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
ABCB1	5243	broad.mit.edu	37	7	87195527	87195527	+	Silent	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:87195527A>G	ENST00000265724.3	-	8	978	c.561T>C	c.(559-561)ggT>ggC	p.G187G	ABCB1_ENST00000543898.1_Silent_p.G123G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	187	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAATTTTGTCACCAATTCCTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	134	137			NA	NA	7		NA											NA				87195527		2203	4300	6503	SO:0001819	synonymous_variant			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563	5243	5243		CD molecules, ATP binding cassette transporters / subfamily B	40	protein-coding gene	gene with protein product	multidrug resistance protein 1	171050	colchicin sensitivity	PGY1, MDR1, CLCS	NA	3027054	Standard	NM_000927	NM_000927	NA	Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.561T>C	7.37:g.87195527A>G		NA	A8K294|Q12755|Q14812	37	CCDS5608.1																																																																																			ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335444.2		-	ENST00000265724.3	Silent	SNP	7 : 87195527 - 87195527 G PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	582	111
ALDH16A1	126133	broad.mit.edu	37	19	49971707	49971707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:49971707G>T	ENST00000293350.4	+	15	2171	c.2008G>T	c.(2008-2010)Gac>Tac	p.D670Y	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D507Y|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D619Y|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D505Y	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	670							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGTGTGTCCGGACGAGTGGCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	143	140			NA	NA	19		NA											NA				49971707		2203	4299	6502	SO:0001583	missense			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618	126133	126133		Aldehyde dehydrogenases	28114	protein-coding gene	gene with protein product		613358			NA		Standard	NM_153329	NM_153329	NA	Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2008G>T	19.37:g.49971707G>T	ENSP00000293350:p.Asp670Tyr	NA	C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324210	0.41197	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.89	4.89	0.63831	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.101073	0.64402	D	0.000004	D	0.83912	0.5357	M	0.68593	2.085	0.35738	D	0.818491	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.959;0.967;0.995	D	0.88296	0.2946	10	0.62326	D	0.03	-6.9053	13.9554	0.64144	0.0:0.0:1.0:0.0	.	507;619;670	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	Y	670;619;507;505	ENSP00000293350:D670Y;ENSP00000410142:D619Y;ENSP00000445088:D507Y;ENSP00000398675:D505Y	ENSP00000293350:D670Y	D	+	1	0	ALDH16A1	54663519	0.965000	0.33210	0.523000	0.27875	0.062000	0.15995	2.375000	0.44283	2.426000	0.82243	0.485000	0.47835	GAC	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465358.1		+	ENST00000293350.4	Missense_Mutation	SNP	19 : 49971707 - 49971707 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	1118	284
ANKHD1	54882	broad.mit.edu	37	5	139918629	139918629	+	Silent	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:139918629A>G	ENST00000297183.6	+	33	7654	c.7530A>G	c.(7528-7530)aaA>aaG	p.K2510K	ANKHD1_ENST00000360839.2_Silent_p.K2510K|ANKHD1_ENST00000544120.1_Silent_p.K834K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2510K	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1	NA										breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGATAAAAGTTATCCAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	81	81			NA	NA	5		NA											NA				139918629		2203	4300	6503	SO:0001819	synonymous_variant			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503	54882	54882		Ankyrin repeat domain containing	24714	protein-coding gene	gene with protein product		610500			NA	10470851, 11230166, 16098192	Standard	NM_017747	NM_017747	NA	Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000297183.6:c.7530A>G	5.37:g.139918629A>G		NA		37	CCDS4224.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.539|4.539	0.100145|0.100145	0.08731|0.08731	.|.	.|.	ENSG00000131503|ENSG00000131503	ENST00000421706|ENST00000435794;ENST00000432301	T|.	0.59638|.	0.25|.	5.87|5.87	4.73|4.73	0.59995|0.59995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59445|0.59445	0.2194|0.2194	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57619|0.57619	-0.7780|-0.7780	7|4	0.87932|.	D|.	0|.	.|.	8.6414|8.6414	0.33978|0.33978	0.8578:0.0:0.1422:0.0|0.8578:0.0:0.1422:0.0	.|.	.|.	.|.	.|.	R|G	168|992;902	ENSP00000405345:K168R|.	ENSP00000405345:K168R|.	K|S	+|+	2|1	0|0	ANKHD1|ANKHD1	139898813|139898813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.347000|2.347000	0.44036|0.44036	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	AAG|AGT	ANKHD1-201	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding			+	ENST00000297183.6	Silent	SNP	5 : 139918629 - 139918629 G PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	412	84
ANXA7	310	broad.mit.edu	37	10	75156930	75156930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:75156930G>A	ENST00000372921.5	-	4	418	c.362C>T	c.(361-363)cCa>cTa	p.P121L	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	NA	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ACCAGGTAGTGGAACCTGTGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	52	55			NA	NA	10		NA											NA				75156930		2203	4300	6503	SO:0001583	missense			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279	310	310		Annexins	545	protein-coding gene	gene with protein product		186360		ANX7	NA	7515686	Standard	NM_001156	NM_001156	NA	Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.362C>T	10.37:g.75156930G>A	ENSP00000362012:p.Pro121Leu	NA	Q5F2H3|Q5T0M6|Q5T0M7	37	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641575	0.47153	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000394847	T;T	0.02606	4.23;4.4	5.48	4.46	0.54185	.	1.044460	0.07552	N	0.915625	T	0.08582	0.0213	L	0.32530	0.975	0.80722	D	1	D;D;P	0.69078	0.975;0.997;0.935	P;P;P	0.61397	0.575;0.888;0.476	T	0.29305	-1.0016	10	0.49607	T	0.09	.	12.7479	0.57291	0.0:0.0:0.801:0.199	.	48;121;121	B4DWU2;P20073-2;P20073	.;.;ANXA7_HUMAN	L	121	ENSP00000362012:P121L;ENSP00000362010:P121L	ENSP00000362010:P121L	P	-	2	0	ANXA7	74826936	1.000000	0.71417	0.968000	0.41197	0.052000	0.14988	2.523000	0.45580	2.736000	0.93811	0.555000	0.69702	CCA	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048646.2		-	ENST00000372921.5	Missense_Mutation	SNP	10 : 75156930 - 75156930 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	142	42
ARMCX1	51309	broad.mit.edu	37	X	100808322	100808322	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:100808322A>G	ENST00000372829.3	+	4	780	c.409A>G	c.(409-411)Acc>Gcc	p.T137A		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	137						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGGGAACAGGACCCTTGCACC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	68	70			NA	NA	X		NA											NA				100808322		2203	4300	6503	SO:0001583	missense			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947	51309	51309		Armadillo repeat containing	18073	protein-coding gene	gene with protein product		300362			NA	11162520, 16221301, 22569362	Standard	NM_016608	NM_016608	NA	Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.409A>G	X.37:g.100808322A>G	ENSP00000361917:p.Thr137Ala	NA	Q53HK2|Q9H2Q0	37	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	a	9.041	0.989764	0.18966	.	.	ENSG00000126947	ENST00000372829	T	0.28454	1.61	3.86	1.39	0.22231	.	0.509670	0.16809	N	0.198655	T	0.11153	0.0272	N	0.12182	0.205	0.24652	N	0.993514	B	0.06786	0.001	B	0.04013	0.001	T	0.33523	-0.9865	10	0.02654	T	1	-1.2837	3.4353	0.07444	0.6406:0.2323:0.1271:0.0	.	137	Q9P291	ARMX1_HUMAN	A	137	ENSP00000361917:T137A	ENSP00000361917:T137A	T	+	1	0	ARMCX1	100694978	0.868000	0.29978	0.977000	0.42913	0.890000	0.51754	0.859000	0.27858	0.166000	0.19597	0.451000	0.29950	ACC	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057561.1		+	ENST00000372829.3	Missense_Mutation	SNP	X : 100808322 - 100808322 G PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	293	102
BCL11B	64919	broad.mit.edu	37	14	99640770	99640770	+	Silent	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:99640770G>A	ENST00000345514.2	-	3	2456	c.2190C>T	c.(2188-2190)tgC>tgT	p.C730C	BCL11B_ENST00000443726.2_Silent_p.C607C|BCL11B_ENST00000357195.3_Silent_p.C801C	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	801						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACCTTGCCGCAGTACTCGC	0.721		NA	T	TLX3	T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													30	26	27			NA	NA	14		NA											NA				99640770		2202	4298	6500	SO:0001819	synonymous_variant			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152	64919	64919		Zinc fingers, C2H2-type	13222	protein-coding gene	gene with protein product		606558		ZNF856B	NA	11719382, 16950772	Standard	NM_138576	NM_138576	NA	Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000345514.2:c.2190C>T	14.37:g.99640770G>A		NA	Q9H162	37	CCDS9949.1																																																																																			BCL11B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072333.2		-	ENST00000345514.2	Silent	SNP	14 : 99640770 - 99640770 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	154	34
CACNA2D4	93589	broad.mit.edu	37	12	1992157	1992157	+	Missense_Mutation	SNP	G	G	C	rs138567080	by1000genomes	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:1992157G>C	ENST00000382722.5	-	13	1723	c.1361C>G	c.(1360-1362)aCg>aGg	p.T454R	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T390R|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T454R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T454R|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T390R	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	454	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGAGATCTGCGTGTAGTAGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(2;101 179 21030 23310 28141)							NA				0													56	59	58			NA	NA	12		NA											NA				1992157		2098	4227	6325	SO:0001583	missense			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062	93589	93589		Calcium channel subunits	20202	protein-coding gene	gene with protein product		608171			NA	12181424	Standard		NM_172364	NA	Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1361C>G	12.37:g.1992157G>C	ENSP00000372169:p.Thr454Arg	NA	Q7Z3S8|Q86XZ5|Q8IZS9	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187345	0.78789	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.14022	2.54	5.43	4.54	0.55810	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.04440	-1.0951	10	0.52906	T	0.07	.	14.1451	0.65347	0.0721:0.0:0.9279:0.0	.	454	Q7Z3S7	CA2D4_HUMAN	R	390;454;454	ENSP00000372169:T454R	ENSP00000280663:T454R	T	-	2	0	CACNA2D4	1862418	1.000000	0.71417	0.861000	0.33841	0.842000	0.47809	9.476000	0.97823	1.295000	0.44724	0.462000	0.41574	ACG	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398230.2		-	ENST00000382722.5	Missense_Mutation	SNP	12 : 1992157 - 1992157 C PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	73	12
CDH11	1009	broad.mit.edu	37	16	64984898	64984898	+	Missense_Mutation	SNP	G	G	A	rs147033764		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:64984898G>A	ENST00000394156.3	-	12	2119	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	CDH11_ENST00000566827.1_Missense_Mutation_p.R430W|CDH11_ENST00000268603.4_Missense_Mutation_p.R556W			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	556	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCCACGCCGGGCGTACACG	0.592		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0													53	52	52			NA	NA	16		NA											NA				64984898		2203	4300	6503	SO:0001583	missense			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937	1009	1009		Cadherins / Major cadherins	1750	protein-coding gene	gene with protein product	OB-Cadherin	600023			NA	9615235	Standard	NM_033664	NM_001797	NA	Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000394156.3:c.1666C>T	16.37:g.64984898G>A	ENSP00000377711:p.Arg556Trp	NA	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	37		.	.	.	.	.	.	.	.	.	.	G	17.16	3.319581	0.60524	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61040	2.08;0.14	5.55	4.51	0.55191	Cadherin (3);Cadherin-like (1);	0.421596	0.26193	N	0.025782	T	0.72045	0.3412	M	0.89715	3.055	0.37759	D	0.926242	D;D	0.65815	0.995;0.991	P;P	0.53861	0.736;0.462	T	0.80058	-0.1541	10	0.87932	D	0	.	9.7974	0.40744	0.0:0.1189:0.6897:0.1914	.	556;556	P55287-2;P55287	.;CAD11_HUMAN	W	556;556;539	ENSP00000268603:R556W;ENSP00000377711:R556W	ENSP00000268603:R556W	R	-	1	2	CDH11	63542399	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	1.290000	0.33319	2.594000	0.87642	0.655000	0.94253	CGG	CDH11-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000268756.1		-	ENST00000394156.3	Missense_Mutation	SNP	16 : 64984898 - 64984898 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	271	43
CDK14	5218	broad.mit.edu	37	7	90356126	90356126	+	Splice_Site	SNP	G	G	C	rs55722725		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:90356126G>C	ENST00000406263.1	+	2	673	c.231G>C	c.(229-231)tcG>tcC	p.S77S	CDK14_ENST00000436577.2_Splice_Site_p.R26P|CDK14_ENST00000380050.3_Splice_Site_p.S123S|CDK14_ENST00000265741.3_Splice_Site_p.S105S			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	123					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCCCAGCTCGGTAAGTGCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(83;1228 1256 8311 16577 31299)							NA				0													64	61	62			NA	NA	7		NA											NA				90356126		2203	4299	6502	SO:0001630	splice_region_variant				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091	5218	5218		Cyclin-dependent kinases	8883	protein-coding gene	gene with protein product		610679	PFTAIRE protein kinase 1	PFTK1	NA	9202329, 11313143, 19884882	Standard	NM_012395	XM_005250436	NA	Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000406263.1:c.231+1G>C	7.37:g.90356126G>C		NA	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	37		.	.	.	.	.	.	.	.	.	.	G	14.74	2.624665	0.46840	.	.	ENSG00000058091	ENST00000436577	T	0.46451	0.87	5.51	4.6	0.57074	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.19775	N	0.999956	P	0.43287	0.802	B	0.39465	0.3	T	0.38415	-0.9662	8	0.87932	D	0	-2.8377	14.3863	0.66947	0.0:0.0:0.7431:0.2569	.	26	E7EUK8	.	P	26	ENSP00000398936:R26P	ENSP00000398936:R26P	R	+	2	0	CDK14	90194062	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.836000	0.39191	2.588000	0.87417	0.563000	0.77884	CGG	CDK14-003	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000140390.3	Silent	+	ENST00000406263.1	Splice_Site	SNP	7 : 90356126 - 90356126 C PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	581	230
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:21971120G>A	ENST00000479692.2	-	2	99	c.85C>T	c.(85-87)Cga>Tga	p.R29*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000304494.5_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	GRCh37	CM014695	CDKN2A	M	rs121913388						11	14	13			NA	NA	9		NA											NA				21971120		2172	4246	6418	SO:0001587	stop_gained			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.85C>T	9.37:g.21971120G>A	ENSP00000466887:p.Arg29*	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Nonsense_Mutation	SNP	9 : 21971120 - 21971120 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	118	49
CEACAM3	1084	broad.mit.edu	37	19	42312866	42312866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42312866G>A	ENST00000357396.3	+	3	681	c.440G>A	c.(439-441)gGc>gAc	p.G147D	CEACAM3_ENST00000221999.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000344550.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	147						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATGCCCCAGGCCTTCCTGTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	110	107			NA	NA	19		NA											NA				42312866		2203	4300	6503	SO:0001583	missense			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956	1084	1084		CD molecules, Immunoglobulin superfamily / V-set domain containing	1815	protein-coding gene	gene with protein product		609142		CGM1	NA		Standard	NM_001815	NM_001815	NA	Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.440G>A	19.37:g.42312866G>A	ENSP00000349971:p.Gly147Asp	NA	Q3KPH9	37	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980901	0.18812	.	.	ENSG00000170956	ENST00000357396;ENST00000221999;ENST00000344550	T;T;T	0.01272	5.12;5.07;5.07	2.21	-1.96	0.07525	.	.	.	.	.	T	0.03348	0.0097	M	0.62088	1.915	0.09310	N	1	D;D	0.69078	0.995;0.997	D;D	0.68943	0.961;0.941	T	0.40403	-0.9565	9	0.17369	T	0.5	.	1.0058	0.01487	0.1539:0.2257:0.3909:0.2295	.	147;147	G5E978;P40198	.;CEAM3_HUMAN	D	147	ENSP00000349971:G147D;ENSP00000221999:G147D;ENSP00000341725:G147D	ENSP00000221999:G147D	G	+	2	0	CEACAM3	47004706	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.766000	0.26560	-0.299000	0.08909	0.514000	0.50259	GGC	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316509.2		+	ENST00000357396.3	Missense_Mutation	SNP	19 : 42312866 - 42312866 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	1360	443
CIC	23152	broad.mit.edu	37	19	42797190	42797190	+	Silent	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42797190C>A	ENST00000572681.2	+	16	6341	c.6273C>A	c.(6271-6273)atC>atA	p.I2091I	CIC_ENST00000575354.2_Silent_p.I1184I|CIC_ENST00000160740.3_Silent_p.I1182I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCAGCCATCGCCAGCATTC	0.662		NA	Mis, F, S		oligodendroglioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		19	19q13.2	23152	capicua homolog		O	0													20	23	22			NA	NA	19		NA											NA				42797190		2178	4244	6422	SO:0001819	synonymous_variant			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432	23152	23152			14214	protein-coding gene	gene with protein product		612082	capicua (Drosophila) homolog, capicua homolog (Drosophila)		NA	12393275, 15981098	Standard		NM_015125	NA	Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000572681.2:c.6273C>A	19.37:g.42797190C>A		NA	Q7LGI1|Q9UEG5|Q9Y6T1	37																																																																																				CIC-002	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000438528.3		+	ENST00000572681.2	Silent	SNP	19 : 42797190 - 42797190 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	253	78
CNTD2	79935	broad.mit.edu	37	19	40729348	40729348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:40729348C>A	ENST00000430325.2	-	4	667	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	CNTD2_ENST00000513948.1_Missense_Mutation_p.G101C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	207					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						AGCAGCGGGCCGGGGTGGTGC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	9	8			NA	NA	19		NA											NA				40729348		671	1554	2225	SO:0001583	missense			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219	79935	79935			25805	protein-coding gene	gene with protein product	cyclin P				NA	11237006	Standard	NM_024877	NM_024877	NA	Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.619G>T	19.37:g.40729348C>A	ENSP00000396755:p.Gly207Cys	NA		37	CCDS12551.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101787	0.37048	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.30981	1.51;1.52	4.02	4.02	0.46733	.	.	.	.	.	T	0.40570	0.1122	N	0.24115	0.695	0.26488	N	0.974985	D	0.89917	1.0	D	0.75020	0.985	T	0.22452	-1.0216	9	0.54805	T	0.06	.	13.1598	0.59538	0.0:1.0:0.0:0.0	.	207	B4DX65	.	C	207;101	ENSP00000396755:G207C;ENSP00000425529:G101C	ENSP00000396755:G207C	G	-	1	0	CNTD2	45421188	0.020000	0.18652	0.109000	0.21407	0.116000	0.19942	1.586000	0.36611	2.078000	0.62432	0.561000	0.74099	GGC	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360785.1		-	ENST00000430325.2	Missense_Mutation	SNP	19 : 40729348 - 40729348 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	90	31
COL22A1	169044	broad.mit.edu	37	8	139629165	139629165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:139629165C>T	ENST00000303045.6	-	54	4308	c.3862G>A	c.(3862-3864)Ggt>Agt	p.G1288S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1288	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCCGGGGACCGGGTGCACCA	0.587		NA								HNSCC(7;0.00092)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	68			NA	NA	8		NA											NA				139629165		2203	4300	6503	SO:0001583	missense			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436	169044	169044		Collagens	22989	protein-coding gene	gene with protein product		610026			NA		Standard	XM_291257	NM_152888	NA	Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3862G>A	8.37:g.139629165C>T	ENSP00000303153:p.Gly1288Ser	NA	B7ZMH0|C9K0G4|Q8IVT9	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252523	0.39797	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99329	-5.75;-5.75	4.35	4.35	0.52113	.	0.281024	0.24791	N	0.035575	D	0.99704	0.9887	H	0.99634	4.67	0.48236	D	0.999613	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97160	0.9837	10	0.87932	D	0	.	12.6914	0.56976	0.0:1.0:0.0:0.0	.	1268;1288	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1288;1268;981	ENSP00000303153:G1288S;ENSP00000387655:G1268S	ENSP00000303153:G1288S	G	-	1	0	COL22A1	139698347	0.997000	0.39634	0.990000	0.47175	0.154000	0.21943	3.554000	0.53720	2.709000	0.92574	0.555000	0.69702	GGT	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315905.2		-	ENST00000303045.6	Missense_Mutation	SNP	8 : 139629165 - 139629165 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	588	90
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	rs149912828		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									LEU/PRO	0,4404		0,0,2202	109	100	103		1970	4.5	0.6	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	98	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	657/1839	137653805	1,13003	2202	4300	6502	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1970C>T	9.37:g.137653805C>T	ENSP00000360882:p.Pro657Leu	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204150	0.22205	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.53	4.53	0.55603	.	0.152829	0.44688	U	0.000431	D	0.97835	0.9289	M	0.82823	2.61	0.51233	D	0.99991	D	0.89917	1.0	D	0.74023	0.982	D	0.98448	1.0590	10	0.87932	D	0	.	12.7642	0.57383	0.0:1.0:0.0:0.0	.	657	P20908	CO5A1_HUMAN	L	657	ENSP00000360882:P657L	ENSP00000360882:P657L	P	+	2	0	COL5A1	136793626	0.972000	0.33761	0.573000	0.28510	0.014000	0.08584	5.210000	0.65214	2.067000	0.61834	0.556000	0.70494	CCG	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137653805 - 137653805 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	419	55
CWH43	80157	broad.mit.edu	37	4	49019292	49019292	+	Silent	SNP	T	T	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:49019292T>C	ENST00000513409.1	+	9	1317	c.1132T>C	c.(1132-1134)Ttg>Ctg	p.L378L	CWH43_ENST00000226432.4_Silent_p.L405L			Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	405					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGTGTGGGATTGTTGGGATT	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	100			NA	NA	4		NA											NA				49019292		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182	80157	80157			26133	protein-coding gene	gene with protein product					NA	17714445, 17761529	Standard	NM_025087	NM_025087	NA	Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000513409.1:c.1132T>C	4.37:g.49019292T>C		NA	B2RPD7	37																																																																																				CWH43-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000361404.2		+	ENST00000513409.1	Silent	SNP	4 : 49019292 - 49019292 C PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	385	100
CYP4F22	126410	broad.mit.edu	37	19	15651359	15651359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:15651359G>A	ENST00000269703.3	+	8	969	c.770G>A	c.(769-771)cGc>cAc	p.R257H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R257H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	NA						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATTTACTACCGCTCGGCGGAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	75	70	72		770	-6.8	0	19		72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP4F22	NM_173483.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	257/532	15651359	1,13005	2203	4300	6503	SO:0001583	missense				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954	126410	126410		Cytochrome P450s	26820	protein-coding gene	gene with protein product		611495			NA	16436457	Standard	NM_173483	NM_173483	NA	Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.770G>A	19.37:g.15651359G>A	ENSP00000269703:p.Arg257His	NA	Q8N8H4	37	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274344	0.23307	0.0	1.16E-4	ENSG00000171954	ENST00000269703	T	0.68765	-0.35	5.39	-6.85	0.01681	.	0.385586	0.27406	N	0.019502	T	0.55609	0.1931	L	0.45228	1.405	0.22511	N	0.999039	B	0.09022	0.002	B	0.08055	0.003	T	0.11060	-1.0603	10	0.62326	D	0.03	.	19.8166	0.96571	0.0:0.0:0.1486:0.8514	.	257	Q6NT55	CP4FN_HUMAN	H	257	ENSP00000269703:R257H	ENSP00000269703:R257H	R	+	2	0	CYP4F22	15512359	0.063000	0.20901	0.001000	0.08648	0.004000	0.04260	0.258000	0.18387	-1.590000	0.01623	0.453000	0.30009	CGC	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461338.2		+	ENST00000269703.3	Missense_Mutation	SNP	19 : 15651359 - 15651359 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	555	237
DAB2	1601	broad.mit.edu	37	5	39383071	39383071	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:39383071C>T	ENST00000320816.6	-	10	1457	c.990G>A	c.(988-990)ccG>ccA	p.P330P	DAB2_ENST00000509337.1_Silent_p.P309P|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Silent_p.P309P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	330					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATTACTCAGCGGAGTAGACG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	94	98	96		990	-4.7	1	5		96	0,8600		0,0,4300	no	coding-synonymous	DAB2	NM_001343.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		330/771	39383071	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071	1601	1601			2662	protein-coding gene	gene with protein product		601236	disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein), disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)		NA	8660969, 9620555	Standard	NM_001343	NM_001343	NA	Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.990G>A	5.37:g.39383071C>T		NA	A6NES5|Q13598|Q9BTY0|Q9UK04	37	CCDS34149.1																																																																																			DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367014.1		-	ENST00000320816.6	Silent	SNP	5 : 39383071 - 39383071 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	663	111
FAT1	2195	broad.mit.edu	37	4	187542860	187542860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:187542860C>T	ENST00000441802.2	-	10	5089	c.4880G>A	c.(4879-4881)cGa>cAa	p.R1627Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGTTACTTCGATCTAATTC	0.368		NA								HNSCC(5;0.00058)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(197;1040 2055 4143 4984 49344)							NA				0													36	35	35			NA	NA	4		NA											NA				187542860		1856	4087	5943	SO:0001583	missense			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	2195	2195		Cadherins / Cadherin-related	3595	protein-coding gene	gene with protein product	cadherin-related family member 8	600976	FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor homolog 1 (Drosophila)	FAT	NA	8586420	Standard	NM_005245	XM_005262834	NA	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4880G>A	4.37:g.187542860C>T	ENSP00000406229:p.Arg1627Gln	NA		37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664646	0.29604	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01725	4.67	5.09	4.25	0.50352	Cadherin (4);Cadherin-like (1);	0.062767	0.64402	D	0.000004	T	0.02929	0.0087	M	0.76433	2.335	0.51482	D	0.999925	B	0.29590	0.25	B	0.23018	0.043	T	0.47341	-0.9125	10	0.27785	T	0.31	.	10.879	0.46927	0.0:0.8009:0.0:0.1991	.	1627	Q14517	FAT1_HUMAN	Q	1627;1629	ENSP00000406229:R1627Q	ENSP00000260147:R1629Q	R	-	2	0	FAT1	187779854	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.960000	0.40422	1.514000	0.48869	0.650000	0.86243	CGA	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360209.3		-	ENST00000441802.2	Missense_Mutation	SNP	4 : 187542860 - 187542860 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	158	41
FLRT2	23768	broad.mit.edu	37	14	86089365	86089365	+	Missense_Mutation	SNP	G	G	A	rs149005998		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:86089365G>A	ENST00000330753.4	+	2	2274	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A503T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	503	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTACCGCGCGGTAGAAGA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	131	119	123		1507	5.1	0.3	14	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	missense	FLRT2	NM_013231.4	58	0,4,6499	AA,AG,GG	NA	0.0233,0.0454,0.0308	benign	503/661	86089365	4,13002	2203	4300	6503	SO:0001583	missense			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070	23768	23768		Fibronectin type III domain containing	3761	protein-coding gene	gene with protein product		604807			NA	10644439, 16872596	Standard		XM_005267490	NA	Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1507G>A	14.37:g.86089365G>A	ENSP00000332879:p.Ala503Thr	NA	A0AV84|B7ZLP3	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	2.547	-0.304874	0.05495	4.54E-4	2.33E-4	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55930	0.49;0.49	6.17	5.07	0.68467	Fibronectin, type III (1);	0.164767	0.56097	N	0.000039	T	0.39091	0.1065	L	0.38175	1.15	0.31348	N	0.682867	B	0.09022	0.002	B	0.04013	0.001	T	0.39375	-0.9617	10	0.13853	T	0.58	-6.2272	10.3338	0.43837	0.1995:0.0:0.8005:0.0	.	503	O43155	FLRT2_HUMAN	T	503;503;156	ENSP00000332879:A503T;ENSP00000451050:A503T	ENSP00000332879:A503T	A	+	1	0	FLRT2	85159118	1.000000	0.71417	0.302000	0.25058	0.145000	0.21501	4.224000	0.58593	1.277000	0.44412	0.655000	0.94253	GCG	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413193.1		+	ENST00000330753.4	Missense_Mutation	SNP	14 : 86089365 - 86089365 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	888	350
FOXG1	2290	broad.mit.edu	37	14	29237195	29237195	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:29237195A>G	ENST00000313071.4	+	1	909	c.710A>G	c.(709-711)aAg>aGg	p.K237R	FOXG1_ENST00000382535.3_Missense_Mutation_p.K237R	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	237				K -> M (in Ref. 5; AAH50072).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCTCAACAAGTGCTTCGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	14		NA											NA				29237195		2203	4300	6503	SO:0001583	missense				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165	2290	2290		Forkhead boxes	3811	protein-coding gene	gene with protein product		164874	forkhead box G1B, forkhead box G1C, forkhead box G1A	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A	NA	7959731, 17260156	Standard		NM_005249	NA	Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.710A>G	14.37:g.29237195A>G	ENSP00000339004:p.Lys237Arg	NA	A6NFY2|P55315|Q14488|Q86XT7	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561743	0.86335	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.96073	-3.9;-3.9	4.01	4.01	0.46588	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.96664	0.8911	L	0.59912	1.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96908	0.9665	10	0.87932	D	0	.	12.6221	0.56610	1.0:0.0:0.0:0.0	.	237	P55316	FOXG1_HUMAN	R	237	ENSP00000371975:K237R;ENSP00000339004:K237R	ENSP00000339004:K237R	K	+	2	0	FOXG1	28306946	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.184000	0.94893	1.446000	0.47643	0.254000	0.18369	AAG	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276559.3		+	ENST00000313071.4	Missense_Mutation	SNP	14 : 29237195 - 29237195 G PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	296	115
FUS	2521	broad.mit.edu	37	16	31200485	31200485	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:31200485C>T	ENST00000254108.7	+	9	979	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	FUS_ENST00000380244.3_Silent_p.L291L|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.L293L	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	292	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTGCAAGGCCTGGGTGAGAA	0.388		NA	T	DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1	liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16p11.2	2521	fusion, derived from t(12;16) malignant liposarcoma		M, L	0													287	260	269			NA	NA	16		NA											NA				31200485		2197	4300	6497	SO:0001819	synonymous_variant			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280	2521	2521		RNA binding motif (RRM) containing	4010	protein-coding gene	gene with protein product	heterogeneous nuclear ribonucleoprotein P2, translocated in liposarcoma	137070	fusion, derived from t(12;16) malignant liposarcoma, amyotrophic lateral sclerosis 6, fusion (involved in t(12;16) in malignant liposarcoma), fused in sarcoma	ALS6	NA	2372777, 7503811, 19251628, 19251627	Standard	NM_004960	NM_004960	NA	Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.874C>T	16.37:g.31200485C>T		NA	Q9H4A8	37	CCDS10707.1																																																																																			FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255526.2		+	ENST00000254108.7	Silent	SNP	16 : 31200485 - 31200485 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	1641	316
GPR98	84059	broad.mit.edu	37	5	89971103	89971103	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:89971103C>T	ENST00000405460.2	+	24	5250	c.5154C>T	c.(5152-5154)gaC>gaT	p.D1718D	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1718					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCTAAGGACGCAATGACCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		4,4166		0,4,2081	62	65	64		5154	-4	0	5		64	0,8434		0,0,4217	no	coding-synonymous	GPR98	NM_032119.3		0,4,6298	TT,TC,CC	NA	0.0,0.0959,0.0317		1718/6307	89971103	4,12600	2085	4217	6302	SO:0001819	synonymous_variant			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5154C>T	5.37:g.89971103C>T		NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1																																																																																			GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Silent	SNP	5 : 89971103 - 89971103 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	223	25
GPRC5B	51704	broad.mit.edu	37	16	19883256	19883256	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:19883256C>T	ENST00000300571.2	-	2	1103	c.912G>A	c.(910-912)acG>acA	p.T304T	GPRC5B_ENST00000569479.1_Silent_p.T304T|GPRC5B_ENST00000537135.1_Silent_p.T330T|GPRC5B_ENST00000569847.1_Silent_p.T304T|GPRC5B_ENST00000535671.1_Silent_p.T304T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	304										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTAGTTGGGCGTGTTCTCCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	77	79			NA	NA	16		NA											NA				19883256		2197	4300	6497	SO:0001819	synonymous_variant			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191	NA	51704		GPCR / Class C : Orphans	13308	protein-coding gene	gene with protein product		605948	G protein-coupled receptor, family C, group 1, member B, G protein-coupled receptor, family C, group 5, member B		NA	10493829, 10783259	Standard		XM_005255357	NA	Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.912G>A	16.37:g.19883256C>T		NA	O75205|Q8NBZ8	37	CCDS10581.1																																																																																			GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254285.1		-	ENST00000300571.2	Silent	SNP	16 : 19883256 - 19883256 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	429	71
HMMR	3161	broad.mit.edu	37	5	162901193	162901193	+	Silent	SNP	A	A	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:162901193A>T	ENST00000393915.4	+	10	1178	c.1035A>T	c.(1033-1035)tcA>tcT	p.S345S	HMMR_ENST00000353866.3_Silent_p.S329S|HMMR_ENST00000432118.2_Silent_p.S258S|HMMR_ENST00000358715.3_Silent_p.S344S	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	344						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AAATTGATTCACTTCTGCAAC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	72	72			NA	NA	5		NA											NA				162901193		2202	4299	6501	SO:0001819	synonymous_variant			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571	3161	3161		CD molecules	5012	protein-coding gene	gene with protein product		600936			NA		Standard	NM_012484	NM_001142556	NA	Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000393915.4:c.1035A>T	5.37:g.162901193A>T		NA	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	37	CCDS47334.1																																																																																			HMMR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252751.1		+	ENST00000393915.4	Silent	SNP	5 : 162901193 - 162901193 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	233	30
INSR	3643	broad.mit.edu	37	19	7117089	7117089	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:7117089A>C	ENST00000341500.5	-	21	4130	c.4091T>G	c.(4090-4092)tTg>tGg	p.L1364W	INSR_ENST00000302850.5_Missense_Mutation_p.L1376W	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1376	PIK3R1-binding.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACCGAGGCAAGGTCAGAAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	109	115			NA	NA	19		NA											NA				7117089		2203	4300	6503	SO:0001583	missense			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105	NA	3643		CD molecules, Fibronectin type III domain containing	6091	protein-coding gene	gene with protein product		147670			NA	2983222	Standard		NM_000208	NA	Approved	CD220	uc002mgd.1	P06213		ENST00000341500.5:c.4091T>G	19.37:g.7117089A>C	ENSP00000342838:p.Leu1364Trp	NA	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	37	CCDS42487.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320919	0.60634	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.79940	-1.32;-1.32	4.9	4.9	0.64082	.	0.205339	0.23828	N	0.044170	D	0.90058	0.6895	M	0.86651	2.83	0.44562	D	0.997526	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	D	0.91501	0.5219	10	0.87932	D	0	.	12.5167	0.56036	1.0:0.0:0.0:0.0	.	1364;1376	P06213-2;P06213	.;INSR_HUMAN	W	1376;1364	ENSP00000303830:L1376W;ENSP00000342838:L1364W	ENSP00000303830:L1376W	L	-	2	0	INSR	7068089	1.000000	0.71417	0.947000	0.38551	0.478000	0.33099	6.780000	0.75063	2.057000	0.61298	0.460000	0.39030	TTG	INSR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458543.1		-	ENST00000341500.5	Missense_Mutation	SNP	19 : 7117089 - 7117089 C PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	868	178
KHDRBS3	10656	broad.mit.edu	37	8	136594144	136594144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:136594144G>A	ENST00000355849.5	+	6	1045	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	212	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GTTACAGCCCGGCCAGTTGGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	88	88			NA	NA	8		NA											NA				136594144		2203	4300	6503	SO:0001583	missense			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773	10656	10656			18117	protein-coding gene	gene with protein product		610421			NA	10332027, 10564820	Standard		XR_242372	NA	Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.635G>A	8.37:g.136594144G>A	ENSP00000348108:p.Arg212Gln	NA	Q6NUL8|Q9UPA8	37	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.942837|2.942837	0.53079|0.53079	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.45668	.|0.89	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.364746	.|0.32372	.|N	.|0.006188	T|T	0.34629|0.34629	0.0904|0.0904	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;P	.|0.44816	.|0.431;0.844	.|B;B	.|0.37833	.|0.099;0.259	T|T	0.12400|0.12400	-1.0549|-1.0549	5|10	.|0.46703	.|T	.|0.11	-17.1845|-17.1845	14.227|14.227	0.65866|0.65866	0.0:0.2458:0.7542:0.0|0.0:0.2458:0.7542:0.0	.|.	.|212;212	.|O75525-2;O75525	.|.;KHDR3_HUMAN	S|Q	127|212;184	.|ENSP00000348108:R212Q	.|ENSP00000348108:R212Q	G|R	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136663326|136663326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.822000|0.822000	0.46500|0.46500	4.526000|4.526000	0.60566|0.60566	2.843000|2.843000	0.97960|0.97960	0.585000|0.585000	0.79938|0.79938	GGC|CGG	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377529.1		+	ENST00000355849.5	Missense_Mutation	SNP	8 : 136594144 - 136594144 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	760	105
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		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.34G>T	12.37:g.25398285C>A	ENSP00000308495:p.Gly12Cys	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	275	193
LMX1B	4010	broad.mit.edu	37	9	129455511	129455511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:129455511G>A	ENST00000373474.4	+	4	657	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	LMX1B_ENST00000425646.2_Missense_Mutation_p.R194Q|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217Q|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217Q|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194Q			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	194					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AAGGACCCGCGGAGGCCCAAG	0.652		NA							Nail-Patella Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(110;1796 2278 18357 20466)							NA				0													37	39	39			NA	NA	9		NA											NA				129455511		2202	4300	6502	SO:0001583	missense	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944	4010	4010		Homeoboxes / LIM class	6654	protein-coding gene	gene with protein product		602575		NPS1	NA	9441763, 9590287	Standard		NM_002316	NA	Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.650G>A	9.37:g.129455511G>A	ENSP00000362573:p.Arg217Gln	NA	O75463|Q5JU95|Q6ISC9	37	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989886	0.93106	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.95853	-1.08;-1.08;-3.83;-1.08	4.97	4.97	0.65823	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	L	0.51422	1.61	0.80722	D	1	P;P;D	0.55800	0.8;0.88;0.973	B;B;B	0.44108	0.206;0.164;0.441	D	0.91782	0.5436	10	0.10636	T	0.68	.	17.2153	0.86941	0.0:0.0:1.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	Q	217;217;217;194	ENSP00000436930:R217Q;ENSP00000362573:R217Q;ENSP00000347684:R217Q;ENSP00000390923:R194Q	ENSP00000347684:R217Q	R	+	2	0	LMX1B	128495332	1.000000	0.71417	0.882000	0.34594	0.936000	0.57629	6.381000	0.73163	2.299000	0.77371	0.462000	0.41574	CGG	LMX1B-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054123.2		+	ENST00000373474.4	Missense_Mutation	SNP	9 : 129455511 - 129455511 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	112	9
LYZL4	131375	broad.mit.edu	37	3	42448399	42448399	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:42448399C>A	ENST00000287748.3	-	3	506	c.231G>T	c.(229-231)caG>caT	p.Q77H	LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77H|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	77					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCCACGCATCTGAAAGAGGC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	83	88			NA	NA	3		NA											NA				42448399		2203	4300	6503	SO:0001583	missense			BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093	131375	131375			28387	protein-coding gene	gene with protein product		612750			NA	12477932	Standard	NM_144634	NM_144634	NA	Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.231G>T	3.37:g.42448399C>A	ENSP00000287748:p.Gln77His	NA		37	CCDS2697.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334712	0.41297	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.78481	-1.18;-1.18	4.31	3.42	0.39159	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000002	D	0.89543	0.6745	H	0.95780	3.72	0.37506	D	0.916944	D	0.89917	1.0	D	0.91635	0.999	D	0.91121	0.4930	10	0.87932	D	0	-19.1719	7.4537	0.27252	0.0:0.8802:0.0:0.1198	.	77	Q96KX0	LYZL4_HUMAN	H	77	ENSP00000287748:Q77H;ENSP00000387897:Q77H	ENSP00000287748:Q77H	Q	-	3	2	LYZL4	42423403	1.000000	0.71417	0.999000	0.59377	0.253000	0.25986	1.310000	0.33551	2.105000	0.64084	0.563000	0.77884	CAG	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254729.2		-	ENST00000287748.3	Missense_Mutation	SNP	3 : 42448399 - 42448399 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	332	79
MROH7-TTC4	100527960	broad.mit.edu	37	1	55148429	55148429	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:55148429G>A	ENST00000414150.2	+	14	2760	c.2482G>A	c.(2482-2484)Gtc>Atc	p.V828I	MROH7_ENST00000454855.2_Missense_Mutation_p.V346I|MROH7_ENST00000409996.1_Missense_Mutation_p.V396I|MROH7_ENST00000421030.2_Missense_Mutation_p.V828I|MROH7_ENST00000545244.1_Missense_Mutation_p.V396I|MROH7_ENST00000339553.5_Missense_Mutation_p.V828I|MROH7_ENST00000395690.2_Missense_Mutation_p.V828I					MROH7-TTC4 readthrough (NMD candidate)	NA											NA						GGAGAAGCCCGTCACCAAGGA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	ILE/VAL	0,4046		0,0,2023	54	56	55		2482	2.3	0.8	1		55	1,8369		0,1,4184	no	missense	HEATR8	NM_001039464.2	29	0,1,6207	AA,AG,GG	NA	0.0119,0.0,0.0081	benign	828/1324	55148429	1,12415	2023	4185	6208	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.2482G>A	1.37:g.55148429G>A	ENSP00000410192:p.Val828Ile	NA		37		.	.	.	.	.	.	.	.	.	.	g	7.100	0.573946	0.13623	0.0	1.19E-4	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.03982	4.79;3.74;4.24;4.54;4.42;4.24	4.25	2.34	0.29019	Armadillo-type fold (1);	0.753201	0.11320	N	0.576131	T	0.03348	0.0097	L	0.33485	1.01	0.09310	N	0.999993	B;B;B;B	0.33494	0.37;0.414;0.032;0.37	B;B;B;B	0.21708	0.036;0.023;0.008;0.033	T	0.45483	-0.9258	10	0.25106	T	0.35	-8.5791	5.4036	0.16308	0.1049:0.0:0.6974:0.1977	.	828;828;396;828	F8W8P2;Q68CQ1;F5H7R4;Q68CQ1-9	.;HEAT8_HUMAN;.;.	I	828;396;857;828;396;346;828	ENSP00000396622:V828I;ENSP00000442333:V396I;ENSP00000343211:V828I;ENSP00000387048:V396I;ENSP00000401130:V346I;ENSP00000379044:V828I	ENSP00000343211:V828I	V	+	1	0	HEATR8	54921017	0.196000	0.23350	0.753000	0.31225	0.254000	0.26022	0.258000	0.18387	0.529000	0.28599	-0.355000	0.07637	GTC	MROH7-TTC4-004	KNOWN	basic|appris_candidate_longest|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000470197.1		+	ENST00000414150.2	Missense_Mutation	SNP	1 : 55148429 - 55148429 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	297	78
MUC16	94025	broad.mit.edu	37	19	9063127	9063128	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:9063127_9063128insA	ENST00000397910.4	-	3	24521_24522	c.24318_24319insT	c.(24316-24321)tttgagfs	p.E8107fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8109	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCTAGTCTCAAAAAAGCCAG	0.495		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24319dupT	19.37:g.9063133_9063133dupA	ENSP00000381008:p.Glu8107fs	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1																																																																																			MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Frame_Shift_Ins	INS	19 : 9063127 - 9063128 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	679	244
NFRKB	4798	broad.mit.edu	37	11	129735831	129735831	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:129735831C>T	ENST00000446488.3	-	24	3682	c.3579G>A	c.(3577-3579)caG>caA	p.Q1193Q	NFRKB_ENST00000304521.5_Silent_p.Q1193Q|NFRKB_ENST00000524794.1_Silent_p.Q1218Q|NFRKB_ENST00000524746.1_Silent_p.Q1193Q	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1193					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCTTCATTGGCTGGCTGATCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	114	121			NA	NA	11		NA											NA				129735831		2201	4297	6498	SO:0001819	synonymous_variant				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322	4798	4798		INO80 complex subunits	7802	protein-coding gene	gene with protein product	nuclear factor related to kappa B binding protein, DNA-binding protein R kappa B, INO80 complex subunit G	164013			NA	1427843	Standard	NM_006165	NM_006165	NA	Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3579G>A	11.37:g.129735831C>T		NA	Q12869|Q15312|Q9H048	37	CCDS44770.1																																																																																			NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386063.2		-	ENST00000446488.3	Silent	SNP	11 : 129735831 - 129735831 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	461	60
NUAK1	9891	broad.mit.edu	37	12	106460608	106460608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:106460608G>A	ENST00000261402.2	-	7	3337	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	653							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	91	89			NA	NA	12		NA											NA				106460608		2203	4300	6503	SO:0001583	missense			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590	9891	9891			14311	protein-coding gene	gene with protein product	AMP-activated protein kinase family member 5	608130			NA	12409306, 13679856	Standard	NM_014840	NM_014840	NA	Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1958C>T	12.37:g.106460608G>A	ENSP00000261402:p.Ala653Val	NA	A7MD39|Q96KA8	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203470	0.95033	.	.	ENSG00000074590	ENST00000261402	D	0.82984	-1.67	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000012	D	0.90916	0.7145	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.91082	0.4900	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	653	O60285	NUAK1_HUMAN	V	653	ENSP00000261402:A653V	ENSP00000261402:A653V	A	-	2	0	NUAK1	104984738	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	9.476000	0.97823	2.755000	0.94549	0.655000	0.94253	GCG	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405767.2		-	ENST00000261402.2	Missense_Mutation	SNP	12 : 106460608 - 106460608 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	857	219
PAPPA2	60676	broad.mit.edu	37	1	176759114	176759114	+	Splice_Site	SNP	G	G	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:176759114G>C	ENST00000367662.3	+	18	6048		c.e18+1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	NA					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACGTGAAAAGGTAAGGAACAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	146	148			NA	NA	1		NA											NA				176759114		1932	4136	6068	SO:0001630	splice_region_variant			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183	60676	60676			14615	protein-coding gene	gene with protein product			placenta-specific 3	PLAC3	NA	11018262, 11264294	Standard		NM_021936	NA	Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4884+1G>C	1.37:g.176759114G>C		NA	Q96PH7|Q96PH8|Q9H4C9	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156713	0.57259	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6377	0.85063	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA2	175025737	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	6.533000	0.73829	2.651000	0.90000	0.650000	0.86243	.	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084763.1	Intron	+	ENST00000367662.3	Splice_Site	SNP	1 : 176759114 - 176759114 C PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	740	147
PDE10A	10846	broad.mit.edu	37	6	165809905	165809905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:165809905G>A	ENST00000366882.1	-	15	1446	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	PDE10A_ENST00000539869.2_Missense_Mutation_p.T441M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T431M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	431					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.T431M(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTTTTCCATCGTTACCCGGTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(22;308 615 5753 12038 40624)							NA				1	Substitution - Missense(1)	large_intestine(1)											190	159	170			NA	NA	6		NA											NA				165809905		2203	4300	6503	SO:0001583	missense			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	10846	10846	3.1.4.17	Phosphodiesterases	8772	protein-coding gene	gene with protein product		610652			NA	10373451	Standard		NM_001130690	NA	Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1292C>T	6.37:g.165809905G>A	ENSP00000355847:p.Thr431Met	NA	Q6FHX1|Q9HCP9|Q9NTV4|Q9Y5T1	37		.	.	.	.	.	.	.	.	.	.	G	22.0	4.233162	0.79688	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69806	-0.43;-0.43	5.34	5.34	0.76211	.	1.162770	0.06098	N	0.664795	T	0.79981	0.4540	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.80764	0.994;0.882	T	0.71823	-0.4476	10	0.52906	T	0.07	.	19.0469	0.93025	0.0:0.0:1.0:0.0	.	441;431	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	431;459;441;431;430	ENSP00000355847:T431M;ENSP00000346435:T431M	ENSP00000341187:T441M	T	-	2	0	PDE10A	165729895	1.000000	0.71417	0.148000	0.22405	0.607000	0.37147	9.409000	0.97331	2.508000	0.84585	0.650000	0.86243	ACG	PDE10A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043031.1		-	ENST00000366882.1	Missense_Mutation	SNP	6 : 165809905 - 165809905 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	704	197
PIK3CG	5294	broad.mit.edu	37	7	106508944	106508944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:106508944C>T	ENST00000359195.3	+	2	1248	c.938C>T	c.(937-939)cCg>cTg	p.P313L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	313					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCAGACCCGGCCCTAGAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	53	54			NA	NA	7		NA											NA				106508944		2203	4300	6503	SO:0001583	missense				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	5294	5294	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	phosphoinositide-3-kinase, catalytic, gamma polypeptide		NA		Standard		XM_005250443	NA	Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.938C>T	7.37:g.106508944C>T	ENSP00000352121:p.Pro313Leu	NA	Q8IV23|Q9BZC8	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	4.728	0.135454	0.09032	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.68181	-0.31;-0.31;-0.31	5.75	5.75	0.90469	.	0.047482	0.85682	D	0.000000	T	0.62575	0.2439	L	0.48362	1.52	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.55579	-0.8119	10	0.24483	T	0.36	-17.0025	19.9421	0.97168	0.0:1.0:0.0:0.0	.	313	P48736	PK3CG_HUMAN	L	313	ENSP00000392258:P313L;ENSP00000419260:P313L;ENSP00000352121:P313L	ENSP00000352121:P313L	P	+	2	0	PIK3CG	106296180	1.000000	0.71417	0.967000	0.41034	0.035000	0.12851	6.044000	0.71012	2.714000	0.92807	0.561000	0.74099	CCG	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349294.1		+	ENST00000359195.3	Missense_Mutation	SNP	7 : 106508944 - 106508944 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	453	95
PLEKHA3	65977	broad.mit.edu	37	2	179368599	179368599	+	Silent	SNP	A	A	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179368599A>T	ENST00000234453.5	+	8	1290	c.888A>T	c.(886-888)ccA>ccT	p.P296P		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	NA						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ATACTCTTCCATCCTTCTCTT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	72			NA	NA	2		NA											NA				179368599		2202	4300	6502	SO:0001819	synonymous_variant			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095	65977	65977		Pleckstrin homology (PH) domain containing	14338	protein-coding gene	gene with protein product	four-phosphate-adaptor protein 1	607774	pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3		NA	11001876, 15107860	Standard	NM_019091	NM_019091	NA	Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.888A>T	2.37:g.179368599A>T		NA	Q4ZG69|Q86TQ1|Q9NXT3	37	CCDS33336.1																																																																																			PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335241.2		+	ENST00000234453.5	Silent	SNP	2 : 179368599 - 179368599 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	430	59
PLEKHH1	57475	broad.mit.edu	37	14	68044761	68044761	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:68044761G>A	ENST00000329153.5	+	19	2728	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	866	MyTH4.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCATCAACGTGCCGGTGGA	0.597		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	3e-04	SNP								NA				0													77	79	78			NA	NA	14		NA											NA				68044761		2167	4273	6440	SO:0001583	missense			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690	57475	57475		Pleckstrin homology (PH) domain containing	17733	protein-coding gene	gene with protein product					NA	10574462	Standard	XM_031054	NM_020715	NA	Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2596G>A	14.37:g.68044761G>A	ENSP00000330278:p.Val866Met	NA	A6H8X6|Q6PJL4|Q6ZWC7	37	CCDS45128.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.8	4.949389	0.92660	.	.	ENSG00000054690	ENST00000329153	T	0.73789	-0.78	5.14	5.14	0.70334	MyTH4 domain (2);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	D	0.86972	0.2098	10	0.72032	D	0.01	.	18.7908	0.91973	0.0:0.0:1.0:0.0	.	866	Q9ULM0	PKHH1_HUMAN	M	866	ENSP00000330278:V866M	ENSP00000330278:V866M	V	+	1	0	PLEKHH1	67114514	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.257000	0.95545	2.665000	0.90641	0.655000	0.94253	GTG	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412730.3		+	ENST00000329153.5	Missense_Mutation	SNP	14 : 68044761 - 68044761 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	602	218
QARS	5859	broad.mit.edu	37	3	49136038	49136038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:49136038C>A	ENST00000306125.6	-	20	2288	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	QARS_ENST00000414533.1_Missense_Mutation_p.V640F			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	651					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CTCACCTTGACAACATGCTGC	0.572		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	3		NA											NA				49136038		2203	4300	6503	SO:0001583	missense			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	5859	5859	6.1.1.18	Aminoacyl tRNA synthetases / Class I	9751	protein-coding gene	gene with protein product	glutamine tRNA ligase	603727			NA	8078941, 10393422	Standard	NM_005051	NM_005051	NA	Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1951G>T	3.37:g.49136038C>A	ENSP00000307567:p.Val651Phe	NA		37	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470300	0.43942	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.24151	1.87;1.87	5.9	-0.927	0.10451	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.277142	0.39407	N	0.001378	T	0.39200	0.1069	M	0.89785	3.06	0.80722	D	1	B;B	0.30033	0.266;0.266	B;B	0.42882	0.401;0.401	T	0.26121	-1.0112	10	0.52906	T	0.07	-11.7339	6.1598	0.20358	0.0:0.3728:0.1329:0.4943	.	640;651	B4DWJ2;P47897	.;SYQ_HUMAN	F	171;651;640	ENSP00000307567:V651F;ENSP00000390015:V640F	ENSP00000307567:V651F	V	-	1	0	QARS	49111042	1.000000	0.71417	0.173000	0.22940	0.943000	0.58893	0.624000	0.24462	-0.084000	0.12595	-0.254000	0.11334	GTC	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345689.2		-	ENST00000306125.6	Missense_Mutation	SNP	3 : 49136038 - 49136038 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	146	29
SBF2	81846	broad.mit.edu	37	11	9853827	9853827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:9853827C>T	ENST00000256190.8	-	27	3733	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1199	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCCATGGAATCCTCCAGATCG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	93	95			NA	NA	11		NA											NA				9853827		2201	4294	6495	SO:0001583	missense			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812	81846	81846		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing	2135	protein-coding gene	gene with protein product	myotubularin related 13	607697	Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding), DENN/MADD domain containing 7B	CMT4B2	NA	10644431	Standard	NM_030962	NM_030962	NA	Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3596G>A	11.37:g.9853827C>T	ENSP00000256190:p.Gly1199Glu	NA	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	37	CCDS31427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.181681|5.181681	0.94885|0.94885	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000530741|ENST00000256190	.|D	.|0.92545	.|-3.06	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Myotubularin phosphatase domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95787|0.95787	0.8629|0.8629	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.95369|0.95369	0.8462|0.8462	5|10	.|0.66056	.|D	.|0.02	.|.	20.3242|20.3242	0.98691|0.98691	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1199	.|Q86WG5	.|MTMRD_HUMAN	N|E	83|1199	.|ENSP00000256190:G1199E	.|ENSP00000256190:G1199E	D|G	-|-	1|2	0|0	SBF2|SBF2	9810403|9810403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.764000|7.764000	0.85297|0.85297	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAT|GGA	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386911.2		-	ENST00000256190.8	Missense_Mutation	SNP	11 : 9853827 - 9853827 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	333	80
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	142	124	130		779,779,929,911,803,956	5.1	1	15		130	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	29,29,29,29,29,29	0,1,6498	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/1092,260/1092,310/1142,304/1136,268/1100,319/1151	34546711	1,12997	2201	4298	6499	SO:0001583	missense			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199	9990	9990		Solute carriers	10914	protein-coding gene	gene with protein product		604878	agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)	KCC3, ACCPN	NA	10187864, 10347194	Standard	NM_005135	NM_133647	NA	Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.956G>A	15.37:g.34546711C>T	ENSP00000346112:p.Arg319His	NA	Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421433	0.96111	2.27E-4	0.0	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.86366	-2.1;-2.11;-2.11;-2.11;-1.59	5.1	5.1	0.69264	Amino acid permease domain (1);	0.063721	0.64402	N	0.000006	D	0.95601	0.8570	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;0.999;1.0	D	0.96738	0.9544	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	304;319;268;131	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	268;304;310;260;260;131	ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H	ENSP00000290209:R268H	R	-	2	0	SLC12A6	32334003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	CGT	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417991.1		-	ENST00000354181.3	Missense_Mutation	SNP	15 : 34546711 - 34546711 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	303	18
SLC18A2	6571	broad.mit.edu	37	10	119029974	119029974	+	Splice_Site	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:119029974G>T	ENST00000298472.5	+	15	1583	c.1440G>T	c.(1438-1440)atG>atT	p.M480I	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	480					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGAAAAAATGGTAAGAAAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	81			NA	NA	10		NA											NA				119029974		2203	4300	6503	SO:0001630	splice_region_variant			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646	6571	6571		Solute carriers	10935	protein-coding gene	gene with protein product		193001		VMAT2	NA		Standard	NM_003054	NM_003054	NA	Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1440+1G>T	10.37:g.119029974G>T		NA	B2RC96|D3DRC4|Q15876|Q5VW49|Q9H3P6	37	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150787	0.37923	.	.	ENSG00000165646	ENST00000298472	T	0.03524	3.9	5.77	5.77	0.91146	.	0.041993	0.85682	D	0.000000	T	0.04227	0.0117	N	0.17723	0.515	0.54753	D	0.99998	B	0.02656	0.0	B	0.06405	0.002	T	0.53683	-0.8404	10	0.36615	T	0.2	-29.9914	19.9818	0.97329	0.0:0.0:1.0:0.0	.	480	Q05940	VMAT2_HUMAN	I	480	ENSP00000298472:M480I	ENSP00000298472:M480I	M	+	3	0	SLC18A2	119019964	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.576000	0.60915	2.717000	0.92951	0.462000	0.41574	ATG	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050563.1	Missense_Mutation	+	ENST00000298472.5	Splice_Site	SNP	10 : 119029974 - 119029974 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	372	72
SLC30A1	7779	broad.mit.edu	37	1	211751575	211751575	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:211751575T>A	ENST00000367001.4	-	1	509	c.380A>T	c.(379-381)aAc>aTc	p.N127I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	127					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCCCAGCACGTTGACCAGCAG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	1		NA											NA				211751575		2195	4297	6492	SO:0001583	missense			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385	7779	7779		Solute carriers	11012	protein-coding gene	gene with protein product		609521		ZNT1	NA		Standard		NM_021194	NA	Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.380A>T	1.37:g.211751575T>A	ENSP00000355968:p.Asn127Ile	NA	Q0VAK9|Q9BZF6	37	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	T	34	5.391452	0.95988	.	.	ENSG00000170385	ENST00000367001	T	0.69685	-0.42	4.13	4.13	0.48395	.	0.048025	0.85682	D	0.000000	D	0.88043	0.6331	H	0.98646	4.29	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.92163	0.5737	10	0.87932	D	0	-13.1623	13.3232	0.60444	0.0:0.0:0.0:1.0	.	127	Q9Y6M5	ZNT1_HUMAN	I	127	ENSP00000355968:N127I	ENSP00000355968:N127I	N	-	2	0	SLC30A1	209818198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.134000	0.77268	1.742000	0.51746	0.374000	0.22700	AAC	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104738.2		-	ENST00000367001.4	Missense_Mutation	SNP	1 : 211751575 - 211751575 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	104	23
SMAD4	4089	broad.mit.edu	37	18	48593481	48593482	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr18:48593481_48593482insT	ENST00000588745.1	+	6	944_945	c.944_945insT	c.(943-948)agttacfs	p.Y316fs	SMAD4_ENST00000342988.3_Frame_Shift_Ins_p.Y412fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y412fs			Q13485	SMAD4_HUMAN	SMAD family member 4	412	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTTGTACAGAGTTACTACTTAG	0.426		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.946dupT	18.37:g.48593483_48593483dupT	ENSP00000464901:p.Tyr316fs	NA	A8K405	37	CCDS11950.1																																																																																			SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Frame_Shift_Ins	INS	18 : 48593481 - 48593482 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	331	109
SORCS3	22986	broad.mit.edu	37	10	106918737	106918737	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:106918737C>A	ENST00000369701.3	+	11	1944	c.1717C>A	c.(1717-1719)Ctt>Att	p.L573I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	573						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCCCAGGACTTGTGGTGGC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(116;1497 1690 7108 13108 14106)							NA				0													87	79	82			NA	NA	10		NA											NA				106918737		2203	4300	6503	SO:0001583	missense			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395	22986	22986			16699	protein-coding gene	gene with protein product		606285			NA	11499680	Standard	NM_014978	NM_014978	NA	Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1717C>A	10.37:g.106918737C>A	ENSP00000358715:p.Leu573Ile	NA	Q5VXF9|Q9NQJ2	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415625	0.25552	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.57273	0.41;0.41	5.77	3.92	0.45320	VPS10 (1);	0.125004	0.56097	D	0.000037	T	0.30479	0.0766	N	0.10664	0.02	0.45216	D	0.998226	B	0.16166	0.016	B	0.18263	0.021	T	0.05402	-1.0887	9	.	.	.	.	12.4007	0.55412	0.0:0.8641:0.0:0.1359	.	573	Q9UPU3	SORC3_HUMAN	I	573;18	ENSP00000358715:L573I;ENSP00000376876:L18I	.	L	+	1	0	SORCS3	106908727	0.820000	0.29190	0.995000	0.50966	0.999000	0.98932	1.484000	0.35508	0.904000	0.36572	0.650000	0.86243	CTT	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050221.1		+	ENST00000369701.3	Missense_Mutation	SNP	10 : 106918737 - 106918737 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	412	72
SUGT1	10910	broad.mit.edu	37	13	53254258	53254258	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr13:53254258G>C	ENST00000310528.8	+	12	923	c.868G>C	c.(868-870)Gat>Cat	p.D290H	SUGT1_ENST00000343788.6_Missense_Mutation_p.D322H|SUGT1_ENST00000535397.1_Missense_Mutation_p.D234H			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	NA	SGS.				mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AGATGGTTCTGATGAAGTGAA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	105	103			NA	NA	13		NA											NA				53254258		2203	4300	6503	SO:0001583	missense			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416	10910	10910			16987	protein-coding gene	gene with protein product		604098			NA	10445024	Standard		NM_006704	NA	Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000310528.8:c.868G>C	13.37:g.53254258G>C	ENSP00000308067:p.Asp290His	NA	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	37	CCDS9436.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903552	0.72754	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T	0.31769	1.48;1.53	5.22	4.38	0.52667	SGS (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.998	T	0.72818	-0.4178	10	0.72032	D	0.01	-21.0837	14.094	0.65008	0.0731:0.0:0.9269:0.0	.	234;234;322;290	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	H	322;234;290	ENSP00000367208:D322H;ENSP00000308067:D290H	ENSP00000308067:D290H	D	+	1	0	SUGT1	52152259	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	1.329000	0.45376	0.467000	0.42956	GAT	SUGT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276380.2		+	ENST00000310528.8	Missense_Mutation	SNP	13 : 53254258 - 53254258 C PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	611	312
TNXB	7148	broad.mit.edu	37	6	32038177	32038177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:32038177C>T	ENST00000375244.3	-	14	5206	c.5005G>A	c.(5005-5007)Gcc>Acc	p.A1669T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1669T			P22105	TENX_HUMAN	tenascin XB	1751	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGCTGGCGTCACCTCGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	15	15			NA	NA	6		NA											NA				32038177		1915	4096	6011	SO:0001583	missense			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477	7148	7148		Fibrinogen C domain containing, Fibronectin type III domain containing	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2	NA	8530023	Standard	NM_019105	NM_019105	NA	Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5005G>A	6.37:g.32038177C>T	ENSP00000364393:p.Ala1669Thr	NA	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	37		.	.	.	.	.	.	.	.	.	.	C	9.618	1.133059	0.21041	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55760	0.66;0.5	4.87	0.759	0.18438	.	0.363230	0.20233	N	0.096454	T	0.08714	0.0216	N	0.17379	0.485	0.09310	N	1	P	0.37352	0.591	B	0.28385	0.089	T	0.28106	-1.0054	10	0.11182	T	0.66	.	4.8372	0.13471	0.1514:0.5711:0.0:0.2775	.	1669	P22105-3	.	T	1669	ENSP00000364393:A1669T;ENSP00000364396:A1669T	ENSP00000364393:A1669T	A	-	1	0	TNXB	32146155	0.028000	0.19301	0.707000	0.30419	0.942000	0.58702	-0.065000	0.11617	0.459000	0.27016	0.609000	0.83330	GCC	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000268927.2		-	ENST00000375244.3	Missense_Mutation	SNP	6 : 32038177 - 32038177 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	118	32
TP53	7157	broad.mit.edu	37	17	7579518	7579519	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:7579518_7579519insTT	ENST00000420246.2	-	4	300_301	c.168_169insAA	c.(166-171)gaagacfs	p.D57fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D57fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.D57fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	57	Interaction with HRMT1L2.				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.0?(8)|p.A63fs*66(3)|p.E51fs*59(1)|p.E56E(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(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)		GGACCTGGGTCTTCAGTGAACC	0.599		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	18	Whole gene deletion(8)|Deletion - Frameshift(5)|Insertion - Frameshift(3)|Substitution - coding silent(1)|Deletion - In frame(1)	liver(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|stomach(1)|breast(1)|prostate(1)|pancreas(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant	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.167_168dupAA	17.37:g.7579519_7579520dupTT	ENSP00000391127:p.Asp57fs	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																																																																																			TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Frame_Shift_Ins	INS	17 : 7579518 - 7579519 TT PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	1168	553
TTN	7273	broad.mit.edu	37	2	179537144	179537144	+	Silent	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179537144G>A	ENST00000589042.1	-	154	35144	c.34920C>T	c.(34918-34920)ccC>ccT	p.P11640P	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P10339P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P11266P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11476	Glu-rich.|Pro-rich.						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)			CTTTAGCTGGGGGAACAGCTT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	174	172			NA	NA	2		NA											NA				179537144		1827	4074	5901	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.34920C>T	2.37:g.179537144G>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 : 179537144 - 179537144 A PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	1580	586
ZMIZ2	83637	broad.mit.edu	37	7	44801069	44801069	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:44801069T>G	ENST00000309315.4	+	10	1385	c.1262T>G	c.(1261-1263)tTg>tGg	p.L421W	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L389W|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L395W|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L421W|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L363W	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	421					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTGACGAGTTGCGGCTGACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(20;604 852 1948 16908 50522)							NA				0													48	58	55			NA	NA	7		NA											NA				44801069		2202	4299	6501	SO:0001583	missense			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515	83637	83637		Zinc fingers, MIZ-type	22229	protein-coding gene	gene with protein product		611196			NA		Standard	NM_031449	XM_005249866	NA	Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1262T>G	7.37:g.44801069T>G	ENSP00000311778:p.Leu421Trp	NA	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744049	0.89663	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.91	4.91	0.64330	.	0.000000	0.46145	D	0.000305	T	0.66436	0.2789	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.70245	-0.4925	10	0.72032	D	0.01	-8.1827	14.3763	0.66879	0.0:0.0:0.0:1.0	.	395;421;363	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	W	363;421;421;389;395;421	ENSP00000409648:L363W;ENSP00000311778:L421W;ENSP00000414723:L421W;ENSP00000396601:L389W;ENSP00000265346:L395W	ENSP00000265346:L395W	L	+	2	0	ZMIZ2	44767594	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.408000	0.80041	2.060000	0.61445	0.533000	0.62120	TTG	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341790.1		+	ENST00000309315.4	Missense_Mutation	SNP	7 : 44801069 - 44801069 G PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	373	65
ZNF561	93134	broad.mit.edu	37	19	9727815	9727815	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:9727815G>C	ENST00000424629.1	-	0	230				ZNF561_ENST00000326044.5_Missense_Mutation_p.D49E|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000302851.3_Missense_Mutation_p.D49E|ZNF561_ENST00000354661.4_5'UTR			Q8N587	ZN561_HUMAN	zinc finger protein 561	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CTGGGGTGAAGTCCACAGCCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	94	98			NA	NA	19		NA											NA				9727815		692	1591	2283	SO:0001623	5_prime_UTR_variant			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469	93134	93134		Zinc fingers, C2H2-type, -	28684	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152289	NM_152289	NA	Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000424629.1:c.-61C>G	19.37:g.9727815G>C		NA	Q6PJS0	37		.	.	.	.	.	.	.	.	.	.	G	0.191	-1.053706	0.01965	.	.	ENSG00000171469	ENST00000302851;ENST00000326044;ENST00000444611;ENST00000421525	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	1.72	-0.904	0.10530	Krueppel-associated box (4);	.	.	.	.	T	0.01353	0.0044	N	0.11845	0.185	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.46775	-0.9167	9	0.40728	T	0.16	.	3.7681	0.08630	0.0:0.2736:0.4482:0.2782	.	49	Q8N587	ZN561_HUMAN	E	49;49;55;49	ENSP00000303915:D49E;ENSP00000370284:D49E;ENSP00000392013:D55E;ENSP00000397599:D49E	ENSP00000303915:D49E	D	-	3	2	ZNF561	9588815	0.012000	0.17670	0.026000	0.17262	0.299000	0.27559	-1.203000	0.03019	-0.143000	0.11334	-0.834000	0.03071	GAC	ZNF561-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347358.1		-	ENST00000424629.1	5'UTR	SNP	19 : 9727815 - 9727815 C PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	293	11
ZNF99	7652	broad.mit.edu	37	19	22940448	22940448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:22940448G>T	ENST00000596209.1	-	4	2353	c.2263C>A	c.(2263-2265)Cat>Aat	p.H755N	ZNF99_ENST00000397104.3_Missense_Mutation_p.H664N	NM_001080409.2	NP_001073878.2			zinc finger protein 99	NA								p.H664D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGCAGTATGAATTACCTTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											26	27	27			NA	NA	19		NA											NA				22940448		1904	4049	5953	SO:0001583	missense			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973	7652	7652		Zinc fingers, C2H2-type, -	13175	protein-coding gene	gene with protein product		603981	zinc finger protein 99 (F8281), chromosome 19 open reading frame 9	C19orf9	NA		Standard	XM_065124	NM_001080409	NA	Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2263C>A	19.37:g.22940448G>T	ENSP00000472969:p.His755Asn	NA		37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	12.79	2.043291	0.36085	.	.	ENSG00000213973	ENST00000397104	T	0.28895	1.59	0.726	0.726	0.18248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62109	0.2401	H	0.94542	3.55	0.24997	N	0.991498	D	0.89917	1.0	D	0.97110	1.0	T	0.50608	-0.8808	9	0.87932	D	0	.	8.9692	0.35897	0.0:0.0:1.0:0.0	.	664	A8MXY4	ZNF99_HUMAN	N	664	ENSP00000380293:H664N	ENSP00000380293:H664N	H	-	1	0	ZNF99	22732288	0.998000	0.40836	0.006000	0.13384	0.035000	0.12851	4.228000	0.58619	0.680000	0.31366	0.400000	0.26472	CAT	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464591.1		-	ENST00000596209.1	Missense_Mutation	SNP	19 : 22940448 - 22940448 T PAAD-TCGA-IB-7886-Tumor-SM-2NW7Q	403	59
