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
ABCC8	6833	broad.mit.edu	37	11	17415843	17415843	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:17415843G>A	ENST00000389817.3	-	37	4583	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D	ABCC8_ENST00000302539.4_Silent_p.D1506D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1505	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCGTGGCCTCGTCCATGATGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	72	73			NA	NA	11		NA											NA				17415843		2200	4293	6493	SO:0001819	synonymous_variant			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071	6833	6833		ATP binding cassette transporters / subfamily C	59	protein-coding gene	gene with protein product	sulfonylurea receptor (hyperinsulinemia)	600509		SUR, HRINS	NA	7920639, 7716548	Standard	NM_000352	NM_000352	NA	Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4515C>T	11.37:g.17415843G>A		NA	A6NMX8|O75948|Q16583	37	CCDS31437.1																																																																																			ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389093.1		-	ENST00000389817.3	Silent	SNP	11 : 17415843 - 17415843 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	577	24
ACTG2	72	broad.mit.edu	37	2	74135852	74135852	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:74135852C>T	ENST00000409731.3	+	3	300	c.179C>T	c.(178-180)cCc>cTc	p.P60L	ACTG2_ENST00000345517.3_Missense_Mutation_p.P103L|ACTG2_ENST00000409624.1_Missense_Mutation_p.P103L	NM_001199893.1	NP_001186822.1	P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	103					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GAAGAGCACCCCACCCTGCTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	78	82			NA	NA	2		NA											NA				74135852		2203	4300	6503	SO:0001583	missense				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017	72	72			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3	NA	1710027, 1673027	Standard	NM_001615	NM_001199893	NA	Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409731.3:c.179C>T	2.37:g.74135852C>T	ENSP00000386929:p.Pro60Leu	NA	B2R7E7|D6W5H8|P12718|Q504R1|Q6FI22	37	CCDS56124.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932979	0.73442	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000442912;ENST00000409624	D;D;D;D	0.97959	-4.63;-4.63;-3.69;-4.63	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.978;0.999	D	0.98494	1.0611	10	0.87932	D	0	.	17.4422	0.87568	0.0:1.0:0.0:0.0	.	60;103	E9PG30;P63267	.;ACTH_HUMAN	L	60;103;103;103	ENSP00000386929:P60L;ENSP00000295137:P103L;ENSP00000410020:P103L;ENSP00000386857:P103L	ENSP00000295137:P103L	P	+	2	0	ACTG2	73989360	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.724000	0.93272	0.462000	0.41574	CCC	ACTG2-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328090.2		+	ENST00000409731.3	Missense_Mutation	SNP	2 : 74135852 - 74135852 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	300	10
ADAMTS5	11096	broad.mit.edu	37	21	28338459	28338459	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:28338459G>A	ENST00000284987.5	-	1	373	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	84					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACCTTGCCGCCGCCGGAGT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(53;683 1080 10100 14424 45938)							NA				0													46	45	45			NA	NA	21		NA											NA				28338459		2187	4286	6473	SO:0001819	synonymous_variant			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736	11096	11096		ADAM metallopeptidases with thrombospondin type 1 motif	221	protein-coding gene	gene with protein product	aggrecanase-2	605007	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)		NA	10438522	Standard		NM_007038	NA	Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.252C>T	21.37:g.28338459G>A		NA	Q52LV4|Q9UKP2	37	CCDS13579.1																																																																																			ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171648.1		-	ENST00000284987.5	Silent	SNP	21 : 28338459 - 28338459 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	635	28
ARID1A	8289	broad.mit.edu	37	1	27106228	27106228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:27106228C>T	ENST00000457599.2	+	20	5188	c.5188C>T	c.(5188-5190)Cag>Tag	p.Q1730*	ARID1A_ENST00000324856.7_Nonsense_Mutation_p.Q1947*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q275*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1564*	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAGCCCAGCACAGAGCCACCG	0.532		NA	Mis, N, F, S, D		clear cell ovarian carcinoma, RCC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													165	147	153			NA	NA	1		NA											NA				27106228		2203	4300	6503	SO:0001587	stop_gained			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713	8289	8289		-	11110	protein-coding gene	gene with protein product		603024	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1, AT rich interactive domain 1A (SWI- like)	C1orf4, SMARCF1	NA	9630625, 9434167	Standard	NM_139135	NM_139135	NA	Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000457599.2:c.5188C>T	1.37:g.27106228C>T	ENSP00000387636:p.Gln1730*	NA	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	37	CCDS44091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.895876|9.895876	0.99290|0.99290	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.263023|.	0.39687|.	N|.	0.001300|.	.|T	.|0.70527	.|0.3234	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68300	.|-0.5445	.|4	0.02654|.	T|.	1|.	-6.3757|-6.3757	14.6091|14.6091	0.68504|0.68504	0.1463:0.8537:0.0:0.0|0.1463:0.8537:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1947;1730;1564;275|843	.|.	ENSP00000320485:Q1947X|.	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26978815|26978815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.660000|3.660000	0.54496|0.54496	2.769000|2.769000	0.95229|0.95229	0.491000|0.491000	0.48974|0.48974	CAG|ACA	ARID1A-002	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011438.2		+	ENST00000457599.2	Nonsense_Mutation	SNP	1 : 27106228 - 27106228 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	943	39
ATPAF1	64756	broad.mit.edu	37	1	47123857	47123857	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:47123857A>T	ENST00000576409.1	-	4	562	c.500T>A	c.(499-501)cTc>cAc	p.L167H	ATPAF1_ENST00000532925.1_Missense_Mutation_p.L56H|ATPAF1_ENST00000574428.1_Missense_Mutation_p.L144H|ATPAF1_ENST00000329231.4_Missense_Mutation_p.L167H|ATPAF1_ENST00000371937.4_Missense_Mutation_p.L144H|ATPAF1_ENST00000542495.1_5'UTR			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	144					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GATTGAACTGAGAGTCTTGAA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(138;107 1777 21672 30337 52312)							NA				0													131	123	126			NA	NA	1		NA											NA				47123857		2202	4299	6501	SO:0001583	missense			AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472	64756	64756		Mitochondrial respiratory chain complex assembly factors	18803	protein-coding gene	gene with protein product		608917			NA	11410595	Standard	NM_022745	NM_022745	NA	Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000576409.1:c.500T>A	1.37:g.47123857A>T	ENSP00000460964:p.Leu167His	NA	B1AQW7|Q9H6E3	37	CCDS541.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.040846|4.040846	0.75732|0.75732	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000371937;ENST00000526821;ENST00000329231;ENST00000532925|ENST00000534216	D|.	0.85258|.	-1.96|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80297|0.80297	0.4597|0.4597	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.84033|0.84033	0.0360|0.0360	10|5	0.87932|.	D|.	0|.	-11.4791|-11.4791	13.1214|13.1214	0.59329|0.59329	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	56;144;144|.	B7Z7I6;A8MRA7;Q5TC12|.	.;.;ATPF1_HUMAN|.	H|T	144;58;144;56|16	ENSP00000361005:L144H|.	ENSP00000330685:L144H|.	L|S	-|-	2|1	0|0	ATPAF1|ATPAF1	46896444|46896444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.986000|4.986000	0.63851|0.63851	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	CTC|TCA	ATPAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021920.2		-	ENST00000576409.1	Missense_Mutation	SNP	1 : 47123857 - 47123857 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	187	17
ATR	545	broad.mit.edu	37	3	142185227	142185227	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:142185227T>G	ENST00000350721.4	-	40	6957	c.6836A>C	c.(6835-6837)aAc>aCc	p.N2279T	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.N2215T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2279					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTAGCATGGTTAGCATGGGT	0.368		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	141	145			NA	NA	3		NA											NA				142185227		2203	4300	6503	SO:0001583	missense			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6836A>C	3.37:g.142185227T>G	ENSP00000343741:p.Asn2279Thr	NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.29|17.29	3.351061|3.351061	0.61183|0.61183	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.80566|.	-1.39;-1.39|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Protein kinase-like domain (1);|.	0.188475|.	0.31199|.	U|.	0.008062|.	T|.	0.58652|.	0.2137|.	L|L	0.38175|0.38175	1.15|1.15	0.50039|0.50039	D|D	0.999842|0.999842	B|.	0.19445|.	0.036|.	B|.	0.12837|.	0.008|.	T|.	0.55509|.	-0.8130|.	10|.	0.21540|.	T|.	0.41|.	-3.5943|-3.5943	15.4542|15.4542	0.75299|0.75299	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2279|.	Q13535|.	ATR_HUMAN|.	T|Y	2279;2215|125	ENSP00000343741:N2279T;ENSP00000372581:N2215T|.	ENSP00000343741:N2279T|.	N|X	-|-	2|3	0|2	ATR|ATR	143667917|143667917	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.969000|0.969000	0.65631|0.65631	7.965000|7.965000	0.87945|0.87945	2.055000|2.055000	0.61198|0.61198	0.477000|0.477000	0.44152|0.44152	AAC|TAA	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Missense_Mutation	SNP	3 : 142185227 - 142185227 G PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	565	60
BAI2	576	broad.mit.edu	37	1	32222194	32222194	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32222194G>C	ENST00000373658.3	-	4	585	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G	BAI2_ENST00000373655.2_Missense_Mutation_p.R82G|BAI2_ENST00000398547.1_Missense_Mutation_p.R70G|BAI2_ENST00000257070.4_Missense_Mutation_p.R82G|BAI2_ENST00000398556.3_Missense_Mutation_p.R85G|BAI2_ENST00000527361.1_Missense_Mutation_p.R82G|BAI2_ENST00000398538.1_Missense_Mutation_p.R70G|BAI2_ENST00000398542.1_Missense_Mutation_p.R70G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	82					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGTTGAAGCGCAGGTAGAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	46	46			NA	NA	1		NA											NA				32222194		2202	4300	6502	SO:0001583	missense			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753	576	576		-, GPCR / Class B : Orphans	944	protein-coding gene	gene with protein product		602683			NA	9533023	Standard	NM_001703	XM_006710783	NA	Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.244C>G	1.37:g.32222194G>C	ENSP00000362762:p.Arg82Gly	NA	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328325	0.60743	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.53857	1.25;1.45;0.65;0.65;1.62;0.6;0.6;0.68;1.22;1.09	5.04	5.04	0.67666	.	0.000000	0.43579	D	0.000544	T	0.61652	0.2364	L	0.43152	1.355	0.80722	D	1	B;D;D;D;P;P	0.71674	0.015;0.998;0.965;0.995;0.831;0.941	B;D;P;P;P;P	0.65874	0.011;0.939;0.777;0.756;0.54;0.501	T	0.63967	-0.6517	10	0.87932	D	0	.	11.3219	0.49428	0.0:0.0:0.7086:0.2914	.	70;82;70;70;82;82	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	G	85;70;82;82;70;82;82;70;75;116	ENSP00000381564:R85G;ENSP00000381555:R70G;ENSP00000362762:R82G;ENSP00000362759:R82G;ENSP00000381550:R70G;ENSP00000257070:R82G;ENSP00000435397:R82G;ENSP00000381548:R70G;ENSP00000410921:R75G;ENSP00000437219:R116G	ENSP00000257070:R82G	R	-	1	0	BAI2	31994781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.598000	0.46223	2.506000	0.84524	0.462000	0.41574	CGC	BAI2-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381838.1		-	ENST00000373658.3	Missense_Mutation	SNP	1 : 32222194 - 32222194 C PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	129	11
BTBD6	90135	broad.mit.edu	37	14	105716868	105716868	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:105716868C>T	ENST00000463376.2	+	3	1633	c.1092C>T	c.(1090-1092)agC>agT	p.S364S	BTBD6_ENST00000327471.3_Silent_p.S364S|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Silent_p.S439S|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Silent_p.S439S|BRF1_ENST00000546474.1_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	439						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		TGGACGGCAGCGAACTCAGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	85	88			NA	NA	14		NA											NA				105716868		2203	4300	6503	SO:0001819	synonymous_variant			AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887	90135	90135		BTB/POZ domain containing	19897	protein-coding gene	gene with protein product					NA		Standard		NM_033271	NA	Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000463376.2:c.1092C>T	14.37:g.105716868C>T		NA	Q8IVQ7|Q9BR94	37																																																																																				BTBD6-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000350720.3		+	ENST00000463376.2	Silent	SNP	14 : 105716868 - 105716868 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	619	64
C4orf40	0	broad.mit.edu	37	4	71024100	71024100	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71024100T>C	ENST00000344526.5	+	3	320	c.131T>C	c.(130-132)aTa>aCa	p.I44T	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.I44T	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN		44			I -> L (in dbSNP:rs1612460).	I -> V (in Ref. 1; CAE45962).		extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTATGGCATACGGAATTTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	160	166			NA	NA	4		NA											NA				71024100		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000344526.5:c.131T>C	4.37:g.71024100T>C	ENSP00000343172:p.Ile44Thr	NA	A8MXP0|Q6MZR6	37	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	T	9.190	1.025685	0.19512	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.34472	1.36;1.36	1.85	-2.75	0.05914	.	.	.	.	.	T	0.21022	0.0506	N	0.14661	0.345	0.09310	N	1	P	0.41041	0.736	P	0.47251	0.542	T	0.18366	-1.0339	9	0.08837	T	0.75	2.5581	5.9415	0.19196	0.0:0.5263:0.0:0.4737	.	44	Q6MZM9	CD040_HUMAN	T	44	ENSP00000426249:I44T;ENSP00000343172:I44T	ENSP00000343172:I44T	I	+	2	0	C4orf40	71058689	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.906000	0.00701	-0.643000	0.05473	-0.363000	0.07495	ATA	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251558.1		+	ENST00000344526.5	Missense_Mutation	SNP	4 : 71024100 - 71024100 C PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	1132	65
CASC5	57082	broad.mit.edu	37	15	40898600	40898600	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:40898600C>G	ENST00000346991.5	+	4	475	c.85C>G	c.(85-87)Ccc>Gcc	p.P29A	CASC5_ENST00000399668.2_Missense_Mutation_p.P29A|CASC5_ENST00000527044.1_Missense_Mutation_p.P29A			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	29	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATATTGAAACCCCCAAGGAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	61	61			NA	NA	15		NA											NA				40898600		1795	4056	5851	SO:0001583	missense			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812	57082	57082		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	24054	protein-coding gene	gene with protein product	cancer/testis antigen 29, kinetochore null 1 homolog (C. elegans), blinkin, bub-linking kinetochore protein, protein phosphatase 1, regulatory subunit 55	609173			NA	10980622, 10780384, 18045986	Standard	NM_144508	NM_170589	NA	Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.85C>G	15.37:g.40898600C>G	ENSP00000335463:p.Pro29Ala	NA	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810592	0.32053	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000527044;ENST00000399668	T;T;T	0.22945	1.93;1.93;1.93	4.53	4.53	0.55603	.	0.240709	0.28241	N	0.016077	T	0.33498	0.0865	L	0.42245	1.32	0.27413	N	0.954519	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.60236	0.871;0.871;0.871	T	0.08106	-1.0738	10	0.17369	T	0.5	.	10.6218	0.45484	0.0:0.8052:0.1948:0.0	.	29;29;29	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	A	29	ENSP00000335463:P29A;ENSP00000432654:P29A;ENSP00000382576:P29A	ENSP00000260369:P29A	P	+	1	0	CASC5	38685892	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.404000	0.44539	2.362000	0.80069	0.467000	0.42956	CCC	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390224.2		+	ENST00000346991.5	Missense_Mutation	SNP	15 : 40898600 - 40898600 G PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	248	8
CCDC28B	79140	broad.mit.edu	37	1	32669888	32669888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32669888G>A	ENST00000421922.2	+	4	533	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Missense_Mutation_p.D145N			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	145										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGAGGAGGACGATGAAGAGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	101	103			NA	NA	1		NA											NA				32669888		2203	4300	6503	SO:0001583	missense			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050	79140	79140			28163	protein-coding gene	gene with protein product		610162			NA	16327777	Standard	NM_024296	XM_006710892	NA	Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000421922.2:c.433G>A	1.37:g.32669888G>A	ENSP00000413017:p.Asp145Asn	NA	A8K789|Q8TBV8	37		.	.	.	.	.	.	.	.	.	.	G	11.04	1.520724	0.27211	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.44881	0.99;0.91	4.5	4.5	0.54988	.	0.918054	0.09119	N	0.845946	T	0.27241	0.0668	N	0.08118	0	0.26056	N	0.981417	B	0.09022	0.002	B	0.01281	0.0	T	0.08722	-1.0708	10	0.49607	T	0.09	-26.5204	12.8892	0.58061	0.0:0.0:1.0:0.0	.	145	Q9BUN5	CC28B_HUMAN	N	145	ENSP00000362704:D145N;ENSP00000413017:D145N	ENSP00000362704:D145N	D	+	1	0	CCDC28B	32442475	0.999000	0.42202	0.824000	0.32777	0.940000	0.58332	0.923000	0.28757	2.504000	0.84457	0.561000	0.74099	GAT	CCDC28B-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000015722.1		+	ENST00000421922.2	Missense_Mutation	SNP	1 : 32669888 - 32669888 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	541	27
CNPY2	10330	broad.mit.edu	37	12	56705037	56705037	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:56705037G>A	ENST00000273308.4	-	4	906	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Silent_p.G122G|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	122	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CGATTCGGATGCCTTGTAGGT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	224	230			NA	NA	12		NA											NA				56705037		2203	4300	6503	SO:0001819	synonymous_variant			AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727	10330	10330			13529	protein-coding gene	gene with protein product		605861	transmembrane protein 4, canopy 2 homolog (zebrafish)	TMEM4	NA	10072769, 15905959	Standard	NM_014255	NM_001190991	NA	Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.366C>T	12.37:g.56705037G>A		NA	B2R7B9|Q9UHE9	37	CCDS8914.1																																																																																			CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408546.1		-	ENST00000273308.4	Silent	SNP	12 : 56705037 - 56705037 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	1325	78
COL13A1	1305	broad.mit.edu	37	10	71683572	71683572	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:71683572C>T	ENST00000398978.3	+	23	1704	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	COL13A1_ENST00000398964.3_Silent_p.V375V|COL13A1_ENST00000398968.3_Silent_p.V385V|COL13A1_ENST00000398974.3_Silent_p.V392V|COL13A1_ENST00000517713.1_Silent_p.V382V|COL13A1_ENST00000356340.3_Silent_p.V404V|COL13A1_ENST00000520267.1_Silent_p.V347V|COL13A1_ENST00000398971.3_Silent_p.V404V|COL13A1_ENST00000398966.3_Silent_p.V382V|COL13A1_ENST00000398972.3_Silent_p.V404V|COL13A1_ENST00000398969.3_Silent_p.V347V|COL13A1_ENST00000357811.3_Silent_p.V382V|COL13A1_ENST00000520133.1_Silent_p.V353V|COL13A1_ENST00000354547.3_Silent_p.V382V|COL13A1_ENST00000398973.3_Silent_p.V404V|COL13A1_ENST00000522165.1_Silent_p.V385V	NM_001130103.1	NP_001123575.1	Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	404	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGCAGGTGTCGATGGCCAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	38	37			NA	NA	10		NA											NA				71683572		2013	4188	6201	SO:0001819	synonymous_variant			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467	1305	1305		Collagens	2190	protein-coding gene	gene with protein product		120350			NA		Standard	NM_005203	NM_001130103	NA	Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1212C>T	10.37:g.71683572C>T		NA	A6NFR5|Q13992|Q13993|Q13994|Q13995|Q13996|Q5TAT4|Q5TAT5|Q7KZ33|Q7KZ49|Q99228|Q9NQ52	37	CCDS44419.1																																																																																			COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048468.1		+	ENST00000398978.3	Silent	SNP	10 : 71683572 - 71683572 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	139	8
CRB2	286204	broad.mit.edu	37	9	126129592	126129592	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:126129592G>A	ENST00000373631.3	+	5	897	c.896G>A	c.(895-897)cGc>cAc	p.R299H	CRB2_ENST00000359999.3_Missense_Mutation_p.R299H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	299	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTCAGCTTCCGCCATGCTGCG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	33	33			NA	NA	9		NA											NA				126129592		2203	4300	6503	SO:0001583	missense			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204	286204	286204			18688	protein-coding gene	gene with protein product		609720	crumbs homolog 2 (Drosophila)		NA	14767562	Standard	NM_173689	XM_005251934	NA	Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.896G>A	9.37:g.126129592G>A	ENSP00000362734:p.Arg299His	NA	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777241	0.31411	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.91843	-2.92;-2.92	5.1	-0.0543	0.13814	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.652576	0.13569	N	0.378198	T	0.81809	0.4901	N	0.19112	0.55	0.09310	N	1	B;B	0.26635	0.096;0.155	B;B	0.19148	0.006;0.024	T	0.69749	-0.5061	10	0.45353	T	0.12	.	5.2636	0.15588	0.3333:0.1413:0.5254:0.0	.	299;299	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	H	299	ENSP00000353092:R299H;ENSP00000362734:R299H	ENSP00000353092:R299H	R	+	2	0	CRB2	125169413	0.000000	0.05858	0.103000	0.21229	0.020000	0.10135	0.113000	0.15499	-0.055000	0.13244	-0.777000	0.03380	CGC	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053990.3		+	ENST00000373631.3	Missense_Mutation	SNP	9 : 126129592 - 126129592 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	285	15
DEFB119	245932	broad.mit.edu	37	20	29976959	29976959	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:29976959G>A	ENST00000376315.2	-	2	135	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	52					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACCGTTTACGATTTCGGCAG	0.458		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	2e-04	NA	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0													211	180	190			NA	NA	20		NA											NA				29976959		2203	4300	6503	SO:0001583	missense			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483	245932	245932		Defensins, beta	18099	protein-coding gene	gene with protein product			defensin, beta 120	DEFB120	NA	11854508	Standard	NM_153289	NM_153289	NA	Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376315.2:c.136C>T	20.37:g.29976959G>A	ENSP00000365492:p.Arg46Cys	NA	Q5GRG1|Q5JWP1|Q8N689	37	CCDS33455.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.6	4.551889	0.86127	.	.	ENSG00000180483	ENST00000376315	T	0.12039	2.72	3.71	2.77	0.32553	.	1.479110	0.04294	N	0.346186	T	0.10895	0.0266	.	.	.	0.09310	N	0.999997	B	0.33549	0.417	B	0.24394	0.053	T	0.26950	-1.0088	9	0.87932	D	0	-15.7844	7.0326	0.24975	0.1231:0.0:0.8769:0.0	.	46	Q8N690-2	.	C	46	ENSP00000365492:R46C	ENSP00000365492:R46C	R	-	1	0	DEFB119	29440620	0.927000	0.31430	0.106000	0.21319	0.982000	0.71751	1.371000	0.34250	1.153000	0.42468	0.563000	0.77884	CGT	DEFB119-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078507.1		-	ENST00000376315.2	Missense_Mutation	SNP	20 : 29976959 - 29976959 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	757	59
DNAH10	196385	broad.mit.edu	37	12	124352474	124352474	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:124352474G>T	ENST00000409039.3	+	42	6998	c.6973G>T	c.(6973-6975)Gat>Tat	p.D2325Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2325					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGATGTTGGATGCGTTGCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	76	76			NA	NA	12		NA											NA				124352474		1948	4140	6088	SO:0001583	missense			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	196385	196385		Axonemal dyneins	2941	protein-coding gene	gene with protein product		605884	dynein, axonemal, heavy polypeptide 10		NA		Standard		NM_207437	NA	Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6973G>T	12.37:g.124352474G>T	ENSP00000386770:p.Asp2325Tyr	NA	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797647	0.70567	.	.	ENSG00000197653	ENST00000409039	D	0.92595	-3.07	5.34	5.34	0.76211	.	0.168199	0.39687	U	0.001293	D	0.96836	0.8967	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	D	0.97569	1.0103	10	0.87932	D	0	.	19.0351	0.92974	0.0:0.0:1.0:0.0	.	2325	Q8IVF4	DYH10_HUMAN	Y	2325	ENSP00000386770:D2325Y	ENSP00000386770:D2325Y	D	+	1	0	DNAH10	122918427	1.000000	0.71417	0.963000	0.40424	0.510000	0.34073	7.974000	0.88039	2.495000	0.84180	0.467000	0.42956	GAT	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335420.3		+	ENST00000409039.3	Missense_Mutation	SNP	12 : 124352474 - 124352474 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	169	9
ENAM	10117	broad.mit.edu	37	4	71510452	71510452	+	Silent	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71510452A>G	ENST00000396073.3	+	9	3590	c.3309A>G	c.(3307-3309)gaA>gaG	p.E1103E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1103					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTACTGAGGAACAATTTAAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	94	96			NA	NA	4		NA											NA				71510452		2203	4300	6503	SO:0001819	synonymous_variant			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464	10117	10117			3344	protein-coding gene	gene with protein product		606585	amelogenesis imperfecta 2, hypocalcification (autosomal dominant)	AIH2	NA	11978766	Standard	NM_031889	NM_031889	NA	Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3309A>G	4.37:g.71510452A>G		NA	Q17RI5|Q9H3D1	37	CCDS3544.2																																																																																			ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252166.3		+	ENST00000396073.3	Silent	SNP	4 : 71510452 - 71510452 G PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	543	47
FBN2	2201	broad.mit.edu	37	5	127866347	127866347	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:127866347C>T	ENST00000508053.1	-	9	1351	c.377G>A	c.(376-378)cGt>cAt	p.R126H	FBN2_ENST00000262464.4_Missense_Mutation_p.R126H|FBN2_ENST00000508989.1_Intron			P35556	FBN2_HUMAN	fibrillin 2	126	EGF-like 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGTTAGGACGGGAACAAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	106	109			NA	NA	5		NA											NA				127866347		2203	4300	6503	SO:0001583	missense			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829	2201	2201			3604	protein-coding gene	gene with protein product	fibrillin 5	612570	congenital contractural arachnodactyly	CCA	NA	1852206, 8120105	Standard	NM_001999	NM_001999	NA	Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.377G>A	5.37:g.127866347C>T	ENSP00000424571:p.Arg126His	NA	B4DU01|Q59ES6	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829221	0.71258	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000502468	D;D;T	0.85773	-2.03;-2.03;0.12	4.59	3.71	0.42584	.	0.000000	0.64402	D	0.000003	D	0.91102	0.7199	M	0.72118	2.19	0.53005	D	0.999961	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.719	D	0.91917	0.5544	10	0.59425	D	0.04	.	14.6579	0.68847	0.1472:0.8528:0.0:0.0	.	126;126	E9PHW4;P35556	.;FBN2_HUMAN	H	126	ENSP00000262464:R126H;ENSP00000424571:R126H;ENSP00000424753:R126H	ENSP00000262464:R126H	R	-	2	0	FBN2	127894246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.243000	0.78219	1.511000	0.48818	0.655000	0.94253	CGT	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000371618.2		-	ENST00000508053.1	Missense_Mutation	SNP	5 : 127866347 - 127866347 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	440	33
FSHR	2492	broad.mit.edu	37	2	49190896	49190896	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:49190896G>T	ENST00000406846.2	-	10	1183	c.1064C>A	c.(1063-1065)cCa>cAa	p.P355Q	FSHR_ENST00000541117.1_Missense_Mutation_p.P91Q|FSHR_ENST00000304421.4_Missense_Mutation_p.P329Q|FSHR_ENST00000346173.3_Missense_Mutation_p.P293Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	355					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATCTTCACATGGGTTGAATGC	0.453		NA							Gonadal Dysgenesis, 46 XX					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													259	217	231			NA	NA	2		NA											NA				49190896		2203	4300	6503	SO:0001583	missense	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820	NA	2492		GPCR / Class A : Gonadotropin and TSH receptors	3969	protein-coding gene	gene with protein product		136435		ODG1	NA	8230163, 8855829	Standard		NM_000145	NA	Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1064C>A	2.37:g.49190896G>T	ENSP00000384708:p.Pro355Gln	NA	A8K947|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945958	0.73672	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.97470	0.9172	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98525	1.0625	9	.	.	.	.	17.7464	0.88422	0.0:0.0:1.0:0.0	.	329;293;355	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Q	355;293;329;91	ENSP00000384708:P355Q;ENSP00000333908:P293Q;ENSP00000306780:P329Q;ENSP00000444172:P91Q	.	P	-	2	0	FSHR	49044400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.673000	0.90976	0.561000	0.74099	CCA	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251367.2		-	ENST00000406846.2	Missense_Mutation	SNP	2 : 49190896 - 49190896 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	519	48
GALNT14	79623	broad.mit.edu	37	2	31178784	31178784	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:31178784G>A	ENST00000349752.5	-	5	1165	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	GALNT14_ENST00000420311.2_Missense_Mutation_p.R141W|GALNT14_ENST00000406653.1_Missense_Mutation_p.R156W|GALNT14_ENST00000324589.5_Missense_Mutation_p.R181W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R143W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	176	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTACCTTGCCGTTCATTATTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													266	245	252			NA	NA	2		NA											NA				31178784		2203	4300	6503	SO:0001583	missense			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	79623	79623	2.4.1.41	Glycosyltransferase family 2 domain containing	22946	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 14	608225	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)		NA	12507512	Standard	NM_024572	NM_024572	NA	Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.526C>T	2.37:g.31178784G>A	ENSP00000288988:p.Arg176Trp	NA	Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896951	0.72639	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	5.28	4.38	0.52667	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.85737	0.5766	H	0.99391	4.545	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0	D	0.90544	0.4504	10	0.87932	D	0	.	12.6946	0.56997	0.0:0.0:0.575:0.425	.	141;141;143;181;176;156	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	W	176;181;156;143;141;143	ENSP00000288988:R176W;ENSP00000314500:R181W;ENSP00000385435:R156W;ENSP00000348497:R143W;ENSP00000415514:R141W;ENSP00000406399:R143W	ENSP00000314500:R181W	R	-	1	2	GALNT14	31032288	1.000000	0.71417	0.800000	0.32199	0.939000	0.58152	2.181000	0.42547	1.195000	0.43115	0.561000	0.74099	CGG	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157264.1		-	ENST00000349752.5	Missense_Mutation	SNP	2 : 31178784 - 31178784 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	1931	169
GPI	2821	broad.mit.edu	37	19	34868485	34868485	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:34868485C>T	ENST00000356487.5	+	5	721	c.480C>T	c.(478-480)tcC>tcT	p.S160S	GPI_ENST00000586425.1_Silent_p.S160S|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	160					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCGGCTCCGACCTGGTGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	76	80			NA	NA	19		NA											NA				34868485		2203	4300	6503	SO:0001819	synonymous_variant			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	2821	2821	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	glucose phosphate isomerase		NA	2387591, 8575767	Standard		NM_001184722	NA	Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.480C>T	19.37:g.34868485C>T		NA	Q9BRD3|Q9BSK5|Q9UHE6	37	CCDS12437.1																																																																																			GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451693.3		+	ENST00000356487.5	Silent	SNP	19 : 34868485 - 34868485 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	553	28
GPR179	440435	broad.mit.edu	37	17	36499508	36499508	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:36499508C>T	ENST00000342292.4	-	1	185	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CGGCCTCGGCCCCCTCTAGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	37			NA	NA	17		NA											NA				36499508		1923	4102	6025	SO:0001819	synonymous_variant				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399	440435	440435		GPCR / Class C : Orphans	31371	protein-coding gene	gene with protein product		614515	GPR158-like 1, GPR179	GPR158L1	NA		Standard		NM_001004334	NA	Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.165G>A	17.37:g.36499508C>T		NA		37	CCDS42308.1																																																																																			GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255329.2		-	ENST00000342292.4	Silent	SNP	17 : 36499508 - 36499508 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	407	14
HELQ	113510	broad.mit.edu	37	4	84375061	84375061	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:84375061T>C	ENST00000510985.1	-	2	464	c.335A>G	c.(334-336)gAt>gGt	p.D112G	HELQ_ENST00000295488.3_Missense_Mutation_p.D112G|HELQ_ENST00000440639.2_5'UTR			Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	112							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTAAAGCTATCATAGTCACC	0.378		NA						Other identified genes with known or suspected DNA repair function						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	176	173			NA	NA	4		NA											NA				84375061		2203	4300	6503	SO:0001583	missense			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312	113510	113510			18536	protein-coding gene	gene with protein product		606769			NA	11751861	Standard	NM_133636	XM_005262711	NA	Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000510985.1:c.335A>G	4.37:g.84375061T>C	ENSP00000424539:p.Asp112Gly	NA	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	37		.	.	.	.	.	.	.	.	.	.	T	25.4	4.634374	0.87660	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.75367	-0.37;-0.93	5.13	5.13	0.70059	.	0.062767	0.64402	D	0.000015	D	0.83982	0.5372	M	0.61703	1.905	0.47476	D	0.999433	D;D;D;D	0.89917	0.994;0.999;1.0;0.982	P;P;D;P	0.79108	0.759;0.846;0.992;0.661	D	0.85759	0.1348	10	0.72032	D	0.01	-26.4433	15.1068	0.72326	0.0:0.0:0.0:1.0	.	112;112;75;112	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	G	112	ENSP00000295488:D112G;ENSP00000424539:D112G	ENSP00000295488:D112G	D	-	2	0	HELQ	84594085	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.946000	0.63576	2.149000	0.67028	0.533000	0.62120	GAT	HELQ-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363955.1		-	ENST00000510985.1	Missense_Mutation	SNP	4 : 84375061 - 84375061 C PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	1033	53
HS3ST2	9956	broad.mit.edu	37	16	22926868	22926868	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:22926868C>A	ENST00000261374.3	+	2	1523	c.1089C>A	c.(1087-1089)gaC>gaA	p.D363E		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	363						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TTGGGCAGGACTTCAGGTGGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	102	98			NA	NA	16		NA											NA				22926868		2195	4300	6495	SO:0001583	missense			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	9956	9956	2.8.2.23	Sulfotransferases, membrane-bound	5195	protein-coding gene	gene with protein product		604056			NA	9988767	Standard	NM_006043	NM_006043	NA	Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.1089C>A	16.37:g.22926868C>A	ENSP00000261374:p.Asp363Glu	NA	Q52LZ1	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101853	0.56183	.	.	ENSG00000122254	ENST00000261374	T	0.48522	0.81	5.11	3.15	0.36227	.	0.049322	0.85682	D	0.000000	T	0.47284	0.1437	M	0.66297	2.02	0.58432	D	0.999999	P	0.39748	0.686	B	0.41764	0.366	T	0.49000	-0.8984	10	0.49607	T	0.09	.	9.9236	0.41478	0.0:0.8365:0.0:0.1635	.	363	Q9Y278	HS3S2_HUMAN	E	363	ENSP00000261374:D363E	ENSP00000261374:D363E	D	+	3	2	HS3ST2	22834369	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.179000	0.42528	1.149000	0.42402	0.561000	0.74099	GAC	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211598.1		+	ENST00000261374.3	Missense_Mutation	SNP	16 : 22926868 - 22926868 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	602	23
IRF7	3665	broad.mit.edu	37	11	613476	613476	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:613476C>T	ENST00000330243.5	-	8	1392	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	IRF7_ENST00000397570.1_Missense_Mutation_p.A294T|IRF7_ENST00000348655.6_Missense_Mutation_p.A294T|IRF7_ENST00000397566.1_Missense_Mutation_p.A336T|IRF7_ENST00000397574.2_Missense_Mutation_p.A323T|IRF7_ENST00000397562.3_Missense_Mutation_p.A30T|IRF7_ENST00000525445.1_Missense_Mutation_p.A217T			Q92985	IRF7_HUMAN	interferon regulatory factor 7	323					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCTGTGGCCCGGACAGCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	34	32			NA	NA	11		NA											NA				613476		2200	4288	6488	SO:0001583	missense			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507	3665	3665			6122	protein-coding gene	gene with protein product		605047			NA		Standard	NM_001572	XM_005252906	NA	Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000330243.5:c.1006G>A	11.37:g.613476C>T	ENSP00000329411:p.Ala336Thr	NA	B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	37	CCDS7705.1	.	.	.	.	.	.	.	.	.	.	C	6.185	0.402214	0.11696	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000397562;ENST00000330243	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	3.84	-0.911	0.10507	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	1.324750	0.05437	N	0.547019	T	0.31482	0.0798	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.29955	0.263;0.029;0.248;0.208	B;B;B;B	0.31614	0.133;0.02;0.112;0.068	T	0.12218	-1.0556	10	0.16420	T	0.52	-2.4318	1.6157	0.02703	0.1576:0.3487:0.3081:0.1857	.	217;294;323;336	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	T	217;294;294;336;323;30;336	ENSP00000434009:A217T;ENSP00000331803:A294T;ENSP00000380700:A294T;ENSP00000380697:A336T;ENSP00000380704:A323T;ENSP00000380693:A30T;ENSP00000329411:A336T	ENSP00000329411:A336T	A	-	1	0	IRF7	603476	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.084000	0.30828	-0.269000	0.09298	0.561000	0.74099	GCC	IRF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255025.1		-	ENST00000330243.5	Missense_Mutation	SNP	11 : 613476 - 613476 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	667	38
KLRC3	3823	broad.mit.edu	37	12	10569320	10569320	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:10569320C>T	ENST00000396439.2	-	5	577	c.533G>A	c.(532-534)cGt>cAt	p.R178H	KLRC3_ENST00000381904.2_Missense_Mutation_p.R178H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R178H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R178H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3	NA										large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACTGCTGTTACGAAACACACC	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	62	62			NA	NA	12		NA											NA				10569320		2203	4296	6499	SO:0001583	missense			L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810	3823	3823		Killer cell lectin-like receptors	6376	protein-coding gene	gene with protein product		602892			NA	9598306	Standard	NM_002261	NM_002261	NA	Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.533G>A	12.37:g.10569320C>T	ENSP00000379716:p.Arg178His	NA		37	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786051	0.31593	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	2.96	2.06	0.26882	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.210694	0.24198	N	0.040642	T	0.15046	0.0363	M	0.82517	2.595	0.09310	N	1	D;P;B	0.53151	0.958;0.837;0.411	P;B;B	0.48334	0.574;0.361;0.222	T	0.07868	-1.0750	10	0.48119	T	0.1	.	5.9309	0.19138	0.0:0.8525:0.0:0.1475	.	178;178;178	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	H	178	ENSP00000437563:R178H;ENSP00000379716:R178H;ENSP00000371329:R178H;ENSP00000371328:R178H	ENSP00000371328:R178H	R	-	2	0	KLRC3;RP11-277P12.6	10460587	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.121000	0.15667	0.801000	0.34066	0.650000	0.86243	CGT	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393471.1		-	ENST00000396439.2	Missense_Mutation	SNP	12 : 10569320 - 10569320 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	249	23
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	175	17
LAMC1	3915	broad.mit.edu	37	1	182992997	182992997	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:182992997G>T	ENST00000258341.4	+	1	403	c.146G>T	c.(145-147)cGc>cTc	p.R49L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	49	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCGCAGCGCTGCATGCCC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	28	27			NA	NA	1		NA											NA				182992997		2203	4300	6503	SO:0001583	missense			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862	3915	3915		Laminins	6492	protein-coding gene	gene with protein product		150290		LAMB2	NA	3234037	Standard	NM_002293	NM_002293	NA	Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.146G>T	1.37:g.182992997G>T	ENSP00000258341:p.Arg49Leu	NA	Q5VYE7	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096975	0.94197	.	.	ENSG00000135862	ENST00000258341	T	0.32988	1.43	4.23	4.23	0.50019	Laminin, N-terminal (2);	0.142328	0.47093	U	0.000252	T	0.45175	0.1329	M	0.78456	2.415	0.80722	D	1	P;P	0.46784	0.515;0.884	B;P	0.47573	0.141;0.55	T	0.55198	-0.8178	10	0.56958	D	0.05	.	16.6058	0.84828	0.0:0.0:1.0:0.0	.	49;49	P11047;Q6NVY8	LAMC1_HUMAN;.	L	49	ENSP00000258341:R49L	ENSP00000258341:R49L	R	+	2	0	LAMC1	181259620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.254000	0.65457	1.857000	0.53885	0.591000	0.81541	CGC	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085954.2		+	ENST00000258341.4	Missense_Mutation	SNP	1 : 182992997 - 182992997 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	245	19
LRRN2	10446	broad.mit.edu	37	1	204588995	204588995	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:204588995C>T	ENST00000367175.1	-	1	2338	c.126G>A	c.(124-126)acG>acA	p.T42T	LRRN2_ENST00000367177.3_Silent_p.T42T|LRRN2_ENST00000367176.3_Silent_p.T42T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	42	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACGAGCGGGGCGTATACCAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	33	32			NA	NA	1		NA											NA				204588995		2203	4300	6503	SO:0001819	synonymous_variant			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382	10446	10446		Immunoglobulin superfamily / I-set domain containing	16914	protein-coding gene	gene with protein product	leucine rich and ankyrin repeats 1, fibronectin type III, immunoglobulin and leucine rich repeat domain 7	605492	leucine rich repeat neuronal 5	LRRN5	NA	9662332	Standard	NM_006338	NM_006338	NA	Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.126G>A	1.37:g.204588995C>T		NA	B2R624|Q5T0Y0|Q6UXM0|Q8N182	37	CCDS1448.1																																																																																			LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089894.1		-	ENST00000367175.1	Silent	SNP	1 : 204588995 - 204588995 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	275	13
MDGA1	266727	broad.mit.edu	37	6	37631799	37631799	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:37631799G>A	ENST00000434837.3	-	2	1329	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	MDGA1_ENST00000297153.7_Missense_Mutation_p.R51W|MDGA1_ENST00000505425.1_Missense_Mutation_p.R51W	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	NA	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCCCCCTCCCGGATGGTGTAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	88	87			NA	NA	6		NA											NA				37631799		2104	4234	6338	SO:0001583	missense			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139	266727	266727		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19267	protein-coding gene	gene with protein product		609626			NA	15922729, 15019943	Standard		NM_153487	NA	Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.151C>T	6.37:g.37631799G>A	ENSP00000402584:p.Arg51Trp	NA	A6NHG0|Q8NBE3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935517	0.73442	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.49432	0.78;0.78;0.78	5.25	3.45	0.39498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.160511	0.28796	N	0.014104	T	0.55273	0.1910	M	0.79258	2.445	0.46725	D	0.999177	D	0.89917	1.0	D	0.73380	0.98	T	0.59279	-0.7484	10	0.56958	D	0.05	.	9.6088	0.39650	0.0745:0.0:0.7847:0.1408	.	51	Q8NFP4	MDGA1_HUMAN	W	51	ENSP00000402584:R51W;ENSP00000297153:R51W;ENSP00000422042:R51W	ENSP00000297153:R51W	R	-	1	2	MDGA1	37739777	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	4.461000	0.60115	0.587000	0.29643	-0.150000	0.13652	CGG	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040419.3		-	ENST00000434837.3	Missense_Mutation	SNP	6 : 37631799 - 37631799 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	531	52
MDGA2	161357	broad.mit.edu	37	14	47343307	47343307	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:47343307C>T	ENST00000426342.1	-	13	2386	c.1640G>A	c.(1639-1641)aGa>aAa	p.R547K	MDGA2_ENST00000357362.3_Missense_Mutation_p.R547K|MDGA2_ENST00000399232.2_Missense_Mutation_p.R776K|MDGA2_ENST00000439988.3_Missense_Mutation_p.R845K|MDGA2_ENST00000399222.3_5'UTR	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	776	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTTGTATTTCTTGTTGCTGT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	163	166			NA	NA	14		NA											NA				47343307		1844	4098	5942	SO:0001583	missense			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915	161357	161357		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19835	protein-coding gene	gene with protein product		611128	MAM domain containing 1	MAMDC1	NA	15019943	Standard	NM_182830	NM_001113498	NA	Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000426342.1:c.1640G>A	14.37:g.47343307C>T	ENSP00000405456:p.Arg547Lys	NA		37	CCDS41948.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.041051	0.93685	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.02032	4.49;4.49;4.49;4.49	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.50627	U	0.000107	T	0.07863	0.0197	L	0.52011	1.625	0.80722	D	1	P;P	0.44877	0.845;0.804	P;P	0.55222	0.458;0.771	T	0.17653	-1.0362	10	0.44086	T	0.13	.	17.6763	0.88232	0.0:1.0:0.0:0.0	.	547;776	F6W3S7;Q7Z553	.;MDGA2_HUMAN	K	776;547;845;547	ENSP00000400011:R776K;ENSP00000405456:R547K;ENSP00000382178:R845K;ENSP00000349925:R547K	ENSP00000349925:R547K	R	-	2	0	MDGA2	46413057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.501000	0.84356	0.467000	0.42956	AGA	MDGA2-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277084.2		-	ENST00000426342.1	Missense_Mutation	SNP	14 : 47343307 - 47343307 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	542	23
MECP2	4204	broad.mit.edu	37	X	153297998	153297998	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:153297998A>G	ENST00000303391.6	-	3	286	c.37T>C	c.(37-39)Tca>Cca	p.S13P	MECP2_ENST00000460227.1_5'UTR|MECP2_ENST00000453960.2_Missense_Mutation_p.S25P|MECP2_ENST00000407218.1_Missense_Mutation_p.S13P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	13					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCTTCTGACTTTTCTTCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	77	77			NA	NA	X		NA											NA				153297998		2195	4285	6480	SO:0001583	missense			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057	4204	4204			6990	protein-coding gene	gene with protein product		300005	mental retardation, X-linked 16, mental retardation, X-linked 79, Rett syndrome, methyl CpG binding protein 2 (Rett syndrome)	RTT, MRX16, MRX79	NA	1606614, 10508514	Standard	NM_004992	NM_004992	NA	Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.37T>C	X.37:g.153297998A>G	ENSP00000301948:p.Ser13Pro	NA	O15233|Q6QHH9|Q7Z384	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701581	0.68501	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218;ENST00000415944	D;D;D;D	0.98221	-2.86;-2.82;-4.8;-2.33	5.65	5.65	0.86999	.	0.237548	0.35235	N	0.003354	D	0.97414	0.9154	L	0.27053	0.805	0.38439	D	0.946649	D;D	0.69078	0.997;0.995	P;P	0.60949	0.881;0.763	D	0.98968	1.0800	10	0.52906	T	0.07	-7.5146	13.811	0.63264	1.0:0.0:0.0:0.0	.	25;13	P51608-2;P51608	.;MECP2_HUMAN	P	13;13;25;13;13;13	ENSP00000301948:S13P;ENSP00000395535:S25P;ENSP00000384865:S13P;ENSP00000416267:S13P	ENSP00000301948:S13P	S	-	1	0	MECP2	152951192	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.596000	0.36718	1.907000	0.55213	0.430000	0.28490	TCA	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061144.1		-	ENST00000303391.6	Missense_Mutation	SNP	X : 153297998 - 153297998 G PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	368	9
MED12L	116931	broad.mit.edu	37	3	151129293	151129293	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:151129293G>A	ENST00000474524.1	+	39	6071	c.6033G>A	c.(6031-6033)caG>caA	p.Q2011Q	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2011	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGCTCTCAGAGGTGATACA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	62	61			NA	NA	3		NA											NA				151129293		2203	4300	6503	SO:0001819	synonymous_variant			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893	116931	116931			16050	protein-coding gene	gene with protein product		611318	mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like		NA	11524702	Standard	NM_053002	XM_006713487	NA	Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6033G>A	3.37:g.151129293G>A		NA	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	37	CCDS33876.1																																																																																			MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357707.2		+	ENST00000474524.1	Silent	SNP	3 : 151129293 - 151129293 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	473	39
NCBP2L	392517	broad.mit.edu	37	X	107037529	107037529	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:107037529C>T	ENST00000509000.2	+	2	277	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	NCBP2L_ENST00000372379.2_Missense_Mutation_p.R27C					nuclear cap binding protein subunit 2-like	NA										large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GTTCAGTGGCCGTAAATTTCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	51	52			NA	NA	X		NA											NA				107037529		876	1991	2867	SO:0001583	missense					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935	392517	392517		RNA binding motif (RRM) containing	31795	protein-coding gene	gene with protein product					NA		Standard	XM_373362	NG_011409	NA	Approved			A6PVI3	OTTHUMG00000022169	ENST00000509000.2:c.79C>T	X.37:g.107037529C>T	ENSP00000476955:p.Arg27Cys	NA		37		.	.	.	.	.	.	.	.	.	.	C	10.13	1.265480	0.23136	.	.	ENSG00000170935	ENST00000372379	.	.	.	4.78	-4.38	0.03622	.	0.586001	0.17115	N	0.186449	T	0.38188	0.1031	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43458	-0.9390	6	0.72032	D	0.01	-2.5654	8.4752	0.33009	0.6877:0.1242:0.1881:0.0	.	.	.	.	C	27	.	ENSP00000361454:R27C	R	+	1	0	NCBP2L	106924185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.436000	0.06922	-1.184000	0.02720	-1.088000	0.02184	CGT	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000057850.2		+	ENST00000509000.2	Missense_Mutation	SNP	X : 107037529 - 107037529 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	122	34
NLRP5	126206	broad.mit.edu	37	19	56545008	56545008	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56545008A>C	ENST00000390649.3	+	9	2548	c.2548A>C	c.(2548-2550)Aag>Cag	p.K850Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	850						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACCCACCTGAAGGAAGAGGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													251	243	246			NA	NA	19		NA											NA				56545008		1938	4149	6087	SO:0001583	missense			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487	126206	126206		Nucleotide-binding domain and leucine rich repeat containing	21269	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5	609658	NACHT, leucine rich repeat and PYD containing 5	NALP5	NA	12563287, 11925379	Standard	NM_153447	NM_153447	NA	Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2548A>C	19.37:g.56545008A>C	ENSP00000375063:p.Lys850Gln	NA	A8MTY4|Q86W29	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	A	5.972	0.363331	0.11296	.	.	ENSG00000171487	ENST00000390649	T	0.52754	0.65	3.07	-2.48	0.06423	.	1.303020	0.05712	N	0.596209	T	0.28067	0.0692	N	0.21240	0.645	0.09310	N	1	B	0.33345	0.409	B	0.27715	0.082	T	0.12863	-1.0531	10	0.33141	T	0.24	.	5.8888	0.18896	0.2931:0.5327:0.0:0.1741	.	850	P59047	NALP5_HUMAN	Q	850	ENSP00000375063:K850Q	ENSP00000375063:K850Q	K	+	1	0	NLRP5	61236820	0.003000	0.15002	0.000000	0.03702	0.018000	0.09664	0.359000	0.20233	-0.645000	0.05458	0.454000	0.30748	AAG	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313735.1		+	ENST00000390649.3	Missense_Mutation	SNP	19 : 56545008 - 56545008 C PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	1395	108
NRK	203447	broad.mit.edu	37	X	105153065	105153065	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:105153065C>T	ENST00000243300.9	+	13	1735	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	NRK_ENST00000428173.2_Missense_Mutation_p.L479F	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	478	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGCCAGGGTGCTCATGCCACT	0.547		NA								HNSCC(51;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	46	46			NA	NA	X		NA											NA				105153065		2044	4181	6225	SO:0001583	missense			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572	203447	203447			25391	protein-coding gene	gene with protein product		300791			NA		Standard	NM_198465	NM_198465	NA	Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1432C>T	X.37:g.105153065C>T	ENSP00000434830:p.Leu478Phe	NA	Q32ND6|Q5H9K2|Q6ZMP2	37		.	.	.	.	.	.	.	.	.	.	C	9.268	1.045033	0.19748	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.19105	2.17;2.17	4.49	-1.28	0.09318	.	0.656459	0.13499	N	0.383421	T	0.12518	0.0304	L	0.31065	0.9	0.19575	N	0.999962	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.001	T	0.20739	-1.0266	10	0.54805	T	0.06	.	4.6589	0.12632	0.148:0.3881:0.0:0.4639	.	146;478	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	F	478;479	ENSP00000434830:L478F;ENSP00000438378:L479F	ENSP00000434830:L478F	L	+	1	0	NRK	105039721	0.208000	0.23494	0.026000	0.17262	0.093000	0.18481	-0.620000	0.05565	-0.437000	0.07243	-0.380000	0.06706	CTC	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000106480.6		+	ENST00000243300.9	Missense_Mutation	SNP	X : 105153065 - 105153065 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	144	42
NUP205	23165	broad.mit.edu	37	7	135258466	135258466	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:135258466G>T	ENST00000285968.6	+	3	262	c.236G>T	c.(235-237)gGt>gTt	p.G79V	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	79					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCCATTCAGGGTCAACAGGGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	102	105			NA	NA	7		NA											NA				135258466		2203	4300	6503	SO:0001583	missense			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561	23165	23165			18658	protein-coding gene	gene with protein product		614352	chromosome 7 open reading frame 14	C7orf14	NA	9039502, 9348540	Standard		NM_015135	NA	Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.236G>T	7.37:g.135258466G>T	ENSP00000285968:p.Gly79Val	NA	A6H8X3|Q86YC1	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726728	0.89298	.	.	ENSG00000155561	ENST00000285968	T	0.33438	1.41	5.1	5.1	0.69264	.	0.096661	0.64402	D	0.000001	T	0.57125	0.2032	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56129	-0.8030	10	0.37606	T	0.19	1.6054	18.4985	0.90874	0.0:0.0:1.0:0.0	.	79	Q92621	NU205_HUMAN	V	79	ENSP00000285968:G79V	ENSP00000285968:G79V	G	+	2	0	NUP205	134909006	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.571000	0.98176	2.373000	0.80994	0.484000	0.47621	GGT	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340358.1		+	ENST00000285968.6	Missense_Mutation	SNP	7 : 135258466 - 135258466 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	332	11
OBSCN	84033	broad.mit.edu	37	1	228467880	228467880	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:228467880C>T	ENST00000570156.2	+	34	9025	c.8951C>T	c.(8950-8952)gCg>gTg	p.A2984V	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Splice_Site_p.A1402V|OBSCN_ENST00000284548.11_Splice_Site_p.A2555V|OBSCN_ENST00000422127.1_Splice_Site_p.A2555V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1985	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCTTGCAGCGCGGGAGGTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	52	49			NA	NA	1		NA											NA				228467880		2146	4248	6394	SO:0001630	splice_region_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.8951-1C>T	1.37:g.228467880C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	c	7.233	0.599675	0.13939	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.40756	1.02;1.02;1.02	5.35	1.32	0.21799	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.418879	0.23291	N	0.049783	T	0.44871	0.1314	L	0.37507	1.11	0.80722	D	1	P;B;D	0.89917	0.836;0.023;1.0	B;B;D	0.68765	0.2;0.002;0.96	T	0.26121	-1.0112	9	.	.	.	.	5.3495	0.16028	0.2442:0.5533:0.0:0.2025	.	2555;2555;2555	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	V	2555;2555;1402;254	ENSP00000284548:A2555V;ENSP00000409493:A2555V;ENSP00000352613:A1402V	.	A	+	2	0	OBSCN	226534503	0.040000	0.19996	0.012000	0.15200	0.314000	0.28054	0.351000	0.20096	-0.000000	0.14550	0.550000	0.68814	GCG	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3	Missense_Mutation	+	ENST00000570156.2	Splice_Site	SNP	1 : 228467880 - 228467880 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	564	51
OR5L2	26338	broad.mit.edu	37	11	55595169	55595169	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:55595169C>A	ENST00000378397.1	+	1	475	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCTCTGATTCACTCGTCCTT	0.483		NA								HNSCC(27;0.073)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	189	198			NA	NA	11		NA											NA				55595169		2200	4296	6496	SO:0001583	missense			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030	26338	26338		GPCR / Class A : Olfactory receptors	8351	protein-coding gene	gene with protein product					NA	1370859	Standard	NM_001004739	NM_001004739	NA	Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.475C>A	11.37:g.55595169C>A	ENSP00000367650:p.His159Asn	NA	Q6IF66|Q96RB2	37	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.310982	0.23821	.	.	ENSG00000205030	ENST00000378397	T	0.00262	8.4	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00496	0.0016	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56062	-0.8041	10	0.59425	D	0.04	-34.9027	12.8637	0.57928	0.163:0.837:0.0:0.0	.	159	Q8NGL0	OR5L2_HUMAN	N	159	ENSP00000367650:H159N	ENSP00000367650:H159N	H	+	1	0	OR5L2	55351745	0.000000	0.05858	0.124000	0.21820	0.008000	0.06430	0.901000	0.28445	2.613000	0.88420	0.626000	0.83405	CAC	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391516.1		+	ENST00000378397.1	Missense_Mutation	SNP	11 : 55595169 - 55595169 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	1072	95
P2RY8	286530	broad.mit.edu	37	X	1584907	1584907	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:1584907G>A	ENST00000381297.4	-	2	755	c.545C>T	c.(544-546)aCg>aTg	p.T182M		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	182						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGAGCATCGTCCACTTGAG	0.632		NA	T	CRLF2	B-ALL, Downs associated ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		X,Y	Xp22.3; Yp11.3	286530	purinergic receptor P2Y, G-protein coupled, 8		L	0													128	77	94			NA	NA	X		NA											NA				1584907		2203	4296	6499	SO:0001583	missense			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162	286530	286530		Pseudoautosomal regions / PAR1, Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	15524	protein-coding gene	gene with protein product		300525			NA	11004484	Standard	NM_178129	NM_178129	NA	Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.545C>T	X.37:g.1584907G>A	ENSP00000370697:p.Thr182Met	NA		37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	6.863	0.528508	0.13127	.	.	ENSG00000182162	ENST00000381297	T	0.37235	1.21	2.41	-0.826	0.10805	GPCR, rhodopsin-like superfamily (1);	0.698644	0.12787	U	0.439216	T	0.29158	0.0725	L	0.43923	1.385	0.09310	N	1	D	0.53885	0.963	P	0.45138	0.471	T	0.16748	-1.0392	10	0.49607	T	0.09	.	6.573	0.22549	0.0:0.2502:0.5237:0.2261	.	182	Q86VZ1	P2RY8_HUMAN	M	182	ENSP00000370697:T182M	ENSP00000370697:T182M	T	-	2	0	P2RY8	1544907	0.027000	0.19231	0.944000	0.38274	0.013000	0.08279	0.307000	0.19296	-0.018000	0.14079	0.279000	0.19357	ACG	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055602.1		-	ENST00000381297.4	Missense_Mutation	SNP	X : 1584907 - 1584907 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	247	16
PGM2	55276	broad.mit.edu	37	4	37863199	37863199	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:37863199C>A	ENST00000381967.4	+	14	1905	c.1805C>A	c.(1804-1806)cCa>cAa	p.P602Q	PGM2_ENST00000537241.1_Missense_Mutation_p.P442Q	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	602					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTTTCCAGCCACAGAAGTAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	166	162			NA	NA	4		NA											NA				37863199		2203	4300	6503	SO:0001583	missense			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	55276	55276	5.4.2.2		8906	protein-coding gene	gene with protein product	phosphopentomutase	172000			NA	9549096	Standard	NM_018290	NM_018290	NA	Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1805C>A	4.37:g.37863199C>A	ENSP00000371393:p.Pro602Gln	NA	Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	37	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182832	0.94885	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.47177	0.85;1.71	6.14	6.14	0.99180	.	0.047041	0.85682	D	0.000000	T	0.77579	0.4151	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.80692	-0.1269	10	0.87932	D	0	-14.225	20.8597	0.99761	0.0:1.0:0.0:0.0	.	602	Q96G03	PGM2_HUMAN	Q	602;442	ENSP00000371393:P602Q;ENSP00000437342:P442Q	ENSP00000371393:P602Q	P	+	2	0	PGM2	37539594	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.331000	0.79192	2.937000	0.99478	0.650000	0.86243	CCA	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215079.2		+	ENST00000381967.4	Missense_Mutation	SNP	4 : 37863199 - 37863199 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	856	63
PRR23B	389151	broad.mit.edu	37	3	138738751	138738751	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:138738751C>T	ENST00000329447.5	-	1	1017	c.753G>A	c.(751-753)ccG>ccA	p.P251P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	251	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCGTTCCGGGAGCGGCG	0.667		NA											C	1	5e-04	NA	0.0028	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.876	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0													19	23	22			NA	NA	3		NA											NA				138738751		2182	4274	6456	SO:0001819	synonymous_variant			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814	389151	389151			33764	protein-coding gene	gene with protein product					NA		Standard	NM_001013650	NM_001013650	NA	Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.753G>A	3.37:g.138738751C>T		NA	B2RNV9	37	CCDS33868.1																																																																																			PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361501.1		-	ENST00000329447.5	Silent	SNP	3 : 138738751 - 138738751 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	266	16
PTGIS	5740	broad.mit.edu	37	20	48130848	48130848	+	Missense_Mutation	SNP	C	C	T	rs13306027		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:48130848C>T	ENST00000244043.4	-	7	969	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	314					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AGGATACTCTCGAGCTCTCCG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	64	66			NA	NA	20		NA											NA				48130848		2203	4300	6503	SO:0001583	missense				CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5740	5740	5.3.99.4	Cytochrome P450s	9603	protein-coding gene	gene with protein product	cytochrome P450, family 8, subfamily A, polypeptide 1	601699			NA	8812456	Standard		NM_000961	NA	Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.940G>A	20.37:g.48130848C>T	ENSP00000244043:p.Glu314Lys	NA	Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	37	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425967	0.25726	.	.	ENSG00000124212	ENST00000244043	T	0.67698	-0.28	4.1	2.07	0.26955	.	0.753921	0.12015	N	0.507523	T	0.52741	0.1753	L	0.55213	1.73	0.09310	N	1	B	0.31705	0.336	B	0.30646	0.118	T	0.40194	-0.9576	10	0.05959	T	0.93	-9.1386	6.6996	0.23217	0.0:0.7109:0.1818:0.1073	.	314	Q16647	PTGIS_HUMAN	K	314	ENSP00000244043:E314K	ENSP00000244043:E314K	E	-	1	0	PTGIS	47564255	0.014000	0.17966	0.018000	0.16275	0.060000	0.15804	0.192000	0.17096	0.282000	0.22254	-0.305000	0.09177	GAG	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080496.2		-	ENST00000244043.4	Missense_Mutation	SNP	20 : 48130848 - 48130848 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	433	44
PTPRD	5789	broad.mit.edu	37	9	8492935	8492935	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:8492935G>A	ENST00000381196.4	-	24	2937	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Silent_p.L785L|PTPRD_ENST00000540109.1_Silent_p.L798L|PTPRD_ENST00000356435.5_Silent_p.L798L|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.L776L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	798	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTGACGGTGAGGGAGTAGG	0.493		NA								TSP Lung(15;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	184	197			NA	NA	9		NA											NA				8492935		2203	4300	6503	SO:0001819	synonymous_variant			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707	5789	5789		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9668	protein-coding gene	gene with protein product		601598			NA	7896816, 8355697	Standard		NM_002839	NA	Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2394C>T	9.37:g.8492935G>A		NA	B1ALA0	37	CCDS43786.1																																																																																			PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055395.3		-	ENST00000381196.4	Silent	SNP	9 : 8492935 - 8492935 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	878	97
RECK	8434	broad.mit.edu	37	9	36058869	36058869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:36058869C>T	ENST00000377966.3	+	3	771	c.205C>T	c.(205-207)Cga>Tga	p.R69*	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	69	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCTGTTGCAGCGAGCCCCAGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	9		NA											NA				36058869		2203	4300	6503	SO:0001587	stop_gained			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707	8434	8434			11345	protein-coding gene	gene with protein product		605227		ST15	NA	9789069	Standard		NM_021111	NA	Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.205C>T	9.37:g.36058869C>T	ENSP00000367202:p.Arg69*	NA	B2RNS1|Q5W0K6|Q8WX37	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	41	8.818781	0.98966	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.75	2.47	0.30058	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.11	13.1884	0.59695	0.5131:0.4869:0.0:0.0	.	.	.	.	X	69	.	ENSP00000367202:R69X	R	+	1	2	RECK	36048869	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.024000	0.30077	0.720000	0.32209	0.491000	0.48974	CGA	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052409.1		+	ENST00000377966.3	Nonsense_Mutation	SNP	9 : 36058869 - 36058869 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	367	44
RELN	5649	broad.mit.edu	37	7	103124188	103124188	+	Missense_Mutation	SNP	C	C	T	rs115035120	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:103124188C>T	ENST00000428762.1	-	62	10252	c.10093G>A	c.(10093-10095)Gtc>Atc	p.V3365I	RELN_ENST00000343529.5_Missense_Mutation_p.V3365I|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.V3365I|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3365					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V3365I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGTTGTTGACGCTGTATTGC	0.552		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.8999	LOWCOV,EXOME	NA	NA	5e-04	SNP	NSCLC(146;835 1944 15585 22231 52158)							NA				1	Substitution - Missense(1)	ovary(1)						C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	230	192	205		10093,10093	3.1	0.8	7	dbSNP_132	205	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	29,29	0,8,6495	TT,TC,CC	NA	0.093,0.0,0.0615	probably-damaging,probably-damaging	3365/3461,3365/3459	103124188	8,12998	2203	4300	6503	SO:0001583	missense				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056	5649	5649			9957	protein-coding gene	gene with protein product		600514			NA	9049633	Standard	NM_005045	NM_005045	NA	Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10093G>A	7.37:g.103124188C>T	ENSP00000392423:p.Val3365Ile	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.12	2.142400	0.37825	0.0	9.3E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21932	1.98;1.98;1.98	5.87	3.1	0.35709	.	0.145479	0.45606	N	0.000351	T	0.28400	0.0702	L	0.43152	1.355	0.39557	D	0.969078	B;D	0.67145	0.347;0.996	B;P	0.60415	0.054;0.874	T	0.03597	-1.1021	10	0.22706	T	0.39	.	8.8648	0.35280	0.1229:0.7486:0.0:0.1285	.	3365;3365	P78509-2;P78509	.;RELN_HUMAN	I	3365;3365;3365;882;3365	ENSP00000392423:V3365I;ENSP00000345694:V3365I;ENSP00000388446:V3365I	ENSP00000345694:V3365I	V	-	1	0	RELN	102911424	0.747000	0.28283	0.782000	0.31804	0.737000	0.42083	1.384000	0.34396	0.393000	0.25203	0.655000	0.94253	GTC	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Missense_Mutation	SNP	7 : 103124188 - 103124188 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	1077	57
SFRP2	6423	broad.mit.edu	37	4	154709592	154709592	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:154709592G>A	ENST00000274063.4	-	1	680	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	132	FZ.			Missing (in Ref. 7; AAB70792).	brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGGGGAAGCCGAAGGCGGACA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	91	88			NA	NA	4		NA											NA				154709592		2203	4300	6503	SO:0001819	synonymous_variant			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423	6423	6423		Secreted frizzled-related proteins	10777	protein-coding gene	gene with protein product		604157			NA	9391078	Standard		NM_003013	NA	Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.396C>T	4.37:g.154709592G>A		NA	B3KQR2|O14778|Q9HAP5	37	CCDS34082.1																																																																																			SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365296.1		-	ENST00000274063.4	Silent	SNP	4 : 154709592 - 154709592 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	666	28
SIM1	6492	broad.mit.edu	37	6	100896021	100896021	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:100896021C>T	ENST00000369208.3	-	8	1633		c.e8+1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	NA					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGCGCCTTACGCAAATGGTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	71	79			NA	NA	6		NA											NA				100896021		2203	4300	6503	SO:0001630	splice_region_variant			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246	6492	6492		Basic helix-loop-helix proteins	10882	protein-coding gene	gene with protein product		603128	single-minded (Drosophila) homolog 1, single-minded homolog 1 (Drosophila)		NA	9199934, 11448938	Standard	NM_005068	NM_005068	NA	Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.850+1G>A	6.37:g.100896021C>T		NA	Q5TDP7	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640537	0.29157	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	5.19	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0421	0.71799	0.1433:0.8567:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIM1	101002742	1.000000	0.71417	0.989000	0.46669	0.001000	0.01503	7.487000	0.81328	1.163000	0.42636	-0.181000	0.13052	.	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041628.3	Intron	-	ENST00000369208.3	Splice_Site	SNP	6 : 100896021 - 100896021 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	94	5
SLC10A2	6555	broad.mit.edu	37	13	103718456	103718456	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:103718456G>A	ENST00000245312.3	-	1	740	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	48					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATCCCATGGAGAACATCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	188	191			NA	NA	13		NA											NA				103718456		2203	4300	6503	SO:0001819	synonymous_variant			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255	6555	6555		Solute carriers	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT	NA	8661017	Standard		NM_000452	NA	Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.144C>T	13.37:g.103718456G>A		NA	A1L4F4|Q13839	37	CCDS9506.1																																																																																			SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045716.1		-	ENST00000245312.3	Silent	SNP	13 : 103718456 - 103718456 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	827	32
SMARCE1	6605	broad.mit.edu	37	17	38792702	38792702	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:38792702C>T	ENST00000348513.6	-	6	1094	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R35Q|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R70Q|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R35Q|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R70Q|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R87Q|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R35Q	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	105					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				AGTGAGATCTCGCCACATGCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	177	183			NA	NA	17		NA											NA				38792702		2203	4300	6503	SO:0001583	missense			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584	6605	6605			11109	protein-coding gene	gene with protein product		603111			NA	9435219	Standard	NM_003079	NM_003079	NA	Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.314G>A	17.37:g.38792702C>T	ENSP00000323967:p.Arg105Gln	NA	B3KMC1|O43539	37	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929060	0.73327	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808	D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76	5.74	5.74	0.90152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.96639	0.8903	L	0.49640	1.575	0.80722	D	1	P;B;P;B	0.39157	0.662;0.279;0.662;0.279	B;B;B;B	0.33620	0.167;0.027;0.098;0.027	D	0.96341	0.9251	10	0.54805	T	0.06	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	70;87;70;105	C0IMW5;B4DGM3;C0IMW4;Q969G3	.;.;.;SMCE1_HUMAN	Q	105;35;87;70	ENSP00000323967:R105Q;ENSP00000441857:R35Q;ENSP00000445370:R87Q;ENSP00000367039:R70Q	ENSP00000323967:R105Q	R	-	2	0	SMARCE1	36046228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.873000	0.98535	0.561000	0.74099	CGA	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257203.1		-	ENST00000348513.6	Missense_Mutation	SNP	17 : 38792702 - 38792702 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	669	53
SNX20	124460	broad.mit.edu	37	16	50711341	50711341	+	Missense_Mutation	SNP	C	C	T	rs34428900		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:50711341C>T	ENST00000300590.3	-	2	269	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SNX20_ENST00000330943.4_Missense_Mutation_p.D33N|SNX20_ENST00000423026.2_Missense_Mutation_p.D33N	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	33					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TGCGGGAGGTCGGGGCCAGTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP,ASN/ASP,ASN/ASP	1,4395	2.1+/-5.4	0,1,2197	82	83	83		97,97,97	2.2	0	16	dbSNP_126	83	0,8600		0,0,4300	no	missense,missense,missense	SNX20	NM_001144972.1,NM_153337.2,NM_182854.2	23,23,23	0,1,6497	TT,TC,CC	NA	0.0,0.0227,0.0077	benign,benign,benign	33/103,33/130,33/317	50711341	1,12995	2198	4300	6498	SO:0001583	missense			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208	124460	124460		Sorting nexins	30390	protein-coding gene	gene with protein product	selectin ligand interactor cytoplasmic 1	613281			NA	18196517, 16782399	Standard	NM_153337	NM_182854	NA	Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000300590.3:c.97G>A	16.37:g.50711341C>T	ENSP00000300590:p.Asp33Asn	NA	A8K9D5|Q08E98|Q6P4H2|Q8IV59	37	CCDS10744.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918679	0.33908	2.27E-4	0.0	ENSG00000167208	ENST00000300590;ENST00000423026;ENST00000330943;ENST00000413750	T;T;T	0.52295	0.67;0.72;1.34	4.2	2.21	0.28008	.	1.051240	0.07436	N	0.896485	T	0.48840	0.1522	L	0.27053	0.805	0.09310	N	1	D;P;D	0.71674	0.998;0.553;0.989	P;B;P	0.59948	0.866;0.059;0.727	T	0.35076	-0.9803	10	0.45353	T	0.12	-29.3821	6.0059	0.19547	0.0:0.7056:0.1911:0.1033	rs34428900	33;33;33	Q7Z614-3;Q7Z614;Q7Z614-4	.;SNX20_HUMAN;.	N	33	ENSP00000300590:D33N;ENSP00000388875:D33N;ENSP00000332062:D33N	ENSP00000300590:D33N	D	-	1	0	SNX20	49268842	0.114000	0.22134	0.008000	0.14137	0.008000	0.06430	0.376000	0.20535	0.692000	0.31613	-0.369000	0.07265	GAC	SNX20-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256878.2		-	ENST00000300590.3	Missense_Mutation	SNP	16 : 50711341 - 50711341 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	702	60
STXBP1	6812	broad.mit.edu	37	9	130442473	130442473	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:130442473C>G	ENST00000373302.3	+	17	1638	c.1499C>G	c.(1498-1500)cCt>cGt	p.P500R	STXBP1_ENST00000481942.1_Intron|STXBP1_ENST00000373299.1_Missense_Mutation_p.P500R	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	500					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAACACTACCCTTATATCTCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													268	231	243			NA	NA	9		NA											NA				130442473		2203	4300	6503	SO:0001583	missense			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854	6812	6812			11444	protein-coding gene	gene with protein product	syntaxin-binding protein 1	602926			NA	9545644	Standard	NM_003165	NM_001032221	NA	Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373302.3:c.1499C>G	9.37:g.130442473C>G	ENSP00000362399:p.Pro500Arg	NA	B1AM97|Q28208|Q62759|Q64320|Q96TG8	37	CCDS6874.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601542	0.66445	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.78481	-1.18;-1.18	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.93931	0.7214	10	0.87932	D	0	-5.0024	17.5557	0.87889	0.0:1.0:0.0:0.0	.	500;500	P61764;P61764-2	STXB1_HUMAN;.	R	454;500;332;500	ENSP00000362399:P500R;ENSP00000362396:P500R	ENSP00000362396:P500R	P	+	2	0	STXBP1	129482294	1.000000	0.71417	0.999000	0.59377	0.217000	0.24651	7.648000	0.83479	2.826000	0.97356	0.561000	0.74099	CCT	STXBP1-001	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054228.1		+	ENST00000373302.3	Missense_Mutation	SNP	9 : 130442473 - 130442473 G PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	1014	81
TENM4	26011	broad.mit.edu	37	11	78369429	78369429	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:78369429G>A	ENST00000278550.7	-	34	8446	c.7984C>T	c.(7984-7986)Cgc>Tgc	p.R2662C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						TCTGTGTAGCGTCTAGTCCTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	69	66			NA	NA	11		NA											NA				78369429		2118	4253	6371	SO:0001583	missense			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256	26011	26011			29945	protein-coding gene	gene with protein product		610084	odz, odd Oz/ten-m homolog 4 (Drosophila)	ODZ4	NA	12000766, 10625539	Standard		NM_001098816	NA	Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7984C>T	11.37:g.78369429G>A	ENSP00000278550:p.Arg2662Cys	NA		37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690695	0.88735	.	.	ENSG00000149256	ENST00000278550	D	0.90676	-2.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93875	0.7166	9	.	.	.	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	2662	Q6N022	TEN4_HUMAN	C	2662	ENSP00000278550:R2662C	.	R	-	1	0	ODZ4	78047077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.541000	0.73865	2.906000	0.99361	0.655000	0.94253	CGC	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391406.2		-	ENST00000278550.7	Missense_Mutation	SNP	11 : 78369429 - 78369429 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	228	8
TLR6	10333	broad.mit.edu	37	4	38830874	38830874	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:38830874A>G	ENST00000381950.1	-	1	286	c.221T>C	c.(220-222)tTt>tCt	p.F74S	TLR6_ENST00000436693.2_Missense_Mutation_p.F74S			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	74					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGATAGAAAGCTCATGTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	59	61			NA	NA	4		NA											NA				38830874		2203	4300	6503	SO:0001583	missense				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130	10333	10333		CD molecules	16711	protein-coding gene	gene with protein product		605403			NA	10231569	Standard		NM_006068	NA	Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.221T>C	4.37:g.38830874A>G	ENSP00000371376:p.Phe74Ser	NA	B3Y640|B6CH35|B6RFS4|B6RFS5	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	A	3.403	-0.121850	0.06838	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542;ENST00000508254;ENST00000514655	T;T;T;T	0.02140	4.43;4.43;4.43;4.43	5.55	-1.15	0.09709	.	0.635810	0.15748	N	0.246554	T	0.01061	0.0035	N	0.20483	0.58	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47484	-0.9114	10	0.05620	T	0.96	.	0.4819	0.00549	0.2689:0.1258:0.2356:0.3697	.	74	Q9Y2C9	TLR6_HUMAN	S	74	ENSP00000389600:F74S;ENSP00000371376:F74S;ENSP00000424718:F74S;ENSP00000423326:F74S	ENSP00000371376:F74S	F	-	2	0	TLR6	38507269	0.270000	0.24152	0.480000	0.27341	0.606000	0.37113	0.320000	0.19540	0.034000	0.15491	0.459000	0.35465	TTT	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250431.1		-	ENST00000381950.1	Missense_Mutation	SNP	4 : 38830874 - 38830874 G PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	334	24
TMEM231	79583	broad.mit.edu	37	16	75579249	75579249	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:75579249C>T	ENST00000568377.1	-	3	708		c.e3+1		TMEM231_ENST00000569294.1_Splice_Site|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Intron|RP11-77K12.7_ENST00000460606.1_Splice_Site|TMEM231_ENST00000258173.6_Splice_Site	NM_001077416.1	NP_001070884	Q9H6L2	TM231_HUMAN	transmembrane protein 231	NA						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCGCTCTTACGTTGTATCGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	125	125			NA	NA	16		NA											NA				75579249		1992	4157	6149	SO:0001630	splice_region_variant				CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084	79583	79583			37234	protein-coding gene	gene with protein product		614949			NA	23012439	Standard	NM_001077416	NM_001077416	NA	Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000568377.1:c.669+1G>A	16.37:g.75579249C>T		NA	A0JLU1|A6NDZ6|Q6UWW5	37	CCDS45531.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707761	0.15239	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	.	.	.	4.19	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3979	0.49854	0.0:0.9078:0.0:0.0922	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM231	74136750	1.000000	0.71417	0.962000	0.40283	0.003000	0.03518	7.478000	0.81082	1.072000	0.40860	-0.384000	0.06662	.	TMEM231-005	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435483.2	Intron	-	ENST00000568377.1	Splice_Site	SNP	16 : 75579249 - 75579249 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	981	21
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.743G>A	17.37:g.7577538C>T	ENSP00000391127:p.Arg248Gln	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577538 - 7577538 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	471	39
TRIM37	4591	broad.mit.edu	37	17	57093064	57093064	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:57093064C>T	ENST00000262294.7	-	21	2742	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	TRIM37_ENST00000393065.2_Missense_Mutation_p.R794Q|TRIM37_ENST00000376149.3_Missense_Mutation_p.R706Q|TRIM37_ENST00000393066.3_Missense_Mutation_p.R828Q	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	828						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTACACTGCCGGTCTTCAGT	0.502		NA							Mulibrey Nanism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	127	129	129		2483,2483	2.9	1	17		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TRIM37	NM_001005207.2,NM_015294.3	43,43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	828/965,828/965	57093064	1,13005	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395	4591	4591		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	7523	protein-coding gene	gene with protein product	RING-B-box-coiled-coil protein	605073	tripartite motif-containing 37	MUL	NA	9106536, 10888877	Standard	NM_015294	NM_015294	NA	Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2483G>A	17.37:g.57093064C>T	ENSP00000262294:p.Arg828Gln	NA	Q7Z3E6|Q8IYF7|Q8WYF7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280964	0.59758	0.0	1.16E-4	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.93	2.91	0.33838	.	0.162035	0.41500	N	0.000869	T	0.18002	0.0432	L	0.29908	0.895	0.39748	D	0.971849	P;P;P	0.50819	0.939;0.622;0.488	B;B;B	0.37508	0.252;0.186;0.091	T	0.03981	-1.0987	10	0.66056	D	0.02	-1.8697	7.1336	0.25515	0.1695:0.7407:0.0:0.0897	.	794;706;828	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	Q	828;828;706;794	ENSP00000376785:R828Q;ENSP00000262294:R828Q;ENSP00000365319:R706Q;ENSP00000376784:R794Q	ENSP00000262294:R828Q	R	-	2	0	TRIM37	54447846	0.717000	0.27966	1.000000	0.80357	0.931000	0.56810	0.594000	0.24014	0.476000	0.27440	0.313000	0.20887	CGG	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445930.1		-	ENST00000262294.7	Missense_Mutation	SNP	17 : 57093064 - 57093064 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	705	29
TRIP12	9320	broad.mit.edu	37	2	230660000	230660000	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:230660000G>A	ENST00000389045.3	-	23	2900	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	TRIP12_ENST00000283943.5_Missense_Mutation_p.A1213V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1261V			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAACAAAGGTGCATTACCCAC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	95	100			NA	NA	2		NA											NA				230660000		2203	4300	6503	SO:0001583	missense			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827	9320	9320			12306	protein-coding gene	gene with protein product		604506			NA	7776974	Standard	NM_004238	XM_005246961	NA	Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000389045.3:c.2828C>T	2.37:g.230660000G>A	ENSP00000373697:p.Ala943Val	NA	Q15644	37		.	.	.	.	.	.	.	.	.	.	G	15.81	2.941825	0.53079	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47177	0.86;1.18;0.85	5.74	5.74	0.90152	.	0.144194	0.64402	D	0.000009	T	0.39253	0.1071	L	0.29908	0.895	0.80722	D	1	B;B;B	0.23058	0.079;0.003;0.079	B;B;B	0.26517	0.07;0.006;0.07	T	0.13791	-1.0496	10	0.35671	T	0.21	.	15.4109	0.74917	0.0:0.1385:0.8615:0.0	.	943;1261;1213	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	1213;943;1261	ENSP00000283943:A1213V;ENSP00000373697:A943V;ENSP00000373696:A1261V	ENSP00000283943:A1213V	A	-	2	0	TRIP12	230368244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.541000	0.60670	2.712000	0.92718	0.650000	0.86243	GCA	TRIP12-005	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331865.1		-	ENST00000389045.3	Missense_Mutation	SNP	2 : 230660000 - 230660000 A PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	385	29
TTN	7273	broad.mit.edu	37	2	179574354	179574354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:179574354G>T	ENST00000589042.1	-	99	28916	c.28692C>A	c.(28690-28692)taC>taA	p.Y9564*	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y8320*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y9247*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9247							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)			CTTTGCATGTGTACAAACCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	166	165			NA	NA	2		NA											NA				179574354		2057	4198	6255	SO:0001587	stop_gained			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.28692C>A	2.37:g.179574354G>T	ENSP00000467141:p.Tyr9564*	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	59	39.972864	0.99985	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.91	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.527	0.50586	0.2349:0.0:0.7651:0.0	.	.	.	.	X	8320	.	ENSP00000343764:Y8320X	Y	-	3	2	TTN	179282599	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	1.422000	0.34826	1.508000	0.48769	0.655000	0.94253	TAC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Nonsense_Mutation	SNP	2 : 179574354 - 179574354 T PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	395	25
ZC2HC1C	79696	broad.mit.edu	37	14	75537764	75537764	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:75537764T>G	ENST00000238686.8	+	2	680	c.488T>G	c.(487-489)gTc>gGc	p.V163G	ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.V163G|ZC2HC1C_ENST00000524913.1_Missense_Mutation_p.V163G			Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	163											NA						GACCATAATGTCTACCCAAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	107	107			NA	NA	14		NA											NA				75537764		1934	4118	6052	SO:0001583	missense			AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703	79696	79696		Zinc fingers, C2HC-type containing	20354	protein-coding gene	gene with protein product			chromosome 14 open reading frame 140, family with sequence similarity 164, member C	C14orf140, FAM164C	NA		Standard	NM_001042430	XM_005268062	NA	Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000238686.8:c.488T>G	14.37:g.75537764T>G	ENSP00000238686:p.Val163Gly	NA	Q9BTA8|Q9H5S9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.238|0.238	-1.015800|-1.015800	0.02078|0.02078	.|.	.|.	ENSG00000119703|ENSG00000119703	ENST00000532198|ENST00000524913;ENST00000238686;ENST00000439583;ENST00000526130	.|T	.|0.47528	.|0.84	4.72|4.72	-1.91|-1.91	0.07641|0.07641	.|.	.|1.331170	.|0.05021	.|N	.|0.472840	T|T	0.34164|0.34164	0.0888|0.0888	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.12630	.|0.004;0.006	.|B;B	.|0.11329	.|0.006;0.003	T|T	0.19095|0.19095	-1.0316|-1.0316	5|10	.|0.13470	.|T	.|0.59	-0.1184|-0.1184	7.8033|7.8033	0.29187|0.29187	0.0:0.5574:0.1681:0.2745|0.0:0.5574:0.1681:0.2745	.|.	.|163;163	.|Q53FD0;E9PJQ0	.|F164C_HUMAN;.	A|G	30|163	.|ENSP00000435550:V163G	.|ENSP00000238686:V163G	S|V	+|+	1|2	0|0	FAM164C|FAM164C	74607517|74607517	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.169000|0.169000	0.22640|0.22640	-0.747000|-0.747000	0.04823|0.04823	-0.524000|-0.524000	0.06400|0.06400	0.455000|0.455000	0.32223|0.32223	TCT|GTC	ZC2HC1C-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415019.1		+	ENST00000238686.8	Missense_Mutation	SNP	14 : 75537764 - 75537764 G PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	896	72
ZNF721	170960	broad.mit.edu	37	4	435583	435583	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:435583T>G	ENST00000338977.5	-	2	2685	c.2637A>C	c.(2635-2637)aaA>aaC	p.K879N	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.K891N|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721	NA										endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACGTGTAGGGTTTCTCTCCAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	68	67			NA	NA	4		NA											NA				435583		2029	4210	6239	SO:0001583	missense			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903	170960	170960		Zinc fingers, C2H2-type, -	29425	protein-coding gene	gene with protein product					NA	11853319	Standard	NM_133474	NM_133474	NA	Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2637A>C	4.37:g.435583T>G	ENSP00000340524:p.Lys879Asn	NA		37		.	.	.	.	.	.	.	.	.	.	T	9.545	1.114493	0.20795	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.26067	1.76;1.76	0.539	0.539	0.17156	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44871	0.1314	M	0.85710	2.77	0.24306	N	0.995109	D;D;D	0.67145	0.996;0.996;0.995	P;P;P	0.60541	0.828;0.876;0.804	T	0.21793	-1.0235	9	0.62326	D	0.03	.	5.2995	0.15770	0.0:1.0E-4:0.0:0.9999	.	879;891;891	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	N	879;891	ENSP00000340524:K879N;ENSP00000428878:K891N	ENSP00000340524:K879N	K	-	3	2	ZNF721	425583	0.275000	0.24201	0.151000	0.22473	0.126000	0.20510	-0.123000	0.10611	0.440000	0.26502	0.172000	0.16884	AAA	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000357939.1		-	ENST00000338977.5	Missense_Mutation	SNP	4 : 435583 - 435583 G PAAD-TCGA-HZ-8001-Tumor-SM-2RBJY	178	8
