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
ABCB5	340273	broad.mit.edu	37	7	20668330	20668330	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:20668330T>C	ENST00000404938.2	+	4	780	c.128T>C	c.(127-129)cTg>cCg	p.L43P		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	696	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTGATGGACTGGACATCACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	127	135			NA	NA	7		NA											NA				20668330		1568	3582	5150	SO:0001583	missense			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846	340273	340273		ATP binding cassette transporters / subfamily B	46	protein-coding gene	gene with protein product	P-glycoprotein ABCB5, ATP-binding cassette protein	611785			NA	8894702, 12960149	Standard	NM_178559	NM_001163942	NA	Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.128T>C	7.37:g.20668330T>C	ENSP00000384881:p.Leu43Pro	NA	A4D131|B7WPL1|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	8.232	0.804788	0.16467	.	.	ENSG00000004846	ENST00000404938	D	0.87256	-2.23	4.29	4.29	0.51040	.	.	.	.	.	T	0.73984	0.3657	N	0.08118	0	0.80722	D	1	B	0.24768	0.111	B	0.25884	0.064	T	0.70978	-0.4725	9	0.39692	T	0.17	.	10.4067	0.44260	0.0:0.0:0.0:1.0	.	43	A7BKA4	.	P	43	ENSP00000384881:L43P	ENSP00000384881:L43P	L	+	2	0	ABCB5	20634855	1.000000	0.71417	0.931000	0.37212	0.198000	0.23893	3.709000	0.54853	1.892000	0.54788	0.377000	0.23210	CTG	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326736.2		+	ENST00000404938.2	Missense_Mutation	SNP	7 : 20668330 - 20668330 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	146	19
ABCB7	22	broad.mit.edu	37	X	74282184	74282184	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:74282184C>T	ENST00000253577.3	-	14	1941	c.1917G>A	c.(1915-1917)tcG>tcA	p.S639S	ABCB7_ENST00000339447.4_Silent_p.S598S|ABCB7_ENST00000373394.3_Silent_p.S638S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	638	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCGAATCTAACGATGAAGTAG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3835		0,0,1632,571	82	73	76		1917	-0.5	1	X		76	1,6727		0,1,2427,1872	no	coding-synonymous	ABCB7	NM_004299.3		0,1,4059,2443	TT,TC,CC,C	NA	0.0149,0.0,0.0095		639/754	74282184	1,10562	2203	4300	6503	SO:0001819	synonymous_variant			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269	22	22		ATP binding cassette transporters / subfamily B	48	protein-coding gene	gene with protein product		300135		ABC7	NA	9143506	Standard	NM_004299	NM_004299	NA	Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000253577.3:c.1917G>A	X.37:g.74282184C>T		NA	O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	37	CCDS14428.1																																																																																			ABCB7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057273.2		-	ENST00000253577.3	Silent	SNP	X : 74282184 - 74282184 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	278	42
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4	NA								p.L29L(1)			NA						TCAATATGAACTGATCTGTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											58	58	58			NA	NA	3		NA											NA				132319326		2203	4300	6503	SO:0001819	synonymous_variant			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048	51554	51554		GPCR / Class A : Chemokine receptors : Atypical	1611	protein-coding gene	gene with protein product		606065	chemokine (C-C motif) receptor-like 1	CCRL1	NA	10767544, 16148	Standard	NM_016557	NM_016557	NA	Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T		NA		37	CCDS3075.1																																																																																			ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357238.2		+	ENST00000249887.2	Silent	SNP	3 : 132319326 - 132319326 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	273	13
ACVR2A	92	broad.mit.edu	37	2	148657137	148657138	+	Splice_Site	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:148657137_148657138insT	ENST00000241416.7	+	3	1009		c.e3+1		AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Splice_Site|ACVR2A_ENST00000535787.1_Splice_Site	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	NA					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTCACACAGCGTAAGTTCACAG	0.366		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989	92	92			173	protein-coding gene	gene with protein product		102581	activin A receptor, type II	ACVR2	NA	1314589, 10702675	Standard	NM_001616	NM_001278579	NA	Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.373+1->T	2.37:g.148657138_148657138dupT		NA	B2RAB8|D3DP85|Q53TH4|Q6NWV2|Q92474	37	CCDS33301.1																																																																																			ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319051.1	Intron	+	ENST00000241416.7	Splice_Site	INS	2 : 148657137 - 148657138 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	1099	179
ADAMTS5	11096	broad.mit.edu	37	21	28296738	28296738	+	Silent	SNP	G	G	A	rs11911960	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:28296738G>A	ENST00000284987.5	-	8	2548	c.2427C>T	c.(2425-2427)agC>agT	p.S809S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	809	Spacer.				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						GGCTCCAACCGCTATAGTTCA	0.443		NA											G	16	0.01	0.03	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0073	1	LOWCOV,EXOME	NA	NA	4e-04	SNP	Esophageal Squamous(53;683 1080 10100 14424 45938)							NA				0								G		94,4312	76.2+/-114.5	1,92,2110	175	169	171		2427	-9.2	0.1	21	dbSNP_120	171	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	ADAMTS5	NM_007038.3		1,93,6409	AA,AG,GG	NA	0.0116,2.1335,0.7304		809/931	28296738	95,12911	2203	4300	6503	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.2427C>T	21.37:g.28296738G>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 : 28296738 - 28296738 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	916	124
ADNP	23394	broad.mit.edu	37	20	49510803	49510803	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:49510803C>T	ENST00000396029.3	-	5	1015	c.448G>A	c.(448-450)Gat>Aat	p.D150N	ADNP_ENST00000396032.3_Missense_Mutation_p.D150N|ADNP_ENST00000371602.4_Missense_Mutation_p.D150N|ADNP_ENST00000349014.3_Missense_Mutation_p.D150N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTAAGGCCATCATTTTTGTTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	182	184			NA	NA	20		NA											NA				49510803		2203	4300	6503	SO:0001583	missense			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126	23394	23394		Homeoboxes / ZF class	15766	protein-coding gene	gene with protein product	ADNP homeobox 1	611386	activity-dependent neuroprotector		NA	9872452, 11013255	Standard	NM_181442	NM_015339	NA	Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.448G>A	20.37:g.49510803C>T	ENSP00000379346:p.Asp150Asn	NA	E1P5Y2|O94881|Q5BKU2|Q9UG34	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251232	0.39797	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.87	5.87	0.94306	.	0.086182	0.85682	D	0.000000	T	0.59473	0.2196	N	0.19112	0.55	0.48571	D	0.999676	B	0.31318	0.319	B	0.29598	0.104	T	0.55535	-0.8126	10	0.31617	T	0.26	-14.7975	20.206	0.98277	0.0:1.0:0.0:0.0	.	150	Q9H2P0	ADNP_HUMAN	N	150	ENSP00000360662:D150N;ENSP00000342905:D150N;ENSP00000379346:D150N;ENSP00000379349:D150N;ENSP00000436181:D150N	ENSP00000342905:D150N	D	-	1	0	ADNP	48944210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.286000	0.58995	2.785000	0.95823	0.655000	0.94253	GAT	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079705.2		-	ENST00000396029.3	Missense_Mutation	SNP	20 : 49510803 - 49510803 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	1115	134
AMY2A	279	broad.mit.edu	37	1	104160219	104160219	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:104160219G>C	ENST00000414303.2	+	1	221	c.157G>C	c.(157-159)Gga>Cga	p.G53R		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	53					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GAAGGGATTTGGAGGGGTTCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													285	237	253			NA	NA	1		NA											NA				104160219		2201	4279	6480	SO:0001583	missense			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	279	279	3.2.1.1		477	protein-coding gene	gene with protein product		104650	amylase, alpha 2A; pancreatic	AMY2	NA	3260028	Standard	NM_000699	NM_000699	NA	Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.157G>C	1.37:g.104160219G>C	ENSP00000397582:p.Gly53Arg	NA	Q9UBH3	37	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.95|13.95	2.389476|2.389476	0.42410|0.42410	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	D|.	0.98249|.	-4.82|.	3.22|3.22	3.22|3.22	0.36961|0.36961	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);|.	0.049955|.	0.85682|.	D|.	0.000000|.	T|T	0.75613|0.75613	0.3873|0.3873	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.81378|0.81378	-0.0960|-0.0960	10|5	0.87932|.	D|.	0|.	.|.	14.5293|14.5293	0.67912|0.67912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	53;53|.	B9EJG1;P04746|.	.;AMYP_HUMAN|.	R|S	53|51	ENSP00000397582:G53R|.	ENSP00000377509:G53R|.	G|W	+|+	1|2	0|0	AMY2A|AMY2A	103961742|103961742	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.031000|0.031000	0.12232|0.12232	8.935000|8.935000	0.92923|0.92923	1.784000|1.784000	0.52394|0.52394	0.455000|0.455000	0.32223|0.32223	GGA|TGG	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030315.1		+	ENST00000414303.2	Missense_Mutation	SNP	1 : 104160219 - 104160219 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	865	126
APOB	338	broad.mit.edu	37	2	21225669	21225669	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:21225669C>T	ENST00000233242.1	-	29	12752	c.12625G>A	c.(12625-12627)Ggg>Agg	p.G4209R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4209					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTATATCCCAGGTTTCCCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	56	55			NA	NA	2		NA											NA				21225669		2203	4300	6503	SO:0001583	missense			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12625G>A	2.37:g.21225669C>T	ENSP00000233242:p.Gly4209Arg	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947220	0.34377	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00700	5.82	5.99	0.0703	0.14378	.	1.030480	0.07680	N	0.937023	T	0.00724	0.0024	N	0.20986	0.625	0.09310	N	0.999997	B	0.12630	0.006	B	0.09377	0.004	T	0.46638	-0.9177	10	0.12430	T	0.62	.	10.3413	0.43879	0.0:0.5588:0.0:0.4412	.	4209	P04114	APOB_HUMAN	R	4209	ENSP00000233242:G4209R	ENSP00000233242:G4209R	G	-	1	0	APOB	21079174	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.077000	0.11394	-0.278000	0.09180	-0.150000	0.13652	GGG	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Missense_Mutation	SNP	2 : 21225669 - 21225669 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	405	52
APOH	350	broad.mit.edu	37	17	64225477	64225477	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:64225477G>A	ENST00000205948.6	-	1	58	c.21C>T	c.(19-21)atC>atT	p.I7I		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	7					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCGAGAACAAGATGAGCACTG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(155;624 1882 16869 48804 51309)							NA				0													69	63	65			NA	NA	17		NA											NA				64225477		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583	350	350		Apolipoproteins	616	protein-coding gene	gene with protein product	beta-2-glycoprotein I	138700		B2G1	NA	1582254	Standard	NM_000042	NM_000042	NA	Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.21C>T	17.37:g.64225477G>A		NA	B2R9M3|Q9UCN7	37	CCDS11663.1																																																																																			APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446926.1		-	ENST00000205948.6	Silent	SNP	17 : 64225477 - 64225477 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	217	25
ARHGAP6	395	broad.mit.edu	37	X	11157013	11157013	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:11157013G>A	ENST00000337414.4	-	13	3767	c.2895C>T	c.(2893-2895)aaC>aaT	p.N965N	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Silent_p.N762N|ARHGAP6_ENST00000380736.1_Silent_p.N762N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	965					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGCATCGGGGTTGTCGGTCG	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	8	8			NA	NA	X		NA											NA				11157013		2148	4218	6366	SO:0001819	synonymous_variant			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648	395	395		Rho GTPase activating proteins	676	protein-coding gene	gene with protein product		300118			NA	9417914	Standard	NM_013427	XM_005274507	NA	Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2895C>T	X.37:g.11157013G>A		NA	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	37	CCDS14140.1																																																																																			ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055760.2		-	ENST00000337414.4	Silent	SNP	X : 11157013 - 11157013 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	54	6
ATAD3C	219293	broad.mit.edu	37	1	1389850	1389850	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:1389850G>A	ENST00000378785.2	+	4	1343	c.348G>A	c.(346-348)acG>acA	p.T116T		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	116							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGCATCACGGTGCTTGAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	39	34			NA	NA	1		NA											NA				1389850		692	1591	2283	SO:0001819	synonymous_variant			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915	219293	219293		ATPases / AAA-type	32151	protein-coding gene	gene with protein product					NA		Standard	NM_001039211	NM_001039211	NA	Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.348G>A	1.37:g.1389850G>A		NA	Q8N1Z5	37	CCDS44039.1																																																																																			ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001279.3		+	ENST00000378785.2	Silent	SNP	1 : 1389850 - 1389850 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	85	4
C1S	716	broad.mit.edu	37	12	7173836	7173836	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7173836A>G	ENST00000402681.3	+	7	1032	c.385A>G	c.(385-387)Aag>Gag	p.K129E	C1S_ENST00000406697.1_Missense_Mutation_p.K296E|C1S_ENST00000328916.3_Missense_Mutation_p.K296E|C1S_ENST00000360817.5_Missense_Mutation_p.K296E			P09871	C1S_HUMAN	complement component 1, s subcomponent	296	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCCCTGCCCTAAGGAAGACAC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(156;750 1943 12971 24779 31015)							NA				0													95	97	96			NA	NA	12		NA											NA				7173836		2203	4300	6503	SO:0001583	missense				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	716	716	3.4.21.42	Complement system	1247	protein-coding gene	gene with protein product		120580			NA		Standard	NM_001734	NM_201442	NA	Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000402681.3:c.385A>G	12.37:g.7173836A>G	ENSP00000384171:p.Lys129Glu	NA	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	37		.	.	.	.	.	.	.	.	.	.	A	3.314	-0.140144	0.06669	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	D;D;D;D;T	0.84298	-1.78;-1.78;-1.78;-1.83;2.22	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.45361	D	0.000367	T	0.79046	0.4380	M	0.62266	1.93	0.09310	N	1	B	0.23249	0.082	B	0.25987	0.065	T	0.62544	-0.6832	10	0.06757	T	0.87	.	6.8762	0.24149	0.7708:0.1521:0.0771:0.0	.	296	P09871	C1S_HUMAN	E	296;296;296;284;129;129	ENSP00000385035:K296E;ENSP00000328173:K296E;ENSP00000354057:K296E;ENSP00000384171:K129E;ENSP00000442298:K129E	ENSP00000328173:K296E	K	+	1	0	C1S	7044097	0.010000	0.17322	0.152000	0.22495	0.176000	0.22953	1.798000	0.38814	2.124000	0.65301	0.460000	0.39030	AAG	C1S-017	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000401825.1		+	ENST00000402681.3	Missense_Mutation	SNP	12 : 7173836 - 7173836 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	264	38
CACNA1B	774	broad.mit.edu	37	9	140952517	140952517	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140952517G>A	ENST00000371372.1	+	28	4268	c.4123G>A	c.(4123-4125)Gtg>Atg	p.V1375M	CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1375M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1376M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1376M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V571M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1375M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1375					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GAAACACTCCGTGGATGCCAC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	138	142			NA	NA	9		NA											NA				140952517		2011	4194	6205	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4123G>A	9.37:g.140952517G>A	ENSP00000360423:p.Val1375Met	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939034	0.73557	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.33	5.33	0.75918	.	0.120881	0.56097	D	0.000031	D	0.96571	0.8881	N	0.01809	-0.71	0.80722	D	1	B;D;D	0.89917	0.219;1.0;1.0	B;D;D	0.80764	0.052;0.994;0.994	D	0.97604	1.0125	10	0.38643	T	0.18	.	19.4443	0.94840	0.0:0.0:1.0:0.0	.	1375;1376;1375	B1AQK4;B1AQK7;B1AQK6	.;.;.	M	1375;1375;571;1375;1376;1376	ENSP00000360423:V1375M;ENSP00000277551:V1375M;ENSP00000277549:V571M;ENSP00000360414:V1375M;ENSP00000360408:V1376M;ENSP00000360406:V1376M	ENSP00000277549:V571M	V	+	1	0	CACNA1B	140072338	1.000000	0.71417	0.938000	0.37757	0.920000	0.55202	9.725000	0.98778	2.682000	0.91365	0.555000	0.69702	GTG	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 140952517 - 140952517 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	314	40
CADPS	8618	broad.mit.edu	37	3	62535605	62535605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:62535605G>A	ENST00000383710.4	-	11	2288	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	CADPS_ENST00000357948.3_Nonsense_Mutation_p.Q647*|CADPS_ENST00000283269.9_Nonsense_Mutation_p.Q647*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	647					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCATCCAGCTGAGGTACATTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	103			NA	NA	3		NA											NA				62535605		2203	4300	6503	SO:0001587	stop_gained			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618	8618	8618		Pleckstrin homology (PH) domain containing	1426	protein-coding gene	gene with protein product		604667			NA	1516133	Standard	NM_003716, NM_183393, NM_183394	NM_183393	NA	Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1939C>T	3.37:g.62535605G>A	ENSP00000373215:p.Gln647*	NA	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	43	10.157087	0.99349	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	18.2011	0.89838	0.0:0.0:1.0:0.0	.	.	.	.	X	647;647;647;647;142	.	ENSP00000283269:Q647X	Q	-	1	0	CADPS	62510645	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.601000	0.98297	2.612000	0.88384	0.585000	0.79938	CAG	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351951.5		-	ENST00000383710.4	Nonsense_Mutation	SNP	3 : 62535605 - 62535605 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	525	62
CHST8	64377	broad.mit.edu	37	19	34180278	34180278	+	Silent	SNP	C	C	T	rs150945646		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:34180278C>T	ENST00000262622.4	+	2	869	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CHST8_ENST00000434302.1_Silent_p.L37L|CHST8_ENST00000438847.3_Silent_p.L37L|CHST8_ENST00000604556.1_3'UTR	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	NA					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CTACGGAGCTCGCCCCCCAGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4406		0,0,2203	81	82	82		111,111,111	0.5	0.8	19	dbSNP_134	82	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	CHST8	NM_001127895.1,NM_001127896.1,NM_022467.3	,,	0,5,6498	TT,TC,CC	NA	0.0581,0.0,0.0384	,,	37/425,37/425,37/425	34180278	5,13001	2203	4300	6503	SO:0001819	synonymous_variant			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302	64377	64377		Sulfotransferases, membrane-bound	15993	protein-coding gene	gene with protein product		610190			NA	10988300, 11001942	Standard	NM_022467	NM_001127895	NA	Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.111C>T	19.37:g.34180278C>T		NA	Q9H3N2	37	CCDS12433.1																																																																																			CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451453.1		+	ENST00000262622.4	Silent	SNP	19 : 34180278 - 34180278 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	647	60
CLEC18A	348174	broad.mit.edu	37	16	69988323	69988323	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:69988323G>T	ENST00000288040.6	+	3	490	c.303G>T	c.(301-303)tgG>tgT	p.W101C	CLEC18A_ENST00000393701.2_Missense_Mutation_p.W101C|CLEC18A_ENST00000449317.2_Missense_Mutation_p.W101C|CLEC18A_ENST00000568461.1_Missense_Mutation_p.W101C	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	101	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						CCGGCCTGTGGCGCACCCTGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	54	56			NA	NA	16		NA											NA				69988323		2198	4300	6498	SO:0001583	missense			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322	348174	348174		C-type lectin domain containing	30388	protein-coding gene	gene with protein product	mannose receptor-like				NA	12975309	Standard	NM_182619	NM_001136214	NA	Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.303G>T	16.37:g.69988323G>T	ENSP00000288040:p.Trp101Cys	NA	A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	37	CCDS10886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.308|9.308	1.054888|1.054888	0.19907|0.19907	.|.	.|.	ENSG00000157322|ENSG00000157322	ENST00000545150|ENST00000393701;ENST00000539957;ENST00000449317;ENST00000288040	.|T;T;T	.|0.07444	.|3.19;3.19;3.19	1.76|1.76	-1.94|-1.94	0.07571|0.07571	.|CAP domain (3);	.|1.776390	.|0.02581	.|N	.|0.098870	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.50943	.|0.94;0.873;0.846	.|P;P;P	.|0.51701	.|0.677;0.579;0.517	T|T	0.05666|0.05666	-1.0871|-1.0871	5|9	.|.	.|.	.|.	.|.	2.0146|2.0146	0.03495|0.03495	0.3592:0.0:0.3832:0.2576|0.3592:0.0:0.3832:0.2576	.|.	.|101;101;101	.|B4DPF2;A5D8T8;F8W692	.|.;CL18A_HUMAN;.	S|C	100|101	.|ENSP00000377304:W101C;ENSP00000413990:W101C;ENSP00000288040:W101C	.|.	A|W	+|+	1|3	0|0	CLEC18A|CLEC18A	68545824|68545824	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	0.075000|0.075000	0.14686|0.14686	-0.471000|-0.471000	0.06891|0.06891	0.184000|0.184000	0.17185|0.17185	GCG|TGG	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268955.2		+	ENST00000288040.6	Missense_Mutation	SNP	16 : 69988323 - 69988323 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	240	19
COL16A1	1307	broad.mit.edu	37	1	32137235	32137235	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:32137235G>A	ENST00000373672.3	-	48	3647	c.3131C>T	c.(3130-3132)cCg>cTg	p.P1044L	COL16A1_ENST00000271069.6_Missense_Mutation_p.P1044L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1044	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGAGGACCCGGGGAGCCCCT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(143;498 1786 21362 25193 36625)							NA				0								G	LEU/PRO	0,3814		0,0,1907	43	50	48		3131	5.2	1	1		48	2,8232		0,2,4115	no	missense	COL16A1	NM_001856.3	98	0,2,6022	AA,AG,GG	NA	0.0243,0.0,0.0166	probably-damaging	1044/1605	32137235	2,12046	1907	4117	6024	SO:0001583	missense			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636	1307	1307		Collagens	2193	protein-coding gene	gene with protein product		120326			NA	1631157	Standard	NM_001856	NM_001856	NA	Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3131C>T	1.37:g.32137235G>A	ENSP00000362776:p.Pro1044Leu	NA	Q16593|Q59F89|Q71RG9	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217879	0.58560	0.0	2.43E-4	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.94184	-3.37;-3.17	5.21	5.21	0.72293	.	0.218028	0.39834	N	0.001253	D	0.96352	0.8810	M	0.78285	2.405	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96373	0.9275	10	0.62326	D	0.03	.	14.6242	0.68608	0.0:0.0:1.0:0.0	.	1044;1044	Q07092;Q07092-2	COGA1_HUMAN;.	L	1044	ENSP00000362776:P1044L;ENSP00000271069:P1044L	ENSP00000271069:P1044L	P	-	2	0	COL16A1	31909822	1.000000	0.71417	0.957000	0.39632	0.844000	0.47949	3.842000	0.55858	2.599000	0.87857	0.655000	0.94253	CCG	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011057.2		-	ENST00000373672.3	Missense_Mutation	SNP	1 : 32137235 - 32137235 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	199	21
CSAD	51380	broad.mit.edu	37	12	53552313	53552313	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:53552313C>T	ENST00000267085.4	-	17	1778	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	CSAD_ENST00000444623.1_Silent_p.R488R|CSAD_ENST00000379843.3_Silent_p.R341R|CSAD_ENST00000453446.2_Silent_p.R488R|CSAD_ENST00000379846.1_Silent_p.R341R	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	488					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCTGGCCTAGCCGCTCCAGCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(109;252 1546 16882 28524 44645)							NA				0													79	65	70			NA	NA	12		NA											NA				53552313		2203	4300	6503	SO:0001819	synonymous_variant			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631	51380	51380			18966	protein-coding gene	gene with protein product	P-selectin cytoplasmic tail-associated protein				NA	15489334	Standard	NM_015989	NM_015989	NA	Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000267085.4:c.1545G>A	12.37:g.53552313C>T		NA	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	37	CCDS8848.2	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575840	0.13623	.	.	ENSG00000139631	ENST00000379850	.	.	.	4.49	0.356	0.16074	.	.	.	.	.	T	0.45196	0.1330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21075	-1.0256	4	.	.	.	-13.2112	3.9686	0.09443	0.1186:0.5019:0.2319:0.1476	.	.	.	.	T	514	.	.	A	-	1	0	CSAD	51838580	0.762000	0.28451	0.473000	0.27253	0.771000	0.43674	0.028000	0.13644	-0.247000	0.09597	-1.744000	0.00683	GCT	CSAD-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109403.4		-	ENST00000267085.4	Silent	SNP	12 : 53552313 - 53552313 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	263	32
CYP26B1	56603	broad.mit.edu	37	2	72362468	72362468	+	Silent	SNP	G	G	A	rs145145054		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:72362468G>A	ENST00000412253.1	-	0	161				CYP26B1_ENST00000546307.1_Silent_p.R95R|CYP26B1_ENST00000001146.2_Silent_p.R170R			Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	NA					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGCTCCAGGCGCGCAGTGTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		2,4404	4.2+/-10.8	0,2,2201	98	94	95		510	-10.1	0.1	2	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYP26B1	NM_019885.2		0,3,6500	AA,AG,GG	NA	0.0116,0.0454,0.0231		170/513	72362468	3,13003	2203	4300	6503	SO:0001623	5_prime_UTR_variant				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137	56603	56603		Cytochrome P450s	20581	protein-coding gene	gene with protein product		605207			NA	10545224	Standard	NM_019885	NM_019885	NA	Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000412253.1:c.-64C>T	2.37:g.72362468G>A		NA	B2R8M7|Q32MC0|Q53TW1|Q9NP41	37																																																																																				CYP26B1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327529.2		-	ENST00000412253.1	5'UTR	SNP	2 : 72362468 - 72362468 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	497	79
DCAF12L2	340578	broad.mit.edu	37	X	125298663	125298663	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:125298663G>A	ENST00000360028.2	-	1	1271	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	DCAF12L2_ENST00000538699.1_Silent_p.D415D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	415										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCACCCAGACGTCATCTTGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	104	104			NA	NA	X		NA											NA				125298663		2203	4300	6503	SO:0001819	synonymous_variant			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354	340578	340578		WD repeat domain containing	32950	protein-coding gene	gene with protein product			WD repeat domain 40C	WDR40C	NA		Standard	NM_001013628	NM_001013628	NA	Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1245C>T	X.37:g.125298663G>A		NA	B2RN42	37	CCDS43991.1																																																																																			DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058181.1		-	ENST00000360028.2	Silent	SNP	X : 125298663 - 125298663 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	829	131
DCHS1	8642	broad.mit.edu	37	11	6661892	6661892	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:6661892C>T	ENST00000299441.3	-	2	1364	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	318	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGTGGCCGCTCTAACTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	93	95			NA	NA	11		NA											NA				6661892		2201	4296	6497	SO:0001583	missense			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341	8642	8642		Cadherins / Cadherin-related	13681	protein-coding gene	gene with protein product	cadherin-related family member 6	603057	protocadherin 16, dachsous 1 (Drosophila)	CDH25, PCDH16	NA	9199196	Standard	NM_003737	XM_005253207	NA	Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.953G>A	11.37:g.6661892C>T	ENSP00000299441:p.Arg318Gln	NA	O15098	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498727	0.64298	.	.	ENSG00000166341	ENST00000299441	T	0.52295	0.67	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.42964	D	0.000628	T	0.35098	0.0920	L	0.28649	0.875	0.31682	N	0.643017	P	0.47545	0.897	P	0.45343	0.477	T	0.32107	-0.9919	10	0.17832	T	0.49	.	7.5326	0.27691	0.0:0.8152:0.0:0.1848	.	318	Q96JQ0	PCD16_HUMAN	Q	318	ENSP00000299441:R318Q	ENSP00000299441:R318Q	R	-	2	0	DCHS1	6618468	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.706000	0.47135	2.381000	0.81170	0.637000	0.83480	CGG	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257258.1		-	ENST00000299441.3	Missense_Mutation	SNP	11 : 6661892 - 6661892 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	602	83
DCUN1D4	23142	broad.mit.edu	37	4	52779460	52779460	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:52779460C>G	ENST00000334635.5	+	10	905	c.725C>G	c.(724-726)tCa>tGa	p.S242*	DCUN1D4_ENST00000381441.3_Nonsense_Mutation_p.S207*|DCUN1D4_ENST00000451288.2_Nonsense_Mutation_p.S286*|DCUN1D4_ENST00000381437.4_Nonsense_Mutation_p.S182*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	242	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			CATCAGCAATCAAAATACAAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	74	74			NA	NA	4		NA											NA				52779460		2202	4300	6502	SO:0001587	stop_gained			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184	23142	23142			28998	protein-coding gene	gene with protein product		612977	DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)		NA	15988528	Standard	NM_015115	XM_005265731	NA	Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.725C>G	4.37:g.52779460C>G	ENSP00000334625:p.Ser242*	NA	Q7Z3F3|Q7Z6B8	37	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	C	39	7.793471	0.98492	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000451288;ENST00000510808	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-10.8354	19.5352	0.95251	0.0:1.0:0.0:0.0	.	.	.	.	X	242;207;182;286;52	.	ENSP00000334625:S242X	S	+	2	0	DCUN1D4	52474217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.850000	0.98022	0.650000	0.86243	TCA	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250599.2		+	ENST00000334635.5	Nonsense_Mutation	SNP	4 : 52779460 - 52779460 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	180	22
DDX31	64794	broad.mit.edu	37	9	135505739	135505739	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:135505739C>A	ENST00000372159.3	-	16	2009	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	DDX31_ENST00000372153.1_Silent_p.P611P|DDX31_ENST00000438527.3_Missense_Mutation_p.A491S	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	620	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CCAATCCGGGCGGTTCTTCCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	110	108			NA	NA	9		NA											NA				135505739		2203	4300	6503	SO:0001583	missense			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485	64794	64794		DEAD-boxes, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	16715	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 25		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31		NA		Standard	NM_138620	NM_022779	NA	Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1858G>T	9.37:g.135505739C>A	ENSP00000361232:p.Ala620Ser	NA	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576160	0.86645	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000438527	T;T	0.77358	-1.09;-1.09	5.54	5.54	0.83059	Helicase, C-terminal (3);	0.045953	0.85682	D	0.000000	D	0.90280	0.6960	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.87932	D	0	-21.3098	18.551	0.91065	0.0:1.0:0.0:0.0	.	620	Q9H8H2	DDX31_HUMAN	S	620;620;491	ENSP00000361232:A620S;ENSP00000387730:A491S	ENSP00000361228:A620S	A	-	1	0	DDX31	134495560	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	6.339000	0.72969	2.619000	0.88677	0.650000	0.86243	GCC	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054794.1		-	ENST00000372159.3	Missense_Mutation	SNP	9 : 135505739 - 135505739 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	826	90
DNMT1	1786	broad.mit.edu	37	19	10257056	10257056	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:10257056C>T	ENST00000340748.4	-	27	3052	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	DNMT1_ENST00000540357.1_Silent_p.V939V|DNMT1_ENST00000359526.4_Silent_p.V955V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	939					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGGCAGGTACACACCATCAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	61	66			NA	NA	19		NA											NA				10257056		2203	4300	6503	SO:0001819	synonymous_variant			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	1786	1786	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT	NA	1594447	Standard	NM_001379	NM_001379	NA	Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2817G>A	19.37:g.10257056C>T		NA	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	37	CCDS12228.1																																																																																			DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451166.1		-	ENST00000340748.4	Silent	SNP	19 : 10257056 - 10257056 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	245	24
DOCK7	85440	broad.mit.edu	37	1	62954668	62954668	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:62954668A>C	ENST00000340370.5	-	41	5354	c.5337T>G	c.(5335-5337)gaT>gaG	p.D1779E	DOCK7_ENST00000251157.5_Missense_Mutation_p.D1801E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1810	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTTTCTTTGCATCCCGATTAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	141	140			NA	NA	1		NA											NA				62954668		2203	4300	6503	SO:0001583	missense				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641	85440	85440			19190	protein-coding gene	gene with protein product		615730			NA	12432077	Standard	NM_033407	NM_033407	NA	Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5337T>G	1.37:g.62954668A>C	ENSP00000340742:p.Asp1779Glu	NA	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q9C092	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.05|17.05	3.289641|3.289641	0.59976|0.59976	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.05319	.|3.46;3.46	5.74|5.74	0.777|0.777	0.18538|0.18538	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.07908|0.07908	0.0198|0.0198	L|L	0.46885|0.46885	1.475|1.475	0.58432|0.58432	D|D	0.999998|0.999998	.|B;P;P;P;P;P	.|0.51351	.|0.264;0.46;0.944;0.765;0.494;0.627	.|B;B;P;B;B;B	.|0.46659	.|0.171;0.307;0.523;0.441;0.262;0.399	T|T	0.27673|0.27673	-1.0067|-1.0067	5|10	.|0.36615	.|T	.|0.2	.|.	9.7468|9.7468	0.40451|0.40451	0.7365:0.0:0.2635:0.0|0.7365:0.0:0.2635:0.0	.|.	.|1810;1801;1779;1770;1770;1801	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	G|E	973|1810;1801;1779;540	.|ENSP00000251157:D1801E;ENSP00000340742:D1779E	.|ENSP00000251157:D1801E	C|D	-|-	1|3	0|2	DOCK7|DOCK7	62727256|62727256	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.731000|0.731000	0.26058|0.26058	0.120000|0.120000	0.18254|0.18254	0.482000|0.482000	0.46254|0.46254	TGC|GAT	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036806.1		-	ENST00000340370.5	Missense_Mutation	SNP	1 : 62954668 - 62954668 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	311	34
EXD3	54932	broad.mit.edu	37	9	140218269	140218269	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140218269C>T	ENST00000340951.4	-	19	2287	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	EXD3_ENST00000342129.4_Missense_Mutation_p.D349N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	698					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGGAGCAGTCGACCGAGAGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	31	29			NA	NA	9		NA											NA				140218269		2080	4224	6304	SO:0001583	missense				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609	54932	54932			26023	protein-coding gene	gene with protein product					NA		Standard	NM_017820	XM_005266093	NA	Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2092G>A	9.37:g.140218269C>T	ENSP00000340474:p.Asp698Asn	NA	B8A4U7|C9JIQ9|Q2TAK4|Q8N3X4|Q8NHD1|Q96NP1	37	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	3.497	-0.102696	0.06967	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.63417	-0.04;0.62	3.9	1.53	0.23141	.	0.123662	0.53938	D	0.000054	T	0.35307	0.0927	N	0.13235	0.315	0.24060	N	0.996012	P;P	0.46064	0.872;0.87	B;B	0.40134	0.274;0.32	T	0.27191	-1.0081	10	0.14252	T	0.57	.	5.8079	0.18450	0.0:0.6142:0.0:0.3858	.	349;698	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	349;698	ENSP00000343705:D349N;ENSP00000340474:D698N	ENSP00000340474:D698N	D	-	1	0	EXD3	139338090	0.153000	0.22777	0.245000	0.24217	0.031000	0.12232	0.399000	0.20916	0.567000	0.29293	0.305000	0.20034	GAC	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343182.1		-	ENST00000340951.4	Missense_Mutation	SNP	9 : 140218269 - 140218269 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	171	21
FCHSD1	89848	broad.mit.edu	37	5	141028827	141028827	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:141028827G>A	ENST00000522126.1	-	5	396	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	FCHSD1_ENST00000435817.2_Missense_Mutation_p.R142W|FCHSD1_ENST00000519800.1_Missense_Mutation_p.R140W|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R140W			Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	142	FCH.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCTCCCGGACAGACTGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	139	132			NA	NA	5		NA											NA				141028827		2138	4249	6387	SO:0001583	missense			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948	89848	89848			25463	protein-coding gene	gene with protein product					NA	11214971, 15067381	Standard	NM_033449	NM_033449	NA	Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000522126.1:c.196C>T	5.37:g.141028827G>A	ENSP00000427796:p.Arg66Trp	NA	Q6UX75|Q86Y77|Q9NXX8	37		.	.	.	.	.	.	.	.	.	.	G	18.49	3.634995	0.67130	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.11	3.09	0.35607	.	0.154663	0.38436	N	0.001683	T	0.24314	0.0589	L	0.40543	1.245	0.32546	N	0.532998	D	0.76494	0.999	D	0.63793	0.918	T	0.24404	-1.0161	10	0.87932	D	0	-18.4959	11.9792	0.53111	0.0:0.0:0.5971:0.4029	.	142	Q86WN1	FCSD1_HUMAN	W	142;66;140;140	ENSP00000399259:R142W;ENSP00000427796:R66W;ENSP00000428677:R140W;ENSP00000428776:R140W	ENSP00000399259:R142W	R	-	1	2	FCHSD1	141009011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.385000	0.34408	1.129000	0.42072	0.561000	0.74099	CGG	FCHSD1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375286.3		-	ENST00000522126.1	Missense_Mutation	SNP	5 : 141028827 - 141028827 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	815	100
HECW2	57520	broad.mit.edu	37	2	197183345	197183345	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:197183345C>T	ENST00000409111.1	-	7	2215	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	HECW2_ENST00000260983.3_Missense_Mutation_p.E757K			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	757					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCACTGCCTTCTTCTTGCGGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	51	52			NA	NA	2		NA											NA				197183345		2203	4300	6503	SO:0001583	missense			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.1201G>A	2.37:g.197183345C>T	ENSP00000386775:p.Glu401Lys	NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37		.	.	.	.	.	.	.	.	.	.	C	8.519	0.868363	0.17250	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32515	1.45;1.48	4.91	4.91	0.64330	.	1.013590	0.07918	N	0.975412	T	0.22742	0.0549	N	0.19112	0.55	0.33047	D	0.532252	B	0.23316	0.083	B	0.19946	0.027	T	0.04781	-1.0927	10	0.07813	T	0.8	.	16.4632	0.84070	0.0:1.0:0.0:0.0	.	757	Q9P2P5	HECW2_HUMAN	K	401;757	ENSP00000386775:E401K;ENSP00000260983:E757K	ENSP00000260983:E757K	E	-	1	0	HECW2	196891590	1.000000	0.71417	0.057000	0.19452	0.030000	0.12068	5.590000	0.67530	2.558000	0.86282	0.462000	0.41574	GAA	HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	Missense_Mutation	SNP	2 : 197183345 - 197183345 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	308	46
HSP90AB1	3326	broad.mit.edu	37	6	44220861	44220861	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:44220861G>A	ENST00000371554.1	+	11	2025	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	604					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATGGAGCGGATCATGAAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	63	63			NA	NA	6		NA											NA				44220861		2203	4300	6503	SO:0001583	missense			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384	3326	3326		Heat shock proteins / HSPC	5258	protein-coding gene	gene with protein product		140572	heat shock 90kD protein 1, beta, heat shock 90kDa protein 1, beta	HSPC2, HSPCB	NA	2768249, 16269234	Standard	NM_007355	NM_001271969	NA	Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1811G>A	6.37:g.44220861G>A	ENSP00000360609:p.Arg604Gln	NA	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450487	0.96205	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.51574	0.7;0.7;0.7	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000002	T	0.54159	0.1841	M	0.83953	2.67	0.80722	D	1	D;D;D	0.65815	0.995;0.989;0.989	P;P;P	0.50314	0.637;0.637;0.541	T	0.65076	-0.6256	10	0.62326	D	0.03	-11.7731	17.2754	0.87113	0.0:0.0:1.0:0.0	.	566;594;604	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	Q	604	ENSP00000360709:R604Q;ENSP00000325875:R604Q;ENSP00000360609:R604Q	ENSP00000325875:R604Q	R	+	2	0	HSP90AB1	44328839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.816000	0.86201	2.265000	0.75225	0.508000	0.49915	CGG	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040730.1		+	ENST00000371554.1	Missense_Mutation	SNP	6 : 44220861 - 44220861 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	450	12
ISM1	140862	broad.mit.edu	37	20	13260457	13260457	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:13260457C>T	ENST00000262487.4	+	3	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	NA						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GTACCTCAGACGACAGCAACT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,3820		0,0,1910	61	70	67		555	-12.1	0.4	20		67	1,8231		0,1,4115	no	coding-synonymous	ISM1	NM_080826.1		0,1,6025	TT,TC,CC	NA	0.0121,0.0,0.0083		185/465	13260457	1,12051	1910	4116	6026	SO:0001819	synonymous_variant			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230	140862	140862			16213	protein-coding gene	gene with protein product		615793	chromosome 20 open reading frame 82, isthmin 1 homolog (zebrafish)	C20orf82	NA		Standard		NM_080826	NA	Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.555C>T	20.37:g.13260457C>T		NA	Q8WVH9	37	CCDS46579.1																																																																																			ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078039.2		+	ENST00000262487.4	Silent	SNP	20 : 13260457 - 13260457 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	385	39
KCNB1	3745	broad.mit.edu	37	20	47990731	47990731	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:47990731G>A	ENST00000371741.4	-	2	1532	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	456					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAATGCTCCGGGCAAAAGCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	160	165			NA	NA	20		NA											NA				47990731		2203	4300	6503	SO:0001583	missense			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445	3745	3745		Potassium channels, Voltage-gated ion channels / Potassium channels	6231	protein-coding gene	gene with protein product		600397			NA	7774931, 16382104	Standard	NM_004975	NM_004975	NA	Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1366C>T	20.37:g.47990731G>A	ENSP00000360806:p.Arg456Trp	NA	Q14193	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650170	0.67472	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96940	-4.18	5.77	4.81	0.61882	.	0.068374	0.64402	D	0.000015	D	0.97660	0.9233	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98457	1.0594	10	0.72032	D	0.01	.	16.1196	0.81342	0.0:0.0:0.8649:0.135	.	456	Q14721	KCNB1_HUMAN	W	456;411	ENSP00000360806:R456W	ENSP00000360806:R456W	R	-	1	2	KCNB1	47424138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.569000	0.73992	1.552000	0.49463	0.655000	0.94253	CGG	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080374.3		-	ENST00000371741.4	Missense_Mutation	SNP	20 : 47990731 - 47990731 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	820	112
KCNC3	3748	broad.mit.edu	37	19	50823922	50823922	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:50823922G>A	ENST00000376959.2	-	3	2261	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	KCNC3_ENST00000474951.1_Missense_Mutation_p.R16C|KCNC3_ENST00000477616.1_Missense_Mutation_p.R700C|KCNC3_ENST00000391818.2_Silent_p.A36A			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	700					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGCTATAGCGGCCACGGCTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(91;1496 2324 50908)							NA				0													51	45	47			NA	NA	19		NA											NA				50823922		2203	4300	6503	SO:0001583	missense			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398	3748	3748		Potassium channels, Voltage-gated ion channels / Potassium channels	6235	protein-coding gene	gene with protein product		176264	spinocerebellar ataxia 13	SCA13	NA	1740329, 8111118, 16382104	Standard	NM_004977	NM_004977	NA	Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000376959.2:c.2098C>T	19.37:g.50823922G>A	ENSP00000366158:p.Arg700Cys	NA		37		.	.	.	.	.	.	.	.	.	.	G	13.98	2.399766	0.42512	.	.	ENSG00000131398	ENST00000376959;ENST00000474951;ENST00000477616;ENST00000443843	D;D	0.99032	-5.29;-5.35	2.72	2.72	0.32119	.	1.188930	0.06896	U	0.805029	D	0.98454	0.9485	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.71414	0.973;0.876	D	0.95938	0.8944	10	0.87932	D	0	.	9.0178	0.36182	0.0:0.0:1.0:0.0	.	700;700	Q14003;E7ETH1	KCNC3_HUMAN;.	C	700;16;700;514	ENSP00000366158:R700C;ENSP00000434241:R700C	ENSP00000366158:R700C	R	-	1	0	KCNC3	55515734	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.340000	0.52143	1.540000	0.49301	0.460000	0.39030	CGC	KCNC3-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000104026.2		-	ENST00000376959.2	Missense_Mutation	SNP	19 : 50823922 - 50823922 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	225	31
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	102	13
LIN7A	8825	broad.mit.edu	37	12	81242056	81242056	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:81242056C>T	ENST00000552864.1	-	3	449	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	83					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCACGGAATTCGGGACAGCCA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	12		NA											NA				81242056		2203	4300	6503	SO:0001583	missense			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052	8825	8825			17787	protein-coding gene	gene with protein product	mammalian LIN-7 1	603380			NA	10341223, 17237226	Standard		NM_004664	NA	Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.247G>A	12.37:g.81242056C>T	ENSP00000447488:p.Glu83Lys	NA	A4FTY3|Q147W1|Q6LES3|Q7LDS4	37	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762707	0.89932	.	.	ENSG00000111052	ENST00000552864;ENST00000549417	T;T	0.27557	2.18;1.66	5.8	5.8	0.92144	L27, C-terminal (1);PDZ/DHR/GLGF (1);L27 (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	L	0.57536	1.79	0.80722	D	1	D	0.61697	0.99	P	0.55965	0.788	T	0.46289	-0.9202	10	0.87932	D	0	-17.324	20.0637	0.97700	0.0:1.0:0.0:0.0	.	83	O14910	LIN7A_HUMAN	K	83;77	ENSP00000447488:E83K;ENSP00000448975:E77K	ENSP00000261203:E83K	E	-	1	0	LIN7A	79766187	1.000000	0.71417	0.967000	0.41034	0.934000	0.57294	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	GAA	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407760.1		-	ENST00000552864.1	Missense_Mutation	SNP	12 : 81242056 - 81242056 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	189	21
LSM4	25804	broad.mit.edu	37	19	18420597	18420597	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:18420597G>A	ENST00000593829.1	-	4	472	c.219C>T	c.(217-219)gaC>gaT	p.D73D	LSM4_ENST00000252816.6_Silent_p.D59D	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	73					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						CGATGATCTCGTCGGGGATGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	49	52			NA	NA	19		NA											NA				18420597		2203	4300	6503	SO:0001819	synonymous_variant			AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520	25804	25804			17259	protein-coding gene	gene with protein product		607284			NA	10369684, 10523320	Standard		NM_012321	NA	Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.219C>T	19.37:g.18420597G>A		NA		37	CCDS12374.1																																																																																			LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466321.1		-	ENST00000593829.1	Silent	SNP	19 : 18420597 - 18420597 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	231	43
MAN1B1	11253	broad.mit.edu	37	9	139994279	139994279	+	Missense_Mutation	SNP	G	G	A	rs138090529	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:139994279G>A	ENST00000371589.4	+	6	935	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	288					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GTTTGGCCTCGGTCTCACACT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	7,4399	12.9+/-30.5	0,7,2196	204	162	176		862	4.8	1	9	dbSNP_134	176	0,8600		0,0,4300	yes	missense	MAN1B1	NM_016219.3	56	0,7,6496	AA,AG,GG	NA	0.0,0.1589,0.0538	probably-damaging	288/700	139994279	7,12999	2203	4300	6503	SO:0001583	missense			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239	11253	11253			6823	protein-coding gene	gene with protein product	endoplasmic reticulum alpha-mannosidase 1, alpha 1,2-mannosidase, endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1, ER alpha 1,2-mannosidase, Man9GlcNAc2-specific processing alpha-mannosidase	604346			NA	10409699, 10521544	Standard	NM_016219	NM_016219	NA	Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.862G>A	9.37:g.139994279G>A	ENSP00000360645:p.Gly288Ser	NA	Q5VSG3|Q9BRS9|Q9Y5K7	37	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.834053|3.834053	0.71373|0.71373	0.001589|0.001589	0.0|0.0	ENSG00000177239|ENSG00000177239	ENST00000371589|ENST00000535144	T|.	0.73469|.	-0.75|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.73321|0.73321	0.3572|0.3572	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.997;0.997;0.999|.	T|T	0.73603|0.73603	-0.3930|-0.3930	9|5	.|.	.|.	.|.	-24.0316|-24.0316	16.7961|16.7961	0.85602|0.85602	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	189;252;288;189|.	B4DPS9;B4DR05;Q9UKM7;Q68D80|.	.;.;MA1B1_HUMAN;.|.	S|Q	288|261	ENSP00000360645:G288S|.	.|.	G|R	+|+	1|2	0|0	MAN1B1|MAN1B1	139114100|139114100	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.045000|0.045000	0.14185|0.14185	9.492000|9.492000	0.97957|0.97957	2.221000|2.221000	0.72209|0.72209	0.561000|0.561000	0.74099|0.74099	GGT|CGG	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055294.2		+	ENST00000371589.4	Missense_Mutation	SNP	9 : 139994279 - 139994279 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	465	71
MAST3	23031	broad.mit.edu	37	19	18255424	18255424	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:18255424C>T	ENST00000262811.6	+	22	2646	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	NA	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTCCTCCAGCGGTGGCAGTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	45	42			NA	NA	19		NA											NA				18255424		2090	4211	6301	SO:0001819	synonymous_variant			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308	23031	23031			19036	protein-coding gene	gene with protein product		612258			NA		Standard	XM_038150	NM_015016	NA	Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2646C>T	19.37:g.18255424C>T		NA	Q7LDZ8|Q9UPI0	37	CCDS46014.1																																																																																			MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466526.2		+	ENST00000262811.6	Silent	SNP	19 : 18255424 - 18255424 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	248	7
MELK	9833	broad.mit.edu	37	9	36651774	36651774	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:36651774T>G	ENST00000298048.2	+	12	1137	c.953T>G	c.(952-954)cTt>cGt	p.L318R	MELK_ENST00000543751.1_Missense_Mutation_p.L286R|MELK_ENST00000536987.1_Missense_Mutation_p.L187R|MELK_ENST00000545008.1_Missense_Mutation_p.L247R|MELK_ENST00000538311.1_Missense_Mutation_p.L124R|MELK_ENST00000536329.1_Missense_Mutation_p.L247R|MELK_ENST00000536860.1_Missense_Mutation_p.L270R|MELK_ENST00000541717.1_Missense_Mutation_p.L318R	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	318						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GCTACCTATCTTCTGCTTCTA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(82;980 1317 7225 14391 18624)							NA				0													234	232	232			NA	NA	9		NA											NA				36651774		2203	4300	6503	SO:0001583	missense			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304	9833	9833			16870	protein-coding gene	gene with protein product		607025			NA	8724849, 9136115	Standard	NM_014791	NM_001256689	NA	Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.953T>G	9.37:g.36651774T>G	ENSP00000298048:p.Leu318Arg	NA	B1AMQ6|D3DRP8|Q7L3C3	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723067	0.68959	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.73575	-0.56;0.41;0.19;0.72;0.1;-0.76;-0.46;-0.57	5.63	4.45	0.53987	.	0.056841	0.64402	D	0.000001	T	0.80581	0.4650	L	0.57536	1.79	0.58432	D	0.999995	D;D;P;P;D;P;P	0.62365	0.983;0.982;0.746;0.548;0.991;0.923;0.761	D;D;P;B;P;P;B	0.65684	0.937;0.914;0.508;0.328;0.86;0.771;0.21	T	0.81158	-0.1060	10	0.59425	D	0.04	-12.4522	9.0796	0.36542	0.162:0.0:0.0:0.838	.	238;247;270;318;247;286;318	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	R	318;124;187;247;270;247;318;286	ENSP00000298048:L318R;ENSP00000438226:L124R;ENSP00000439184:L187R;ENSP00000445452:L247R;ENSP00000439792:L270R;ENSP00000443550:L247R;ENSP00000437804:L318R;ENSP00000441596:L286R	ENSP00000298048:L318R	L	+	2	0	MELK	36641774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.724000	0.47285	2.145000	0.66743	0.533000	0.62120	CTT	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052428.3		+	ENST00000298048.2	Missense_Mutation	SNP	9 : 36651774 - 36651774 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	1418	27
MFI2	4241	broad.mit.edu	37	3	196736601	196736601	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:196736601C>T	ENST00000296350.5	-	11	1526	c.1413G>A	c.(1411-1413)cgG>cgA	p.R471R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	471	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGCGCTTGCCCCGAAGCTCAT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	3		NA											NA				196736601		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975	4241	4241		CD molecules	7037	protein-coding gene	gene with protein product	melanotransferrin, membrane-bound transferrin-like protein	155750			NA		Standard		NM_033316	NA	Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1413G>A	3.37:g.196736601C>T		NA	Q9BQE2	37	CCDS3325.1																																																																																			MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340458.1		-	ENST00000296350.5	Silent	SNP	3 : 196736601 - 196736601 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	379	47
MTM1	4534	broad.mit.edu	37	X	149839952	149839952	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:149839952G>A	ENST00000370396.2	+	15	1750	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	MTM1_ENST00000413012.2_Missense_Mutation_p.E529K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E451K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	566					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.E566K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTACGCGACGAATACATAAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											117	93	101			NA	NA	X		NA											NA				149839952		2203	4300	6503	SO:0001583	missense			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100	4534	4534		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7448	protein-coding gene	gene with protein product		300415	myotubular myopathy 1		NA		Standard	NM_000252	NM_000252	NA	Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1696G>A	X.37:g.149839952G>A	ENSP00000359423:p.Glu566Lys	NA	A6NDB1|Q8NEL1	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781327	0.31502	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.96011	-3.88;-3.65;-3.85	4.85	4.85	0.62838	.	0.256266	0.40554	N	0.001065	D	0.91690	0.7373	L	0.28400	0.85	0.34666	D	0.723206	B;B	0.31435	0.323;0.323	B;B	0.25884	0.064;0.064	D	0.94029	0.7299	10	0.72032	D	0.01	.	17.4112	0.87486	0.0:0.0:1.0:0.0	.	529;566	B7Z491;Q13496	.;MTM1_HUMAN	K	566;451;529	ENSP00000359423:E566K;ENSP00000439784:E451K;ENSP00000389157:E529K	ENSP00000359423:E566K	E	+	1	0	MTM1	149590610	1.000000	0.71417	0.022000	0.16811	0.059000	0.15707	5.349000	0.66010	2.123000	0.65237	0.600000	0.82982	GAA	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060847.3		+	ENST00000370396.2	Missense_Mutation	SNP	X : 149839952 - 149839952 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	307	42
MUC16	94025	broad.mit.edu	37	19	9026241	9026241	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9026241G>A	ENST00000397910.4	-	14	36948	c.36745C>T	c.(36745-36747)Cgc>Tgc	p.R12249C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12251	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGTGCGACGCATGTCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													244	223	230			NA	NA	19		NA											NA				9026241		2076	4214	6290	SO:0001583	missense			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36745C>T	19.37:g.9026241G>A	ENSP00000381008:p.Arg12249Cys	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.444	0.450006	0.12223	.	.	ENSG00000181143	ENST00000397910	T	0.39056	1.1	2.58	0.112	0.14623	.	.	.	.	.	T	0.29524	0.0736	M	0.71581	2.175	.	.	.	P	0.46277	0.875	B	0.28553	0.091	T	0.39121	-0.9629	8	0.87932	D	0	.	3.3118	0.07020	0.1519:0.0:0.5975:0.2506	.	12249	B5ME49	.	C	12249	ENSP00000381008:R12249C	ENSP00000381008:R12249C	R	-	1	0	MUC16	8887241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.995000	0.01472	0.109000	0.17891	0.195000	0.17529	CGC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9026241 - 9026241 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	728	119
MUC16	94025	broad.mit.edu	37	19	9047967	9047967	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9047967A>G	ENST00000397910.4	-	5	33867	c.33664T>C	c.(33664-33666)Ttt>Ctt	p.F11222L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11224	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATTTGAAAACGCACTGGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	57	60			NA	NA	19		NA											NA				9047967		1906	4106	6012	SO:0001583	missense			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33664T>C	19.37:g.9047967A>G	ENSP00000381008:p.Phe11222Leu	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	8.449	0.852667	0.17106	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	3.15	-6.29	0.02013	.	.	.	.	.	T	0.02533	0.0077	L	0.34521	1.04	.	.	.	B	0.23735	0.09	B	0.30029	0.11	T	0.41752	-0.9491	8	0.87932	D	0	.	5.9379	0.19175	0.2189:0.4934:0.0:0.2877	.	11222	B5ME49	.	L	11222	ENSP00000381008:F11222L	ENSP00000381008:F11222L	F	-	1	0	MUC16	8908967	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.762000	0.04745	-2.422000	0.00563	0.398000	0.26397	TTT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9047967 - 9047967 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	134	13
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:29852959G>A	ENST00000357402.5	+	9	1372	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	MVP_ENST00000395353.1_Missense_Mutation_p.E412K|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	412					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCAGGACGAAGTCCTGTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	24	25			NA	NA	16		NA											NA				29852959		2197	4300	6497	SO:0001583	missense			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364	9961	9961			7531	protein-coding gene	gene with protein product	lung resistance-related protein	605088			NA	7585126	Standard	NM_005115	NM_005115	NA	Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1234G>A	16.37:g.29852959G>A	ENSP00000349977:p.Glu412Lys	NA	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	37	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241347	0.79912	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.14893	2.47;2.47	5.61	5.61	0.85477	.	0.148857	0.64402	D	0.000015	T	0.51500	0.1678	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.61855	-0.6977	10	0.59425	D	0.04	-11.9549	17.1387	0.86747	0.0:0.0:1.0:0.0	.	412	Q14764	MVP_HUMAN	K	412	ENSP00000349977:E412K;ENSP00000378760:E412K	ENSP00000349977:E412K	E	+	1	0	MVP	29760460	1.000000	0.71417	0.731000	0.30826	0.944000	0.59088	7.739000	0.84976	2.627000	0.88993	0.563000	0.77884	GAA	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109711.3		+	ENST00000357402.5	Missense_Mutation	SNP	16 : 29852959 - 29852959 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	100	16
MYBPC1	4604	broad.mit.edu	37	12	102056180	102056180	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:102056180A>G	ENST00000549145.1	+	20	2141	c.2041A>G	c.(2041-2043)Agg>Ggg	p.R681G	MYBPC1_ENST00000551300.1_Missense_Mutation_p.R569G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R655G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R649G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R656G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R642G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R654G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R668G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	668	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAGGTGGATGAGGCTGAATTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	86	87			NA	NA	12		NA											NA				102056180		2203	4300	6503	SO:0001583	missense				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091	4604	4604		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7549	protein-coding gene	gene with protein product		160794	myosin-binding protein C, slow-type		NA	8375400, 16918501	Standard		NM_002465	NA	Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000549145.1:c.2041A>G	12.37:g.102056180A>G	ENSP00000447660:p.Arg681Gly	NA	Q15497|Q569K7|Q8N3L2	37		.	.	.	.	.	.	.	.	.	.	A	19.45	3.829492	0.71258	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.86	3.41	0.39046	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000027	T	0.71341	0.3328	M	0.78223	2.4	0.54753	D	0.999987	D;D;D;D;D;P;D;D;D;D	0.89917	0.991;1.0;0.973;0.996;0.999;0.745;0.995;0.996;0.974;0.995	D;D;D;D;D;P;D;D;D;D	0.91635	0.975;0.999;0.95;0.997;0.997;0.62;0.995;0.998;0.962;0.996	T	0.73707	-0.3898	10	0.87932	D	0	.	12.8782	0.58001	0.6074:0.3926:0.0:0.0	.	649;656;668;668;655;642;668;668;693;693	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	G	642;668;668;668;655;654;693;681;668;693;668;649;656;693;569;668	ENSP00000448175:R642G;ENSP00000400908:R668G;ENSP00000388989:R668G;ENSP00000353822:R668G;ENSP00000376665:R655G;ENSP00000447362:R654G;ENSP00000354845:R693G;ENSP00000447660:R681G;ENSP00000447900:R668G;ENSP00000440034:R668G;ENSP00000446128:R649G;ENSP00000442847:R656G;ENSP00000354849:R693G;ENSP00000447116:R569G;ENSP00000449702:R668G	ENSP00000353822:R668G	R	+	1	2	MYBPC1	100580311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.892000	0.56235	0.509000	0.28195	0.528000	0.53228	AGG	MYBPC1-013	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000408273.2		+	ENST00000549145.1	Missense_Mutation	SNP	12 : 102056180 - 102056180 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	298	35
NCKAP1L	3071	broad.mit.edu	37	12	54929924	54929924	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:54929924C>T	ENST00000293373.6	+	28	3047	c.2968C>T	c.(2968-2970)Cct>Tct	p.P990S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P940S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	990					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TACTTCATCTCCTGAGGAGGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	125	132			NA	NA	12		NA											NA				54929924		2203	4300	6503	SO:0001583	missense			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338	3071	3071			4862	protein-coding gene	gene with protein product		141180	hematopoietic protein 1	HEM1	NA	1932118	Standard	NM_005337	NM_005337	NA	Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2968C>T	12.37:g.54929924C>T	ENSP00000293373:p.Pro990Ser	NA	Q52LW0	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791160	0.31685	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30981	1.51;1.51	4.31	0.435	0.16544	.	0.299519	0.32343	N	0.006238	T	0.15825	0.0381	N	0.17631	0.505	0.33491	D	0.58865	B	0.06786	0.001	B	0.10450	0.005	T	0.20338	-1.0278	10	0.21540	T	0.41	-4.5611	7.885	0.29644	0.0:0.6346:0.0:0.3654	.	990	P55160	NCKPL_HUMAN	S	990;940	ENSP00000293373:P990S;ENSP00000445596:P940S	ENSP00000293373:P990S	P	+	1	0	NCKAP1L	53216191	0.001000	0.12720	0.960000	0.40013	0.751000	0.42716	0.442000	0.21628	-0.017000	0.14103	0.655000	0.94253	CCT	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406195.1		+	ENST00000293373.6	Missense_Mutation	SNP	12 : 54929924 - 54929924 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	425	48
NLGN3	54413	broad.mit.edu	37	X	70367846	70367846	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:70367846C>T	ENST00000374051.3	+	2	569	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	NLGN3_ENST00000536169.1_Missense_Mutation_p.R83C|NLGN3_ENST00000358741.3_Missense_Mutation_p.R83C	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	83					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGGCGAGAAACGTTTCCTGCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(103;760 1488 16849 22250 40351)							NA				0													56	46	50			NA	NA	X		NA											NA				70367846		2203	4298	6501	SO:0001583	missense			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338	54413	54413			14289	protein-coding gene	gene with protein product		300336			NA	10767552, 10819331	Standard	NM_018977	NM_181303	NA	Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000374051.3:c.247C>T	X.37:g.70367846C>T	ENSP00000363163:p.Arg83Cys	NA	D3DVV0|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	37	CCDS14407.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395069	0.62066	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.94915	0.8356	H	0.99425	4.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96501	0.9371	10	0.87932	D	0	.	13.1622	0.59550	0.1595:0.8405:0.0:0.0	.	83;83;83	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	C	83	ENSP00000445298:R83C;ENSP00000363163:R83C;ENSP00000379196:R83C;ENSP00000351591:R83C	ENSP00000351591:R83C	R	+	1	0	NLGN3	70284571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.908000	0.48750	2.044000	0.60594	0.436000	0.28706	CGT	NLGN3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057120.1		+	ENST00000374051.3	Missense_Mutation	SNP	X : 70367846 - 70367846 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	163	26
NOD2	64127	broad.mit.edu	37	16	50745886	50745886	+	Silent	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:50745886C>A	ENST00000300589.2	+	4	2169	c.2064C>A	c.(2062-2064)ggC>ggA	p.G688G		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	688					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCACTGGGGCCTGCTGGCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	34	33			NA	NA	16		NA											NA				50745886		2197	4300	6497	SO:0001819	synonymous_variant			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207	64127	64127		Nucleotide-binding domain and leucine rich repeat containing	5331	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, NOD-like receptor C2, NLR family, CARD domain containing 2	605956	caspase recruitment domain family, member 15	IBD1, CARD15	NA	7809109, 8587604	Standard	NM_022162	XM_005256084	NA	Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2064C>A	16.37:g.50745886C>A		NA	Q96RH5|Q96RH6|Q96RH8	37	CCDS10746.1																																																																																			NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256876.2		+	ENST00000300589.2	Silent	SNP	16 : 50745886 - 50745886 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	267	38
ORC1	4998	broad.mit.edu	37	1	52849599	52849599	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:52849599C>T	ENST00000371568.3	-	12	1984	c.1766G>A	c.(1765-1767)gGc>gAc	p.G589D	ORC1_ENST00000371566.1_Missense_Mutation_p.G589D	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	589	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCTTTTTGGCCTGTTAGCTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	131	136			NA	NA	1		NA											NA				52849599		2203	4300	6503	SO:0001583	missense				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840	4998	4998		ATPases / AAA-type	8487	protein-coding gene	gene with protein product	origin recognition complex, subunit 1, S. cerevisiae, homolog-like, origin recognition complex 1, replication control protein 1	601902	origin recognition complex, subunit 1 (yeast homolog)-like, origin recognition complex, subunit 1-like (yeast), origin recognition complex, subunit 1 homolog (S. cerevisiae)	ORC1L	NA	8884289	Standard	NM_004153	NM_004153	NA	Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1766G>A	1.37:g.52849599C>T	ENSP00000360623:p.Gly589Asp	NA	D3DQ34|Q13471|Q5T0F5	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122368	0.77436	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	D;D	0.93019	-3.15;-3.15	5.84	5.84	0.93424	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.090124	0.85682	D	0.000000	D	0.96253	0.8778	M	0.65498	2.005	0.80722	D	1	D;D	0.63880	0.987;0.993	P;D	0.67382	0.903;0.951	D	0.95707	0.8754	10	0.54805	T	0.06	-14.9556	20.1277	0.97990	0.0:1.0:0.0:0.0	.	584;589	B7Z8H0;Q13415	.;ORC1_HUMAN	D	589	ENSP00000360623:G589D;ENSP00000360621:G589D	ENSP00000360621:G589D	G	-	2	0	ORC1	52622187	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.460000	0.60108	2.755000	0.94549	0.563000	0.77884	GGC	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022202.1		-	ENST00000371568.3	Missense_Mutation	SNP	1 : 52849599 - 52849599 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	300	29
PINK1	65018	broad.mit.edu	37	1	20964418	20964418	+	Silent	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:20964418G>C	ENST00000321556.4	+	2	565	c.471G>C	c.(469-471)ctG>ctC	p.L157L		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	157	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAGTATCTGATAGGGCAGT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(145;853 1803 8146 34412 35011)							NA				0													80	85	83			NA	NA	1		NA											NA				20964418		2203	4300	6503	SO:0001819	synonymous_variant			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828	65018	65018		Parkinson disease	14581	protein-coding gene	gene with protein product		608309	Parkinson disease (autosomal recessive) 6	PARK6	NA	11494141, 15349860	Standard	NM_032409	NM_032409	NA	Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.471G>C	1.37:g.20964418G>C		NA	Q8N6T9|Q8NBU3|Q96DE4	37	CCDS211.1																																																																																			PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007954.1		+	ENST00000321556.4	Silent	SNP	1 : 20964418 - 20964418 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	429	57
PLCH2	9651	broad.mit.edu	37	1	2418364	2418364	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:2418364G>A	ENST00000449969.1	+	6	915	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PLCH2_ENST00000378486.3_Missense_Mutation_p.E279K|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.E279K|PLCH2_ENST00000378488.3_Missense_Mutation_p.E279K			O75038	PLCH2_HUMAN	phospholipase C, eta 2	279					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGTGACCCTCGAGAGCTGCCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	52			NA	NA	1		NA											NA				2418364		2121	4240	6361	SO:0001583	missense			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	9651	9651	3.1.4.11	EF-hand domain containing	29037	protein-coding gene	gene with protein product		612836	phospholipase C-like 4	PLCL4	NA	15899900	Standard	NM_014638	XM_006711054	NA	Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000449969.1:c.754G>A	1.37:g.2418364G>A	ENSP00000397289:p.Glu252Lys	NA	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	37		.	.	.	.	.	.	.	.	.	.	G	15.95	2.983526	0.53827	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.19938	2.11;2.11;2.11	3.87	3.87	0.44632	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.120124	0.56097	D	0.000039	T	0.42787	0.1218	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.69078	0.995;0.997;0.942;0.991	P;D;P;P	0.67548	0.869;0.952;0.563;0.876	T	0.34329	-0.9833	10	0.37606	T	0.19	.	14.9819	0.71316	0.0:0.0:1.0:0.0	.	126;67;252;279	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	K	252;279;279;126;67	ENSP00000397289:E252K;ENSP00000367747:E279K;ENSP00000367749:E279K	ENSP00000278878:E67K	E	+	1	0	PLCH2	2408224	1.000000	0.71417	0.844000	0.33320	0.547000	0.35210	6.280000	0.72626	2.006000	0.58801	0.561000	0.74099	GAG	PLCH2-008	KNOWN	non_canonical_conserved|basic	protein_coding	NA	protein_coding	OTTHUMT00000001798.2		+	ENST00000449969.1	Missense_Mutation	SNP	1 : 2418364 - 2418364 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	80	11
PLTP	5360	broad.mit.edu	37	20	44539794	44539794	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:44539794G>C	ENST00000477313.1	-	2	791	c.197C>G	c.(196-198)tCt>tGt	p.S66C	PLTP_ENST00000372431.3_Missense_Mutation_p.S66C|PLTP_ENST00000542937.1_Missense_Mutation_p.S86C|PLTP_ENST00000420868.2_Missense_Mutation_p.S66C|PLTP_ENST00000354050.4_Missense_Mutation_p.S66C			P55058	PLTP_HUMAN	phospholipid transfer protein	66					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CACTTACTCAGAGATGTTGTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	75	73			NA	NA	20		NA											NA				44539794		2203	4300	6503	SO:0001583	missense			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979	5360	5360		BPI fold containing	9093	protein-coding gene	gene with protein product	BPI fold containing family E	172425			NA		Standard	NM_006227	NM_006227	NA	Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.197C>G	20.37:g.44539794G>C	ENSP00000417138:p.Ser66Cys	NA	A8K006|E1P5N8|Q8WTT1|Q9BR07|Q9BSH8	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886362	0.72410	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.41	5.07	5.07	0.68467	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.208418	0.48767	D	0.000178	T	0.24275	0.0588	M	0.64997	1.995	0.49687	D	0.999818	D;D;D;D;D;D	0.76494	0.994;0.997;0.999;0.999;0.999;0.999	P;P;D;D;D;D	0.70227	0.819;0.819;0.968;0.946;0.968;0.968	T	0.00086	-1.2094	10	0.62326	D	0.03	.	12.8555	0.57882	0.0:0.2974:0.7026:0.0	.	66;66;66;66;66;86	E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	C	66;66;66;86;66	ENSP00000361508:S66C;ENSP00000335290:S66C;ENSP00000417138:S66C;ENSP00000440296:S86C;ENSP00000411671:S66C	ENSP00000335290:S66C	S	-	2	0	PLTP	43973201	0.997000	0.39634	0.964000	0.40570	0.993000	0.82548	2.708000	0.47152	2.636000	0.89361	0.467000	0.42956	TCT	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354633.1		-	ENST00000477313.1	Missense_Mutation	SNP	20 : 44539794 - 44539794 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	582	78
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	G	A	rs150952802		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:43766196G>A	ENST00000244293.7	-	3	591	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Silent_p.D175D|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Silent_p.D175D			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	238	241			NA	NA	19		NA											NA				43766196		2203	4300	6503	SO:0001819	synonymous_variant			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668	5678	5678		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9526	protein-coding gene	gene with protein product		176398		PSG11	NA	7806221	Standard	NM_002784	XM_005259076	NA	Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000244293.7:c.525C>T	19.37:g.43766196G>A		NA	B2R869|Q15236|Q15237|Q8WW78|Q9UQ73	37																																																																																				PSG9-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000323066.1		-	ENST00000244293.7	Silent	SNP	19 : 43766196 - 43766196 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	1399	779
PTGR2	145482	broad.mit.edu	37	14	74345810	74345810	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:74345810C>G	ENST00000555661.1	+	6	676	c.531C>G	c.(529-531)ttC>ttG	p.F177L	RP5-1021I20.4_ENST00000556551.2_Intron|PTGR2_ENST00000267568.4_Missense_Mutation_p.F177L|PTGR2_ENST00000553813.1_Missense_Mutation_p.F43L|PTGR2_ENST00000555228.1_Missense_Mutation_p.F177L			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	177					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						TTGGCCATTTCTTAGGTTGTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(98;1155 1417 16452 47043 47872)							NA				0													121	116	118			NA	NA	14		NA											NA				74345810		2203	4300	6503	SO:0001583	missense			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043	145482	145482			20149	protein-coding gene	gene with protein product		608642	zinc binding alcohol dehydrogenase domain containing 1	ZADH1	NA	17449869	Standard		NM_152444	NA	Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.531C>G	14.37:g.74345810C>G	ENSP00000452280:p.Phe177Leu	NA	Q3L8A4|Q6MZH8	37	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	C	5.605	0.296449	0.10622	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.03745	3.82;3.82;3.82;3.82;3.82	5.52	2.76	0.32466	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.256361	0.35870	N	0.002939	T	0.00468	0.0015	N	0.00006	-3.25	0.25447	N	0.988045	B	0.02656	0.0	B	0.01281	0.0	T	0.42666	-0.9438	10	0.02654	T	1	-0.5166	4.2981	0.10911	0.1348:0.1253:0.611:0.1289	.	177	Q8N8N7	PTGR2_HUMAN	L	177;177;177;128;43	ENSP00000450975:F177L;ENSP00000452280:F177L;ENSP00000267568:F177L;ENSP00000451158:F128L;ENSP00000450824:F43L	ENSP00000267568:F177L	F	+	3	2	RP5-1021I20.4;PTGR2	73415563	1.000000	0.71417	0.870000	0.34147	0.622000	0.37654	2.944000	0.49034	0.311000	0.23014	-0.759000	0.03464	TTC	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412575.1		+	ENST00000555661.1	Missense_Mutation	SNP	14 : 74345810 - 74345810 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	624	74
PTPN6	5777	broad.mit.edu	37	12	7061156	7061156	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061156C>G	ENST00000318974.9	+	3	386	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	PTPN6_ENST00000399448.1_Missense_Mutation_p.Q50E|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q48E|PTPN6_ENST00000447931.2_Missense_Mutation_p.Q9E	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	48	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGTGGGGGATCAGGTGACCCA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	63	60			NA	NA	12		NA											NA				7061156		2149	4276	6425	SO:0001583	missense				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679	5777	5777		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor, SH2 domain containing	9658	protein-coding gene	gene with protein product		176883			NA	1639416	Standard	NM_002831	NM_080548	NA	Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.142C>G	12.37:g.7061156C>G	ENSP00000326010:p.Gln48Glu	NA	A8K306|Q969V8	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	1.112	-0.657924	0.03454	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96365	-2.33;-2.33;-3.99;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.75	3.85	0.44370	SH2 motif (5);	0.577535	0.17289	N	0.179712	T	0.82125	0.4969	N	0.00560	-1.38	0.09310	N	0.999992	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.72994	-0.4122	10	0.02654	T	1	.	8.6522	0.34042	0.0:0.766:0.1536:0.0804	.	36;9;48;48;50	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	E	69;50;9;48;48;48;48;48;7	ENSP00000443393:Q69E;ENSP00000382376:Q50E;ENSP00000415979:Q9E;ENSP00000438740:Q48E;ENSP00000326010:Q48E;ENSP00000391592:Q48E;ENSP00000444337:Q48E;ENSP00000445646:Q48E;ENSP00000440114:Q7E	ENSP00000326010:Q48E	Q	+	1	0	PTPN6	6931417	0.632000	0.27172	0.990000	0.47175	0.986000	0.74619	1.392000	0.34486	0.981000	0.38548	0.561000	0.74099	CAG	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400023.1		+	ENST00000318974.9	Missense_Mutation	SNP	12 : 7061156 - 7061156 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	188	17
PTPN6	5777	broad.mit.edu	37	12	7061302	7061302	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061302C>T	ENST00000318974.9	+	3	532	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PTPN6_ENST00000399448.1_Silent_p.L98L|PTPN6_ENST00000456013.1_Silent_p.L96L|PTPN6_ENST00000447931.2_Silent_p.L57L	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	96	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCATCCACCTCAAGTACCCGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	112	107			NA	NA	12		NA											NA				7061302		2193	4285	6478	SO:0001819	synonymous_variant				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679	5777	5777		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor, SH2 domain containing	9658	protein-coding gene	gene with protein product		176883			NA	1639416	Standard	NM_002831	NM_080548	NA	Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.288C>T	12.37:g.7061302C>T		NA	A8K306|Q969V8	37	CCDS44820.1																																																																																			PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400023.1		+	ENST00000318974.9	Silent	SNP	12 : 7061302 - 7061302 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	501	64
RBBP7	5931	broad.mit.edu	37	X	16876907	16876907	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:16876907C>T	ENST00000380084.4	-	4	749	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	RBBP7_ENST00000404022.1_Missense_Mutation_p.E116K|RBBP7_ENST00000380087.2_Missense_Mutation_p.E125K	NM_001198719.1	NP_001185648.1	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	125					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CGGTTTACTTCTCCTTCGTGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	185	202			NA	NA	X		NA											NA				16876907		2203	4300	6503	SO:0001583	missense			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054	5931	5931		WD repeat domain containing	9890	protein-coding gene	gene with protein product	G1/S transition control protein-binding protein RbAp46, retinoblastoma-binding protein 7, retinoblastoma-binding protein RbAp46, histone acetyltransferase type B subunit 2, retinoblastoma-binding protein p46	300825	retinoblastoma-binding protein 7		NA	7503932	Standard	NM_002893	NM_002893	NA	Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380084.4:c.505G>A	X.37:g.16876907C>T	ENSP00000369424:p.Glu169Lys	NA		37	CCDS56598.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395799	0.96009	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000416035	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.01	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85762	0.5772	H	0.96720	3.87	0.80722	D	1	P;D;D	0.76494	0.932;0.999;0.976	P;D;P	0.68765	0.631;0.96;0.494	D	0.90904	0.4771	10	0.87932	D	0	-0.0253	16.9044	0.86122	0.0:1.0:0.0:0.0	.	116;125;169	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	K	125;169;116;45	ENSP00000369427:E125K;ENSP00000369424:E169K;ENSP00000386068:E116K;ENSP00000392714:E45K	ENSP00000369424:E169K	E	-	1	0	RBBP7	16786828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.286000	0.76751	0.594000	0.82650	GAA	RBBP7-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055922.2		-	ENST00000380084.4	Missense_Mutation	SNP	X : 16876907 - 16876907 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	512	70
SCN1A	6323	broad.mit.edu	37	2	166904211	166904211	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:166904211C>G	ENST00000409050.1	-	8	1095	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.D366H|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.D366H|SCN1A_ENST00000375405.3_Missense_Mutation_p.D366H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	366			D -> E (in SMEI; dbSNP:rs121917958).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTGAAGGTATCAAAGCTTGTG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	109	109			NA	NA	2		NA											NA				166904211		2203	4300	6503	SO:0001583	missense			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.1096G>C	2.37:g.166904211C>G	ENSP00000386312:p.Asp366His	NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006572	0.74932	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.99149	0.9706	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.97110	0.789;1.0;0.998	D	0.98988	1.0807	10	0.87932	D	0	.	18.6483	0.91419	0.0:1.0:0.0:0.0	.	366;366;366	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	H	366	ENSP00000407030:D366H;ENSP00000303540:D366H;ENSP00000364554:D366H;ENSP00000386312:D366H	ENSP00000303540:D366H	D	-	1	0	SCN1A	166612457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.773000	0.85462	2.492000	0.84095	0.655000	0.94253	GAT	SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1		-	ENST00000409050.1	Missense_Mutation	SNP	2 : 166904211 - 166904211 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	596	73
SEC22C	9117	broad.mit.edu	37	3	42590112	42590112	+	Missense_Mutation	SNP	G	G	A	rs145549289	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:42590112G>A	ENST00000273156.7	-	7	958	c.749C>T	c.(748-750)tCg>tTg	p.S250L	SEC22C_ENST00000423701.2_Missense_Mutation_p.S228L|SEC22C_ENST00000536332.1_Missense_Mutation_p.S180L|SEC22C_ENST00000417572.1_Missense_Mutation_p.S250L	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	0					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GCTGGCTCACGAGGTTTGGTC	0.547		NA											G	2	9e-04	NA	NA	2184	0.0035	1	,	,	NA	2e-04	NA	NA	NA	9e-04	0.9756	LOWCOV,EXOME	NA	NA	0.0014	SNP								NA				0													91	81	84			NA	NA	3		NA											NA				42590112		2203	4300	6503	SO:0001583	missense			AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183	9117	9117			16828	protein-coding gene	gene with protein product		604028	SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)	SEC22L3	NA	9501016, 11001058	Standard	NM_004206	NM_004206	NA	Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000273156.7:c.749C>T	3.37:g.42590112G>A	ENSP00000273156:p.Ser250Leu	NA	O95152|Q68CX3|Q6UW18	37	CCDS2699.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	15.00	2.702337	0.48307	.	.	ENSG00000093183	ENST00000423701;ENST00000273156;ENST00000417572;ENST00000536332	T;T;T;T	0.24151	2.23;2.22;2.22;1.87	3.71	-4.25	0.03766	.	.	.	.	.	T	0.14098	0.0341	N	0.22421	0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.27872	-1.0061	9	0.87932	D	0	.	5.8941	0.18929	0.5888:0.0:0.2683:0.143	.	180;228;250	F5H0H7;Q9BRL7-3;Q9BRL7-2	.;.;.	L	228;250;250;180	ENSP00000414576:S228L;ENSP00000273156:S250L;ENSP00000407564:S250L;ENSP00000439845:S180L	ENSP00000273156:S250L	S	-	2	0	SEC22C	42565116	0.017000	0.18338	0.000000	0.03702	0.029000	0.11900	0.171000	0.16685	-1.089000	0.03073	-0.182000	0.12963	TCG	SEC22C-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254733.1		-	ENST00000273156.7	Missense_Mutation	SNP	3 : 42590112 - 42590112 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	275	33
SLC26A10	65012	broad.mit.edu	37	12	58019519	58019519	+	Silent	SNP	C	C	T	rs145592443		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:58019519C>T	ENST00000320442.4	+	14	1994	c.1683C>T	c.(1681-1683)tgC>tgT	p.C561C	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	561						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CACTGGGCTGCGGCAAGTGAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	33	36	35		1683	-2.1	0	12	dbSNP_134	35	2,8598		0,2,4298	no	coding-synonymous	SLC26A10	NM_133489.2		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		561/564	58019519	2,13004	2203	4300	6503	SO:0001819	synonymous_variant				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502	65012	65012		Solute carriers	14470	protein-coding gene	gene with protein product					NA		Standard		NM_133489	NA	Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1683C>T	12.37:g.58019519C>T		NA	A6NMJ2|B6ZDQ3|Q6ZWI7	37	CCDS8949.2																																																																																			SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250311.2		+	ENST00000320442.4	Silent	SNP	12 : 58019519 - 58019519 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	317	46
SLC4A1	6521	broad.mit.edu	37	17	42330701	42330701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:42330701delC	ENST00000262418.6	-	17	2251	c.2096delG	c.(2095-2097)ggcfs	p.G699fs		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	699	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAAGCCGGAGCCCTTGACCAT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	84			NA	NA	17		NA											NA				42330701		2203	4300	6503	SO:0001589	frameshift_variant				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939	6521	6521		CD molecules, Blood group antigens, Solute carriers	11027	protein-coding gene	gene with protein product	Froese blood group, Swann blood group, Wright blood group	109270	Waldner blood group, erythrocyte membrane protein band 3, Diego blood group, solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group), solute carrier family 4 (anion exchanger), member 1	EPB3, AE1, DI, WD	NA	8434259	Standard	NM_000342	NM_000342	NA	Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2096delG	17.37:g.42330701delC	ENSP00000262418:p.Gly699fs	NA	P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	37	CCDS11481.1																																																																																			SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346194.1		-	ENST00000262418.6	Frame_Shift_Del	DEL	17 : 42330701 - 42330701 - PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	297	47
SOX17	64321	broad.mit.edu	37	8	55372342	55372342	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:55372342C>T	ENST00000297316.4	+	2	1236	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	344	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCTGCCGGGACGGCACGGACC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	19	18			NA	NA	8		NA											NA				55372342		2198	4296	6494	SO:0001819	synonymous_variant			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736	64321	64321		SRY (sex determining region Y)-boxes	18122	protein-coding gene	gene with protein product		610928			NA	11786926	Standard		NM_022454	NA	Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1032C>T	8.37:g.55372342C>T		NA		37	CCDS6159.1																																																																																			SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378526.2		+	ENST00000297316.4	Silent	SNP	8 : 55372342 - 55372342 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	78	13
SPOP	8405	broad.mit.edu	37	17	47677787	47677787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:47677787G>A	ENST00000393328.2	-	11	1443	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	SPOP_ENST00000504102.1_Nonsense_Mutation_p.Q360*|SPOP_ENST00000393331.3_Nonsense_Mutation_p.Q360*|SPOP_ENST00000347630.2_Nonsense_Mutation_p.Q360*|SPOP_ENST00000503676.1_Nonsense_Mutation_p.Q360*	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	360					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AAAGGGCACTGTGCTGAAGCC	0.527		NA								Prostate(2;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	165	164			NA	NA	17		NA											NA				47677787		2203	4300	6503	SO:0001587	stop_gained			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067	8405	8405		BTB/POZ domain containing	11254	protein-coding gene	gene with protein product		602650			NA	9414087	Standard	NM_003563	NM_001007227	NA	Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.1078C>T	17.37:g.47677787G>A	ENSP00000377001:p.Gln360*	NA	B2R6S3|D3DTW7|Q53HJ1	37	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	40	8.243401	0.98722	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.4971	19.5069	0.95121	0.0:0.0:1.0:0.0	.	.	.	.	X	360;360;360;360;244;360;313	.	ENSP00000240327:Q360X	Q	-	1	0	SPOP	45032786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	CAG	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365154.2		-	ENST00000393328.2	Nonsense_Mutation	SNP	17 : 47677787 - 47677787 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	1162	165
STK31	56164	broad.mit.edu	37	7	23826539	23826539	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:23826539C>T	ENST00000354639.3	+	20	2878	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	STK31_ENST00000355870.3_Missense_Mutation_p.S828L|STK31_ENST00000428484.1_Missense_Mutation_p.S805L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.S828L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	828	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTTTAAATTCAGAAGTAAGT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	136	139			NA	NA	7		NA											NA				23826539		2203	4300	6503	SO:0001583	missense			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335	56164	56164		Tudor domain containing	11407	protein-coding gene	gene with protein product		605790			NA	11279525	Standard	NM_031414	NM_031414	NA	Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000354639.3:c.2414C>T	7.37:g.23826539C>T	ENSP00000346660:p.Ser805Leu	NA	B7WPP5|Q6PCD3|Q9BXH8	37	CCDS43556.1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.366888	0.05069	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.72051	-0.62;2.32;-0.62;-0.62	5.45	3.65	0.41850	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.330943	0.28659	N	0.014566	T	0.46171	0.1379	N	0.05574	-0.02	0.34125	D	0.664527	B;B	0.18461	0.012;0.028	B;B	0.19946	0.016;0.027	T	0.45948	-0.9226	10	0.10111	T	0.7	-0.3709	10.3969	0.44207	0.0:0.7807:0.0:0.2193	.	828;828	B4DZ06;Q9BXU1	.;STK31_HUMAN	L	828;828;805;805	ENSP00000348132:S828L;ENSP00000411852:S828L;ENSP00000346660:S805L;ENSP00000406146:S805L	ENSP00000346660:S805L	S	+	2	0	STK31	23793064	1.000000	0.71417	0.998000	0.56505	0.003000	0.03518	1.847000	0.39299	0.684000	0.31448	-0.225000	0.12378	TCA	STK31-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326723.1		+	ENST00000354639.3	Missense_Mutation	SNP	7 : 23826539 - 23826539 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	567	68
TCTEX1D1	200132	broad.mit.edu	37	1	67242967	67242967	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:67242967C>T	ENST00000282670.2	+	5	498	c.370C>T	c.(370-372)Cca>Tca	p.P124S		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	124										large_intestine(2)|lung(10)|skin(1)	13						CTTGATGATTCCACGGTATAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	122	121			NA	NA	1		NA											NA				67242967		2203	4300	6503	SO:0001583	missense			AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760	200132	200132			26882	protein-coding gene	gene with protein product					NA		Standard	NM_152665	NM_152665	NA	Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.370C>T	1.37:g.67242967C>T	ENSP00000282670:p.Pro124Ser	NA	Q06YR9|Q5VYE1	37	CCDS633.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582064	0.46006	.	.	ENSG00000152760	ENST00000282670	T	0.31247	1.5	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	M	0.75264	2.295	0.80722	D	1	P	0.42123	0.771	P	0.48334	0.574	T	0.10154	-1.0642	10	0.44086	T	0.13	-5.2119	19.7289	0.96175	0.0:1.0:0.0:0.0	.	124	Q8N7M0	TC1D1_HUMAN	S	124	ENSP00000282670:P124S	ENSP00000282670:P124S	P	+	1	0	TCTEX1D1	67015555	1.000000	0.71417	0.977000	0.42913	0.029000	0.11900	5.357000	0.66058	2.770000	0.95276	0.655000	0.94253	CCA	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025399.2		+	ENST00000282670.2	Missense_Mutation	SNP	1 : 67242967 - 67242967 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	662	81
THEMIS2	9473	broad.mit.edu	37	1	28208522	28208522	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:28208522C>T	ENST00000373921.3	+	4	691	c.687C>T	c.(685-687)gtC>gtT	p.V229V	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.V229V|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2	NA											NA						CCCTGGAGGTCGACGTGGAGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4250		0,0,2125	61	63	62		,687,	-10.6	0.3	1		62	1,8497		0,1,4248	no	intron,coding-synonymous,intron	C1orf38	NM_001039477.1,NM_001105556.1,NM_004848.2	,,	0,1,6373	TT,TC,CC	NA	0.0118,0.0,0.0078	,,	,229/644,	28208522	1,12747	2125	4249	6374	SO:0001819	synonymous_variant			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775	9473	9473			16839	protein-coding gene	gene with protein product	induced by contact to basement membrane 1		chromosome 1 open reading frame 38	C1orf38	NA	16219472	Standard	NM_004848	XM_005246041	NA	Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.687C>T	1.37:g.28208522C>T		NA		37	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	8.758	0.922900	0.18056	0.0	1.18E-4	ENSG00000130775	ENST00000456990	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51076	-0.8751	4	.	.	.	-29.2019	6.2664	0.20930	0.0721:0.1157:0.4306:0.3816	.	.	.	.	L	122	.	.	S	+	2	0	C1orf38	28081109	0.156000	0.22821	0.320000	0.25306	0.927000	0.56198	-0.685000	0.05167	-1.767000	0.01300	0.561000	0.74099	TCG	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011148.1		+	ENST00000373921.3	Silent	SNP	1 : 28208522 - 28208522 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	328	28
THOC5	8563	broad.mit.edu	37	22	29913325	29913325	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:29913325C>A	ENST00000490103.1	-	16	1642	c.1520G>T	c.(1519-1521)tGc>tTc	p.C507F	THOC5_ENST00000397873.2_Missense_Mutation_p.C507F|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Missense_Mutation_p.C507F|THOC5_ENST00000397871.1_Missense_Mutation_p.C507F	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	507					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGTACTGGCAATCACTGGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	100	108			NA	NA	22		NA											NA				29913325		2203	4300	6503	SO:0001583	missense			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296	8563	8563		THO complex subunits	19074	protein-coding gene	gene with protein product	functional spliceosome-associated protein 79	612733	chromosome 22 open reading frame 19	C22orf19	NA	11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678	NM_003678	NA	Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1520G>T	22.37:g.29913325C>A	ENSP00000420306:p.Cys507Phe	NA	O60839|Q9UPZ5	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760500	0.89932	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	M	0.65975	2.015	0.80722	D	1	D	0.55605	0.972	P	0.47528	0.549	T	0.19943	-1.0290	10	0.56958	D	0.05	-28.072	19.6653	0.95890	0.0:1.0:0.0:0.0	.	507	Q13769	THOC5_HUMAN	F	507	ENSP00000420306:C507F;ENSP00000380970:C507F;ENSP00000380969:C507F;ENSP00000380971:C507F	ENSP00000380969:C507F	C	-	2	0	THOC5	28243325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.792000	0.69052	2.733000	0.93635	0.655000	0.94253	TGC	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322097.1		-	ENST00000490103.1	Missense_Mutation	SNP	22 : 29913325 - 29913325 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	176	22
THSD7B	80731	broad.mit.edu	37	2	138208441	138208441	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:138208441C>T	ENST00000409968.1	+	15	3164	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S	THSD7B_ENST00000272643.3_Missense_Mutation_p.P996S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P965S|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B	NA										NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTGTCATTCCCTGCCCATT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	104	106			NA	NA	2		NA											NA				138208441		1844	4108	5952	SO:0001583	missense					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229	80731	80731			29348	protein-coding gene	gene with protein product					NA	11214970	Standard	XM_046570.9	NM_001080427	NA	Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2986C>T	2.37:g.138208441C>T	ENSP00000387145:p.Pro996Ser	NA		37		.	.	.	.	.	.	.	.	.	.	C	19.22	3.784951	0.70222	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62232	2.24;0.04;0.04	5.83	5.83	0.93111	.	0.056119	0.64402	N	0.000001	T	0.78272	0.4257	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74668	-0.3588	10	0.38643	T	0.18	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	965	C9JKN6	.	S	996;996;965	ENSP00000387145:P996S;ENSP00000272643:P996S;ENSP00000413841:P965S	ENSP00000272643:P996S	P	+	1	0	THSD7B	137924911	1.000000	0.71417	0.951000	0.38953	0.314000	0.28054	4.906000	0.63293	2.776000	0.95493	0.650000	0.86243	CCC	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000331769.2		+	ENST00000409968.1	Missense_Mutation	SNP	2 : 138208441 - 138208441 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	214	34
TM7SF3	51768	broad.mit.edu	37	12	27149763	27149763	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:27149763C>T	ENST00000343028.4	-	4	655	c.430G>A	c.(430-432)Gat>Aat	p.D144N	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	144						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATATCTAAATCGAACTCCAAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	60	61			NA	NA	12		NA											NA				27149763		2203	4300	6503	SO:0001583	missense			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115	51768	51768			23049	protein-coding gene	gene with protein product		605181			NA	10828615	Standard	NM_016551	NM_016551	NA	Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.430G>A	12.37:g.27149763C>T	ENSP00000342322:p.Asp144Asn	NA	B3KMZ3|Q9NUS4	37	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453206	0.26161	.	.	ENSG00000064115	ENST00000343028;ENST00000543803;ENST00000539741;ENST00000543088;ENST00000535423	T;T;T;T	0.47177	1.47;0.94;0.93;0.85	4.4	3.5	0.40072	.	0.265132	0.37669	N	0.001996	T	0.34164	0.0888	L	0.52266	1.64	0.34122	D	0.664214	B	0.30021	0.265	B	0.12837	0.008	T	0.42799	-0.9430	10	0.28530	T	0.3	-22.7313	7.8384	0.29384	0.0:0.7662:0.0:0.2338	.	144	Q9NS93	TM7S3_HUMAN	N	144;42;22;22;22	ENSP00000342322:D144N;ENSP00000442617:D42N;ENSP00000441027:D22N;ENSP00000444632:D22N	ENSP00000342322:D144N	D	-	1	0	TM7SF3	27041030	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.019000	0.30014	2.448000	0.82819	0.563000	0.77884	GAT	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403033.1		-	ENST00000343028.4	Missense_Mutation	SNP	12 : 27149763 - 27149763 T PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	259	26
TMEM208	29100	broad.mit.edu	37	16	67262758	67262758	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:67262758C>G	ENST00000563953.1	+	5	574	c.148C>G	c.(148-150)Ctc>Gtc	p.L50V	TMEM208_ENST00000304800.9_Missense_Mutation_p.L120V|TMEM208_ENST00000565201.1_Missense_Mutation_p.L120V|TMEM208_ENST00000563426.1_Intron			Q9BTX3	TM208_HUMAN	transmembrane protein 208	120						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CTGCTTCTCTCTCTATGTCTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	116	115			NA	NA	16		NA											NA				67262758		2021	4180	6201	SO:0001583	missense				CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701	29100	29100			25015	protein-coding gene	gene with protein product					NA	11042152	Standard	NM_014187	NM_014187	NA	Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000563953.1:c.148C>G	16.37:g.67262758C>G	ENSP00000462217:p.Leu50Val	NA	Q05CT0|Q96D25|Q9NZZ7	37		.	.	.	.	.	.	.	.	.	.	C	12.02	1.813010	0.32053	.	.	ENSG00000168701	ENST00000304800	T	0.28666	1.6	5.62	5.62	0.85841	.	0.745366	0.11021	N	0.608350	T	0.34745	0.0908	L	0.59436	1.845	0.35503	D	0.799939	P	0.35656	0.514	B	0.31812	0.136	T	0.42783	-0.9431	10	0.33940	T	0.23	.	18.2269	0.89920	0.0:1.0:0.0:0.0	.	120	Q9BTX3	TM208_HUMAN	V	120	ENSP00000305892:L120V	ENSP00000305892:L120V	L	+	1	0	TMEM208	65820259	0.961000	0.32948	1.000000	0.80357	0.957000	0.61999	2.027000	0.41078	2.637000	0.89404	0.561000	0.74099	CTC	TMEM208-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000421978.2		+	ENST00000563953.1	Missense_Mutation	SNP	16 : 67262758 - 67262758 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	642	82
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)											47	47	47			NA	NA	17		NA											NA				7578394		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.536A>G	17.37:g.7578394T>C	ENSP00000391127:p.His179Arg	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	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578394 - 7578394 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	252	39
TRPC4	7223	broad.mit.edu	37	13	38225420	38225420	+	Silent	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:38225420T>C	ENST00000379705.3	-	8	2918	c.2061A>G	c.(2059-2061)gaA>gaG	p.E687E	TRPC4_ENST00000358477.2_Silent_p.E687E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Silent_p.E514E|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Silent_p.E514E|TRPC4_ENST00000355779.2_Silent_p.E687E|TRPC4_ENST00000379681.3_Silent_p.E687E|TRPC4_ENST00000447043.1_Silent_p.E687E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	687	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCAAAACTTTCTGGCTTTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	138	140			NA	NA	13		NA											NA				38225420		2203	4300	6503	SO:0001819	synonymous_variant			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107	7223	7223		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	12336	protein-coding gene	gene with protein product		603651			NA	8646775, 16382100	Standard	NM_003306	NM_016179	NA	Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2061A>G	13.37:g.38225420T>C		NA	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	37	CCDS9365.1																																																																																			TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044574.2		-	ENST00000379705.3	Silent	SNP	13 : 38225420 - 38225420 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	460	67
ZNF320	162967	broad.mit.edu	37	19	53384748	53384748	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:53384748G>A	ENST00000595635.1	-	8	1132	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H211Y	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCCCTGTGAATTCTAGTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	98	101			NA	NA	19		NA											NA				53384748		2203	4300	6503	SO:0001583	missense			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986	162967	162967		Zinc fingers, C2H2-type, -	13842	protein-coding gene	gene with protein product		606427			NA	11536051	Standard	NM_207333	XM_006723059	NA	Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.631C>T	19.37:g.53384748G>A	ENSP00000473091:p.His211Tyr	NA	Q8NDR6	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	18.41	3.616954	0.66672	.	.	ENSG00000182986	ENST00000391781	T	0.67523	-0.27	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84602	0.5508	H	0.94698	3.57	0.32028	N	0.599881	D	0.89917	1.0	D	0.87578	0.998	D	0.85343	0.1097	9	0.72032	D	0.01	.	10.504	0.44823	0.0:0.0:1.0:0.0	.	211	A2RRD8	ZN320_HUMAN	Y	211	ENSP00000375660:H211Y	ENSP00000375660:H211Y	H	-	1	0	ZNF320	58076560	0.994000	0.37717	0.002000	0.10522	0.509000	0.34042	2.912000	0.48782	0.960000	0.38005	0.194000	0.17425	CAC	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463771.1		-	ENST00000595635.1	Missense_Mutation	SNP	19 : 53384748 - 53384748 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	514	67
ZNF362	149076	broad.mit.edu	37	1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	194				R -> L (in Ref. 1; AAL55863).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAACGCGGCCGCAAAAAGATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(162;1431 2676 35353 38425)							NA				0													24	26	25			NA	NA	1		NA											NA				33745956		2203	4300	6503	SO:0001583	missense				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094	149076	149076		Zinc fingers, C2H2-type	18079	protein-coding gene	gene with protein product	rotund homolog (Drosophila)				NA		Standard	NM_152493	NM_152493	NA	Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.581G>A	1.37:g.33745956G>A	ENSP00000446335:p.Arg194His	NA	Q8WYU4	37	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	36	5.713649	0.96830	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.09163	3.01;3.01	5.99	5.99	0.97316	.	0.468737	0.18085	N	0.152172	T	0.37404	0.1002	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.02512	-1.1148	10	0.87932	D	0	-36.2752	18.0311	0.89285	0.0:0.0:1.0:0.0	.	194	Q5T0B9	ZN362_HUMAN	H	181;194;194	ENSP00000446335:R194H;ENSP00000362527:R194H	ENSP00000362527:R194H	R	+	2	0	ZNF362	33518543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.314000	0.96306	2.857000	0.98124	0.650000	0.86243	CGC	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011857.2		+	ENST00000539719.1	Missense_Mutation	SNP	1 : 33745956 - 33745956 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	248	6
ZNF43	7594	broad.mit.edu	37	19	21990677	21990677	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:21990677A>G	ENST00000594012.1	-	7	2658	c.2144T>C	c.(2143-2145)cTt>cCt	p.L715P	ZNF43_ENST00000598381.1_Missense_Mutation_p.L715P|ZNF43_ENST00000354959.4_Missense_Mutation_p.L721P|ZNF43_ENST00000595461.1_Missense_Mutation_p.L715P	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGTTCAATAAGGTTTGAGGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	59	57			NA	NA	19		NA											NA				21990677		2203	4300	6503	SO:0001583	missense			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521	7594	7594		Zinc fingers, C2H2-type, -	13109	protein-coding gene	gene with protein product		603972	zinc finger protein 39-like 1 (KOX 27), zinc finger protein 43 (HTF6)	ZNF39L1	NA	1711675	Standard	NM_003423	NM_001256649	NA	Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000594012.1:c.2144T>C	19.37:g.21990677A>G	ENSP00000469578:p.Leu715Pro	NA	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	37	CCDS59367.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159953	0.38119	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.53857	0.6	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76033	0.3931	M	0.93808	3.46	0.23572	N	0.99739	D	0.89917	1.0	D	0.97110	1.0	T	0.62539	-0.6833	9	0.87932	D	0	.	8.2856	0.31926	1.0:0.0:0.0:0.0	.	721	P17038	ZNF43_HUMAN	P	720;721	ENSP00000347045:L721P	ENSP00000347045:L721P	L	-	2	0	ZNF43	21782517	0.247000	0.23920	0.003000	0.11579	0.850000	0.48378	2.617000	0.46385	0.808000	0.34231	0.254000	0.18369	CTT	ZNF43-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464250.1		-	ENST00000594012.1	Missense_Mutation	SNP	19 : 21990677 - 21990677 G PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	393	61
ZNF483	158399	broad.mit.edu	37	9	114304519	114304519	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:114304519G>C	ENST00000309235.5	+	6	1462	c.1304G>C	c.(1303-1305)gGa>gCa	p.G435A	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	435					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AATGAGAGTGGAGAAAAAACT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	67	65			NA	NA	9		NA											NA				114304519		2203	4300	6503	SO:0001583	missense			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258	158399	158399		Zinc fingers, C2H2-type, -, -, -	23384	protein-coding gene	gene with protein product					NA		Standard	XM_088567	NM_001007169	NA	Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1304G>C	9.37:g.114304519G>C	ENSP00000311679:p.Gly435Ala	NA	Q5VZN2	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638780	0.47153	.	.	ENSG00000173258	ENST00000309235	T	0.64618	-0.11	4.34	0.334	0.15948	.	0.376195	0.19591	N	0.110638	T	0.53546	0.1803	M	0.67625	2.065	0.80722	D	1	B	0.19331	0.035	B	0.18561	0.022	T	0.49093	-0.8975	10	0.66056	D	0.02	-8.169	5.1547	0.15029	0.2783:0.1531:0.5686:0.0	.	435	Q8TF39	ZN483_HUMAN	A	435	ENSP00000311679:G435A	ENSP00000311679:G435A	G	+	2	0	ZNF483	113344340	0.988000	0.35896	0.063000	0.19743	0.538000	0.34931	1.257000	0.32932	0.066000	0.16515	0.650000	0.86243	GGA	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053641.1		+	ENST00000309235.5	Missense_Mutation	SNP	9 : 114304519 - 114304519 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	482	67
ZNF730	100129543	broad.mit.edu	37	19	23329161	23329161	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:23329161C>A	ENST00000597761.2	+	4	1514	c.1315C>A	c.(1315-1317)Ctt>Att	p.L439I		NM_001277403.1	NP_001264332.1			zinc finger protein 730	NA										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTCCTCAACCCTTACTACACA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850	100129543	100129543		Zinc fingers, C2H2-type, -	32470	protein-coding gene	gene with protein product					NA		Standard	XM_001719792	NM_001277403	NA	Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1315C>A	19.37:g.23329161C>A	ENSP00000472959:p.Leu439Ile	NA		37	CCDS59371.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426119	0.25726	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.819	-0.505	0.11993	.	.	.	.	.	T	0.45438	0.1342	M	0.74647	2.275	0.09310	N	1	.	.	.	.	.	.	T	0.45745	-0.9240	6	0.56958	D	0.05	.	3.5002	0.07670	0.0:0.5056:0.2665:0.2279	.	.	.	.	I	439	.	ENSP00000329365:L439I	L	+	1	0	ZNF730	23121001	0.011000	0.17503	0.048000	0.18961	0.048000	0.14542	0.051000	0.14141	0.283000	0.22279	0.289000	0.19496	CTT	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465737.2		+	ENST00000597761.2	Missense_Mutation	SNP	19 : 23329161 - 23329161 A PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	325	27
ZNF98	148198	broad.mit.edu	37	19	22574559	22574559	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:22574559T>C	ENST00000357774.5	-	4	1599	c.1478A>G	c.(1477-1479)gAa>gGa	p.E493G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GCCACATTCTTCACATTTGTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	73	76			NA	NA	19		NA											NA				22574559		2186	4282	6468	SO:0001583	missense				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360	148198	148198		Zinc fingers, C2H2-type, -	13174	protein-coding gene	gene with protein product	zinc finger protein 739	603980			NA		Standard	NM_001098626	NM_001098626	NA	Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1478A>G	19.37:g.22574559T>C	ENSP00000350418:p.Glu493Gly	NA		37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	6.550	0.469806	0.12461	.	.	ENSG00000197360	ENST00000357774	T	0.07800	3.16	1.26	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	L	0.58583	1.82	0.09310	N	1	B	0.18968	0.032	B	0.32724	0.151	T	0.35599	-0.9782	9	0.56958	D	0.05	.	4.2531	0.10703	0.303:0.0:0.0:0.697	.	493	A6NK75	ZNF98_HUMAN	G	493	ENSP00000350418:E493G	ENSP00000350418:E493G	E	-	2	0	ZNF98	22366399	0.000000	0.05858	0.003000	0.11579	0.054000	0.15201	-1.949000	0.01532	0.557000	0.29117	0.240000	0.17902	GAA	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464398.1		-	ENST00000357774.5	Missense_Mutation	SNP	19 : 22574559 - 22574559 C PAAD-TCGA-HZ-8315-Tumor-SM-3MVDA	670	10
