.2/SPRY.					intracellular	zinc ion binding	p.P297P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTGGATCCCGCCACGGCGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											55	55	55			NA	NA	1		NA											NA				248039221		2203	4300	6503	SO:0001819	synonymous_variant			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722	25893	25893		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	24150	protein-coding gene	gene with protein product			tripartite motif-containing 58		NA		Standard	NM_015431	NM_015431	NA	Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.891C>T	1.37:g.248039221C>T		NA	Q6B0H9	37	CCDS1636.1																																																																																			TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096860.1		+	ENST00000366481.3	Silent	SNP	1 : 248039221 - 248039221 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	218	58
TTN	7273	broad.mit.edu	37	2	179579858	179579858	+	Silent	SNP	G	G	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:179579858G>A	ENST00000589042.1	-	90	26279	c.26055C>T	c.(26053-26055)agC>agT	p.S8685S	TTN_ENST00000342992.6_Silent_p.S7441S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S8368S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8368	Ig-like 69.						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)			ACTTCTTGCCGCTCCTAAGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													318	300	306			NA	NA	2		NA											NA				179579858		1923	4120	6043	SO:0001819	synonymous_variant			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.26055C>T	2.37:g.179579858G>A		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179579858 - 179579858 A PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	690	353
VRK3	51231	broad.mit.edu	37	19	50504080	50504080	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:50504080T>C	ENST00000599538.1	-	6	1243	c.579A>G	c.(577-579)tcA>tcG	p.S193S	VRK3_ENST00000316763.3_Silent_p.S193S|VRK3_ENST00000443401.2_Missense_Mutation_p.Q13R|VRK3_ENST00000593919.1_Silent_p.S193S|VRK3_ENST00000594948.1_Silent_p.S193S|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Silent_p.S193S|VRK3_ENST00000601912.1_Silent_p.S143S|VRK3_ENST00000377011.2_Silent_p.S143S|VRK3_ENST00000601341.1_Silent_p.S143S			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	193	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTGTGGTCCTGAGTCACAGG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)							NA				0													119	99	106			NA	NA	19		NA											NA				50504080		2203	4300	6503	SO:0001819	synonymous_variant			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053	51231	51231			18996	protein-coding gene	gene with protein product					NA		Standard	NM_016440	XM_005258971	NA	Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.579A>G	19.37:g.50504080T>C		NA	A8KA53|Q502Y2|Q9P2V8	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	T	9.531	1.110884	0.20714	.	.	ENSG00000105053	ENST00000443401	T	0.29397	1.57	3.45	-0.215	0.13157	.	.	.	.	.	T	0.10937	0.0267	.	.	.	0.09310	N	0.999994	B	0.09022	0.002	B	0.12156	0.007	T	0.35724	-0.9777	8	0.02654	T	1	-1.2996	6.4127	0.21700	0.0:0.5503:0.0:0.4497	.	13	B4DGW1	.	R	13	ENSP00000414907:Q13R	ENSP00000414907:Q13R	Q	-	2	0	VRK3	55195892	0.001000	0.12720	0.011000	0.14972	0.009000	0.06853	-0.829000	0.04415	-0.078000	0.12730	0.533000	0.62120	CAG	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464815.1		-	ENST00000599538.1	Silent	SNP	19 : 50504080 - 50504080 C PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	233	30
XDH	7498	broad.mit.edu	37	2	31625970	31625970	+	Silent	SNP	G	G	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:31625970G>T	ENST00000379416.3	-	3	189	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	47	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAGCCCCGCAGCCCCCCTCTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(66;682 1445 30109 40147)							NA				0													96	92	93			NA	NA	2		NA											NA				31625970		2203	4300	6503	SO:0001819	synonymous_variant			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	7498	7498	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	xanthene dehydrogenase		NA	8224915	Standard	NM_000379	NM_000379	NA	Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.141C>A	2.37:g.31625970G>T		NA	Q16681|Q16712|Q4PJ16	37	CCDS1775.1																																																																																			XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216840.1		-	ENST00000379416.3	Silent	SNP	2 : 31625970 - 31625970 T PAAD-TCGA-HZ-7922-Tumor-SM-2NW87	537	61
