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
ADAMTS19	171019	broad.mit.edu	37	5	129037148	129037148	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:129037148G>A	ENST00000274487.4	+	20	3149	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1002	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGACAAGTGGCCTGTACCCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	113	118			NA	NA	5		NA											NA				129037148		2203	4300	6503	SO:0001583	missense			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808	171019	171019		ADAM metallopeptidases with thrombospondin type 1 motif	17111	protein-coding gene	gene with protein product		607513	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19		NA	11867212	Standard	NM_133638	NM_133638	NA	Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3004G>A	5.37:g.129037148G>A	ENSP00000274487:p.Ala1002Thr	NA		37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487084	0.26686	.	.	ENSG00000145808	ENST00000274487	T	0.50813	0.73	4.0	3.13	0.36017	.	0.088465	0.44902	D	0.000406	T	0.15478	0.0373	N	0.00869	-1.13	0.38121	D	0.93784	B	0.14012	0.009	B	0.15052	0.012	T	0.09037	-1.0693	9	.	.	.	.	9.1005	0.36664	0.1723:0.0:0.8277:0.0	.	1002	Q8TE59	ATS19_HUMAN	T	1002	ENSP00000274487:A1002T	.	A	+	1	0	ADAMTS19	129065047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.694000	0.54742	1.273000	0.44346	0.650000	0.86243	GCC	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250979.2		+	ENST00000274487.4	Missense_Mutation	SNP	5 : 129037148 - 129037148 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	502	54
ADAMTS20	80070	broad.mit.edu	37	12	43847747	43847747	+	Missense_Mutation	SNP	C	C	T	rs150619594		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:43847747C>T	ENST00000389420.3	-	12	1722	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G575R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	575	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCGATTCCGCCTCCACAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	118	93	102		1723	4.8	1	12	dbSNP_134	102	0,8600		0,0,4300	no	missense	ADAMTS20	NM_025003.3	125	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	575/1911	43847747	1,13005	2203	4300	6503	SO:0001583	missense			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157	80070	80070		ADAM metallopeptidases with thrombospondin type 1 motif	17178	protein-coding gene	gene with protein product		611681	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20		NA	12514189, 12562771	Standard	NM_025003	NM_025003	NA	Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1723G>A	12.37:g.43847747C>T	ENSP00000374071:p.Gly575Arg	NA	A6NNC9	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774087	0.90108	2.27E-4	0.0	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.83673	-1.75;-1.75	4.77	4.77	0.60923	.	0.279795	0.24949	N	0.034312	D	0.94847	0.8335	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96742	0.9547	10	0.87932	D	0	.	18.6648	0.91485	0.0:1.0:0.0:0.0	.	575	P59510	ATS20_HUMAN	R	575	ENSP00000374071:G575R;ENSP00000448341:G575R	ENSP00000374068:G575R	G	-	1	0	ADAMTS20	42134014	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.196000	0.77805	2.586000	0.87340	0.585000	0.79938	GGA	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403643.1		-	ENST00000389420.3	Missense_Mutation	SNP	12 : 43847747 - 43847747 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	83	7
AGO1	26523	broad.mit.edu	37	1	36383988	36383988	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:36383988G>A	ENST00000373204.4	+	17	2442	c.2229G>A	c.(2227-2229)gaG>gaA	p.E743E	AGO1_ENST00000373206.1_Silent_p.E668E	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1	NA											NA						ACCCATTTGAGTTTGACTTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													306	277	287			NA	NA	1		NA											NA				36383988		2203	4300	6503	SO:0001819	synonymous_variant			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847	26523	26523		Argonaute/PIWI family	3262	protein-coding gene	gene with protein product	argonaute 1	606228	eukaryotic translation initiation factor 2C, 1	EIF2C1	NA	10534406, 12906857	Standard		NM_012199	NA	Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2229G>A	1.37:g.36383988G>A		NA		37	CCDS398.1																																																																																			AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019337.3		+	ENST00000373204.4	Silent	SNP	1 : 36383988 - 36383988 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	1045	21
AHRR	57491	broad.mit.edu	37	5	434517	434517	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:434517G>T	ENST00000316418.5	+	12	1772	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	AHRR_ENST00000506456.1_Missense_Mutation_p.W414C|AHRR_ENST00000512529.1_Missense_Mutation_p.W404C|AHRR_ENST00000505113.1_Missense_Mutation_p.W558C	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	558	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCAGGTGTGGCTGGGGGCCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	60	57			NA	NA	5		NA											NA				434517		2131	4244	6375	SO:0001583	missense			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438	57491	57491		Basic helix-loop-helix proteins	346	protein-coding gene	gene with protein product		606517	aryl hydrocarbon receptor regulator	AHH, AHHR	NA	1070014, 11423533	Standard	NM_020731	NM_020731	NA	Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000316418.5:c.1728G>T	5.37:g.434517G>T	ENSP00000323816:p.Trp576Cys	NA	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	37	CCDS43297.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580075	0.28180	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.73152	0.77;0.82;0.59;0.58;-0.72	4.74	2.94	0.34122	.	0.201899	0.46758	N	0.000278	T	0.74512	0.3726	L	0.36672	1.1	0.54753	D	0.999981	B;D;D	0.89917	0.023;1.0;1.0	B;D;D	0.91635	0.024;0.998;0.999	T	0.72903	-0.4151	10	0.56958	D	0.05	.	9.5858	0.39514	0.0:0.1544:0.6854:0.1602	.	414;558;576	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	C	558;576;404;414;213	ENSP00000424601:W558C;ENSP00000323816:W576C;ENSP00000424880:W404C;ENSP00000426932:W414C;ENSP00000426076:W213C	ENSP00000323816:W576C	W	+	3	0	AHRR	487517	1.000000	0.71417	0.841000	0.33234	0.040000	0.13550	3.498000	0.53302	0.523000	0.28482	0.555000	0.69702	TGG	AHRR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367719.2		+	ENST00000316418.5	Missense_Mutation	SNP	5 : 434517 - 434517 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	243	23
ANKRD24	170961	broad.mit.edu	37	19	4219626	4219626	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:4219626C>T	ENST00000600132.1	+	19	3318	c.3042C>T	c.(3040-3042)caC>caT	p.H1014H	ANKRD24_ENST00000318934.4_Silent_p.H1014H|ANKRD24_ENST00000262970.5_Silent_p.H1104H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1014										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGAGCGACACGCAGCCGAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	70	66			NA	NA	19		NA											NA				4219626		2197	4293	6490	SO:0001819	synonymous_variant			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847	170961	170961		Ankyrin repeat domain containing	29424	protein-coding gene	gene with protein product					NA	11853319	Standard	XM_114000	NM_133475	NA	Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3042C>T	19.37:g.4219626C>T		NA	O75268|O95781	37	CCDS45925.1																																																																																			ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458188.1		+	ENST00000600132.1	Silent	SNP	19 : 4219626 - 4219626 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	646	71
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:37486356G>C	ENST00000374660.1	+	35	2952	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1000						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	78	81			NA	NA	10		NA											NA				37486356		1801	4060	5861	SO:0001583	missense			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513	91074	91074		Ankyrin repeat domain containing	17234	protein-coding gene	gene with protein product	breast cancer antigen NY-BR-1	610856			NA	11280766	Standard	NM_052997	NM_052997	NA	Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.2853G>C	10.37:g.37486356G>C	ENSP00000363792:p.Lys951Asn	NA	Q5W025	37		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG	ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000047589.2		+	ENST00000374660.1	Missense_Mutation	SNP	10 : 37486356 - 37486356 C PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	478	9
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C	NA								p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				9	Substitution - Missense(9)	kidney(6)|lung(3)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501	400986	400986		Ankyrin repeat domain containing	32946	protein-coding gene	gene with protein product	protein immuno-reactive with anti-PTH polyclonal antibodies				NA		Standard	NM_001010914	XR_251121	NA	Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg	NA		37		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000338799.2		-	ENST00000456556.1	Missense_Mutation	SNP	2 : 96521777 - 96521777 C PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	204	7
ARNTL	406	broad.mit.edu	37	11	13408297	13408297	+	Silent	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:13408297G>T	ENST00000401424.1	+	20	2272	c.1746G>T	c.(1744-1746)ccG>ccT	p.P582P	ARNTL_ENST00000361003.4_Silent_p.P507P|ARNTL_ENST00000396441.3_Silent_p.P624P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403290.1_Silent_p.P625P|ARNTL_ENST00000403482.3_Silent_p.P623P|ARNTL_ENST00000389707.4_Silent_p.P624P|ARNTL_ENST00000403510.3_Silent_p.P581P	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	625					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGCCATGGCCGCTGTAAACAC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	121	130			NA	NA	11		NA											NA				13408297		2200	4294	6494	SO:0001819	synonymous_variant			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794	406	406		Basic helix-loop-helix proteins	701	protein-coding gene	gene with protein product		602550			NA	9144434, 9079689	Standard	NM_001178	XM_005252930	NA	Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000401424.1:c.1746G>T	11.37:g.13408297G>T		NA	A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	37																																																																																				ARNTL-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000319172.1		+	ENST00000401424.1	Silent	SNP	11 : 13408297 - 13408297 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	566	44
ATP1A2	477	broad.mit.edu	37	1	160098814	160098814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:160098814C>T	ENST00000361216.3	+	10	1350	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R421*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	421					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCTGTCTCGAATTGCTGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	36	39			NA	NA	1		NA											NA				160098814		2203	4300	6503	SO:0001587	stop_gained			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	477	477	3.6.3.9	ATPases / P-type	800	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-2, sodium pump subunit alpha-2, sodium-potassium ATPase catalytic subunit alpha-2	182340	migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	MHP2	NA	9403481	Standard	NM_000702	NM_000702	NA	Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1261C>T	1.37:g.160098814C>T	ENSP00000354490:p.Arg421*	NA	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	37	6.313929	0.97467	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	.	.	.	4.13	2.17	0.27698	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6931	0.51527	0.322:0.678:0.0:0.0	.	.	.	.	X	421;421;124	.	ENSP00000354490:R421X	R	+	1	2	ATP1A2	158365438	0.565000	0.26610	0.987000	0.45799	0.612000	0.37316	1.260000	0.32968	0.472000	0.27344	0.561000	0.74099	CGA	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060642.2		+	ENST00000361216.3	Nonsense_Mutation	SNP	1 : 160098814 - 160098814 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	130	11
BTN3A1	11119	broad.mit.edu	37	6	26406286	26406286	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:26406286T>C	ENST00000289361.6	+	3	603	c.235T>C	c.(235-237)Tat>Cat	p.Y79H	BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y79H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	79	Ig-like V-type 1.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGAACGTGTATGCAGATGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	84	74			NA	NA	6		NA											NA				26406286		2200	4295	6495	SO:0001583	missense			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950	NA	11119		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1138	protein-coding gene	gene with protein product		613593			NA	9149941	Standard		NM_007048	NA	Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.235T>C	6.37:g.26406286T>C	ENSP00000289361:p.Tyr79His	NA	A2A278|A8K2C8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	37	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.371832	0.42003	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;4.1;-0.12	2.21	-3.57	0.04612	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56217	0.1970	M	0.67625	2.065	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.50725	-0.8794	9	0.54805	T	0.06	.	4.3804	0.11291	0.0:0.3702:0.1798:0.4499	.	79;79;79;79	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	H	79	ENSP00000420010:Y79H;ENSP00000289361:Y79H;ENSP00000394937:Y79H;ENSP00000396684:Y79H;ENSP00000427013:Y79H;ENSP00000406667:Y79H	ENSP00000289361:Y79H	Y	+	1	0	BTN3A1	26514265	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-0.501000	0.06398	-0.918000	0.03808	0.454000	0.30748	TAT	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040112.3		+	ENST00000289361.6	Missense_Mutation	SNP	6 : 26406286 - 26406286 C PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	574	63
CEP350	9857	broad.mit.edu	37	1	179989588	179989594	+	Frame_Shift_Del	DEL	TCAGAAG	TCAGAAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	TCAGAAG	TCAGAAG	-	-	TCAGAAG	TCAGAAG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989588_179989594delTCAGAAG	ENST00000367607.3	+	12	3097_3103	c.2679_2685delTCAGAAG	c.(2677-2685)attcagaagfs	p.IQK893fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	893						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGCCAGAATTCAGAAGATGCTGGGAA	0.425		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837	9857	9857			24238	protein-coding gene	gene with protein product	centrosome associated protein 350				NA	16314388, 15615782	Standard	NM_014810	NM_014810	NA	Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2679_2685delTCAGAAG	1.37:g.179989588_179989594delTCAGAAG	ENSP00000356579:p.Ile893fs	NA	O75068|Q8TDK3|Q8WY20	37	CCDS1336.1																																																																																			CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085315.2		+	ENST00000367607.3	Frame_Shift_Del	DEL	1 : 179989588 - 179989594 - PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	460	47
CEP350	9857	broad.mit.edu	37	1	179989235	179989235	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989235G>T	ENST00000367607.3	+	12	2744	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	776						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAGGATTTTGAATCTATTTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	108			NA	NA	1		NA											NA				179989235		2203	4300	6503	SO:0001587	stop_gained			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837	9857	9857			24238	protein-coding gene	gene with protein product	centrosome associated protein 350				NA	16314388, 15615782	Standard	NM_014810	NM_014810	NA	Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2326G>T	1.37:g.179989235G>T	ENSP00000356579:p.Glu776*	NA	O75068|Q8TDK3|Q8WY20	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	42	9.531776	0.99196	.	.	ENSG00000135837	ENST00000367607	.	.	.	6.02	6.02	0.97574	.	0.258735	0.26812	N	0.022367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3137	0.90210	0.0:0.0:1.0:0.0	.	.	.	.	X	776	.	.	E	+	1	0	CEP350	178255858	1.000000	0.71417	0.991000	0.47740	0.696000	0.40369	6.394000	0.73223	2.865000	0.98341	0.655000	0.94253	GAA	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085315.2		+	ENST00000367607.3	Nonsense_Mutation	SNP	1 : 179989235 - 179989235 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	602	63
CEP350	9857	broad.mit.edu	37	1	179989793	179989793	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989793G>C	ENST00000367607.3	+	12	3302	c.2884G>C	c.(2884-2886)Gat>Cat	p.D962H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	962						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCTAGCTCTGATATGCAAGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	118	117			NA	NA	1		NA											NA				179989793		2203	4300	6503	SO:0001583	missense			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837	9857	9857			24238	protein-coding gene	gene with protein product	centrosome associated protein 350				NA	16314388, 15615782	Standard	NM_014810	NM_014810	NA	Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2884G>C	1.37:g.179989793G>C	ENSP00000356579:p.Asp962His	NA	O75068|Q8TDK3|Q8WY20	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593039	0.46214	.	.	ENSG00000135837	ENST00000367607	T	0.14022	2.54	6.02	6.02	0.97574	.	0.124193	0.35585	N	0.003120	T	0.19565	0.0470	L	0.29908	0.895	0.39682	D	0.970914	D;B	0.54397	0.966;0.303	P;B	0.52710	0.707;0.095	T	0.00756	-1.1579	9	.	.	.	.	17.26	0.87067	0.0:0.0:1.0:0.0	.	962;962	E7EU22;Q5VT06	.;CE350_HUMAN	H	962	ENSP00000356579:D962H	.	D	+	1	0	CEP350	178256416	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.938000	0.87678	2.865000	0.98341	0.655000	0.94253	GAT	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085315.2		+	ENST00000367607.3	Missense_Mutation	SNP	1 : 179989793 - 179989793 C PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	682	91
CHST11	50515	broad.mit.edu	37	12	105150764	105150764	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:105150764G>T	ENST00000303694.5	+	3	681	c.242G>T	c.(241-243)cGg>cTg	p.R81L	CHST11_ENST00000549260.1_Missense_Mutation_p.R76L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	81					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CACCAGATGCGGCGGGACCAG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	47	48			NA	NA	12		NA											NA				105150764		2200	4294	6494	SO:0001583	missense			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	50515	50515	2.8.2.5	Sulfotransferases, membrane-bound	17422	protein-coding gene	gene with protein product		610128			NA	10781601	Standard	NM_018413	NM_018413	NA	Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.242G>T	12.37:g.105150764G>T	ENSP00000305725:p.Arg81Leu	NA	A8K4F8|Q9NXY6|Q9NY36	37	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816480	0.90790	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.80653	-1.4;-1.39;-1.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89921	0.4059	10	0.87932	D	0	-14.4493	19.4315	0.94772	0.0:0.0:1.0:0.0	.	76;81	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	L	76;81;41	ENSP00000450004:R76L;ENSP00000305725:R81L;ENSP00000449095:R41L	ENSP00000305725:R81L	R	+	2	0	CHST11	103674894	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.430000	0.97488	2.600000	0.87896	0.655000	0.94253	CGG	CHST11-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405960.2		+	ENST00000303694.5	Missense_Mutation	SNP	12 : 105150764 - 105150764 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	397	33
CNBD1	168975	broad.mit.edu	37	8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)						G	ILE/VAL	1,3681		0,1,1840	101	98	99		1219	2.7	0.4	8		99	2,8166		0,2,4082	no	missense	CNBD1	NM_173538.2	29	0,3,5922	AA,AG,GG	NA	0.0245,0.0272,0.0253	benign	407/437	88365930	3,11847	1841	4084	5925	SO:0001583	missense			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571	168975	168975			26663	protein-coding gene	gene with protein product					NA		Standard	NM_173538	NM_173538	NA	Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1219G>A	8.37:g.88365930G>A	ENSP00000430073:p.Val407Ile	NA		37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388099	0.25118	2.72E-4	2.45E-4	ENSG00000176571	ENST00000518476	D	0.92397	-3.03	4.98	2.73	0.32206	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.322185	0.21804	N	0.068869	T	0.75273	0.3827	N	0.11560	0.145	0.09310	N	1	P	0.36647	0.563	B	0.28011	0.085	T	0.69789	-0.5050	10	0.05351	T	0.99	-13.7869	6.2957	0.21085	0.2887:0.0:0.7113:0.0	.	407	Q8NA66	CNBD1_HUMAN	I	407	ENSP00000430073:V407I	ENSP00000430073:V407I	V	+	1	0	CNBD1	88435046	0.171000	0.23029	0.437000	0.26809	0.931000	0.56810	-0.057000	0.11768	0.288000	0.22398	0.555000	0.69702	GTC	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375113.2		+	ENST00000518476.1	Missense_Mutation	SNP	8 : 88365930 - 88365930 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	289	39
CNTN1	1272	broad.mit.edu	37	12	41422888	41422888	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:41422888G>A	ENST00000551295.2	+	23	2964	c.2847G>A	c.(2845-2847)caG>caA	p.Q949Q	CNTN1_ENST00000347616.1_Silent_p.Q949Q|CNTN1_ENST00000348761.2_Silent_p.Q938Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	949	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGATGGCCAGCATGATGGCA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	133	136			NA	NA	12		NA											NA				41422888		2203	4300	6503	SO:0001819	synonymous_variant			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236	1272	1272		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands	2171	protein-coding gene	gene with protein product	glycoprotein gP135	600016			NA	7959734, 8586965	Standard	NM_001843	NM_001843	NA	Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2847G>A	12.37:g.41422888G>A		NA	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	37	CCDS8737.1																																																																																			CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403692.2		+	ENST00000551295.2	Silent	SNP	12 : 41422888 - 41422888 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	601	7
COL2A1	1280	broad.mit.edu	37	12	48367243	48367243	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:48367243C>T	ENST00000380518.3	-	54	4575	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1402R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1471	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGGCCCTCCTATGTCCATG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	146	149			NA	NA	12		NA											NA				48367243		2203	4300	6503	SO:0001583	missense			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219	1280	1280		Collagens	2200	protein-coding gene	gene with protein product		120140	collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), arthroophthalmopathy, progressive (Stickler syndrome)	SEDC, AOM	NA	1677770	Standard	NM_001844	NM_033150	NA	Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4411G>A	12.37:g.48367243C>T	ENSP00000369889:p.Gly1471Arg	NA	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940351	0.73557	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.78126	-1.15;-1.15	4.65	4.65	0.58169	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.91112	0.7202	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93677	0.6995	10	0.87932	D	0	.	17.4825	0.87677	0.0:1.0:0.0:0.0	.	1402;1471	P02458-1;P02458	.;CO2A1_HUMAN	R	1471;1402;1402	ENSP00000369889:G1471R;ENSP00000338213:G1402R	ENSP00000338213:G1402R	G	-	1	0	COL2A1	46653510	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.725000	0.84808	2.274000	0.75844	0.561000	0.74099	GGA	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313810.2		-	ENST00000380518.3	Missense_Mutation	SNP	12 : 48367243 - 48367243 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	685	72
CUL2	8453	broad.mit.edu	37	10	35317808	35317808	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:35317808G>A	ENST00000374748.1	-	17	1860	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V	CUL2_ENST00000537177.1_Missense_Mutation_p.A535V|CUL2_ENST00000374746.1_Missense_Mutation_p.A516V|CUL2_ENST00000602371.1_Missense_Mutation_p.A459V|CUL2_ENST00000374742.1_Missense_Mutation_p.A516V|CUL2_ENST00000374749.3_Missense_Mutation_p.A516V|CUL2_ENST00000374751.3_Missense_Mutation_p.A516V			Q13617	CUL2_HUMAN	cullin 2	516					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGAGGCCACGCACCAGCCTA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	37	36			NA	NA	10		NA											NA				35317808		2203	4300	6503	SO:0001583	missense			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094	8453	8453			2552	protein-coding gene	gene with protein product		603135			NA	8681378	Standard	NM_003591	NM_003591	NA	Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1547C>T	10.37:g.35317808G>A	ENSP00000363880:p.Ala516Val	NA	B3KT95|D3DRY6|O00200|Q5T2B6|Q9UNF9	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511389	0.96386	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.77	5.77	0.91146	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.84745	0.5540	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.995	D	0.84150	0.0422	10	0.59425	D	0.04	-21.1493	20.3626	0.98863	0.0:0.0:1.0:0.0	.	516;535;516	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	V	516;516;516;516;459;516;535	ENSP00000363883:A516V;ENSP00000363880:A516V;ENSP00000363878:A516V;ENSP00000363881:A516V;ENSP00000363874:A516V;ENSP00000444856:A535V	ENSP00000363874:A516V	A	-	2	0	CUL2	35357814	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	9.864000	0.99589	2.885000	0.99019	0.655000	0.94253	GCG	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047538.1		-	ENST00000374748.1	Missense_Mutation	SNP	10 : 35317808 - 35317808 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	259	27
DEFB119	245932	broad.mit.edu	37	20	29978252	29978252	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:29978252A>G	ENST00000339144.3	-	1	141	c.35T>C	c.(34-36)cTg>cCg	p.L12P	DEFB119_ENST00000376315.2_Missense_Mutation_p.L12P|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Missense_Mutation_p.L12P			Q8N690	DB119_HUMAN	defensin, beta 119	12					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTCTATGGCCAGAAGGATGGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	145	150			NA	NA	20		NA											NA				29978252		2203	4300	6503	SO:0001583	missense			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483	245932	245932		Defensins, beta	18099	protein-coding gene	gene with protein product			defensin, beta 120	DEFB120	NA	11854508	Standard	NM_153289	NM_153289	NA	Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000339144.3:c.35T>C	20.37:g.29978252A>G	ENSP00000345768:p.Leu12Pro	NA	Q5GRG1|Q5JWP1|Q8N689	37		.	.	.	.	.	.	.	.	.	.	A	8.498	0.863675	0.17250	.	.	ENSG00000180483	ENST00000339144;ENST00000376321;ENST00000376315	T;T	0.50277	0.9;0.75	3.56	3.56	0.40772	.	0.251087	0.21123	N	0.079786	T	0.64103	0.2568	.	.	.	0.45066	D	0.998088	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.952;0.98	T	0.66976	-0.5787	9	0.87932	D	0	-10.6634	8.8245	0.35047	1.0:0.0:0.0:0.0	.	12;12;12	Q8N690-2;Q8N690;Q5TH42	.;DB119_HUMAN;.	P	12	ENSP00000365499:L12P;ENSP00000365492:L12P	ENSP00000345768:L12P	L	-	2	0	DEFB119	29441913	0.995000	0.38212	0.957000	0.39632	0.058000	0.15608	3.346000	0.52190	1.865000	0.54081	0.374000	0.22700	CTG	DEFB119-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000078512.1		-	ENST00000339144.3	Missense_Mutation	SNP	20 : 29978252 - 29978252 G PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	781	136
DNAAF3	352909	broad.mit.edu	37	19	55672738	55672738	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:55672738C>T	ENST00000527223.2	-	7	917	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	DNAAF3_ENST00000391720.4_Missense_Mutation_p.V285I|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Missense_Mutation_p.V238I|DNAAF3_ENST00000455045.1_Missense_Mutation_p.V184I	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	238											NA						TCAAAGGCGACGCCTGTGTCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	25	23			NA	NA	19		NA											NA				55672738		2018	4168	6186	SO:0001583	missense			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646	352909	352909			30492	protein-coding gene	gene with protein product		614566	chromosome 19 open reading frame 51, ciliary dyskinesia, primary 2	C19orf51, CILD2	NA	22387996	Standard	NM_178837	NM_001256714	NA	Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000527223.2:c.916G>A	19.37:g.55672738C>T	ENSP00000436975:p.Val306Ile	NA	A8MUY0|Q6P4F6|Q8N9W0|Q96AR2	37	CCDS58680.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537784	0.45176	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.15952	2.38;2.38	4.15	3.11	0.35812	.	0.072738	0.52532	D	0.000075	T	0.17023	0.0409	L	0.43923	1.385	0.24705	N	0.993234	D;D;B;P	0.71674	0.998;0.975;0.078;0.861	P;B;B;B	0.49361	0.608;0.406;0.012;0.123	T	0.07347	-1.0777	10	0.27785	T	0.31	-27.8995	6.7445	0.23454	0.0:0.7852:0.0:0.2148	.	306;184;259;238	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	I	306;184;285	ENSP00000394343:V184I;ENSP00000375600:V285I	ENSP00000301249:V306I	V	-	1	0	C19orf51	60364550	0.845000	0.29573	0.780000	0.31762	0.995000	0.86356	1.542000	0.36137	1.101000	0.41535	0.549000	0.68633	GTC	DNAAF3-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250386.4		-	ENST00000527223.2	Missense_Mutation	SNP	19 : 55672738 - 55672738 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	168	17
EPB41L3	23136	broad.mit.edu	37	18	5419762	5419762	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:5419762C>T	ENST00000341928.2	-	12	1794	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	485	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ccccttcctccgtttgtcctc	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	128	152			NA	NA	18		NA											NA				5419762		2203	4300	6503	SO:0001583	missense			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397	23136	23136			3380	protein-coding gene	gene with protein product		605331			NA	9828140, 9892180	Standard	NM_012307	NM_012307	NA	Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1454G>A	18.37:g.5419762C>T	ENSP00000343158:p.Arg485Gln	NA	O95713|Q9BRP5	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703468	0.30232	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;D;T;D	0.82255	-1.37;-1.56;-1.37;-1.59	5.61	4.73	0.59995	.	1.452490	0.04085	N	0.310269	T	0.76723	0.4027	L	0.49126	1.545	0.30694	N	0.751003	P;D;B;P;P	0.54601	0.938;0.967;0.357;0.709;0.535	B;B;B;B;B	0.37267	0.245;0.124;0.038;0.131;0.023	T	0.69209	-0.5205	10	0.40728	T	0.16	.	4.881	0.13679	0.18:0.644:0.0:0.1761	.	503;64;394;503;485	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	Q	485;394;503;394;485;503	ENSP00000343158:R485Q;ENSP00000441174:R503Q;ENSP00000341138:R485Q;ENSP00000382981:R503Q	ENSP00000343158:R485Q	R	-	2	0	EPB41L3	5409762	0.999000	0.42202	0.059000	0.19551	0.335000	0.28730	2.452000	0.44961	1.469000	0.48083	0.655000	0.94253	CGG	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254424.1		-	ENST00000341928.2	Missense_Mutation	SNP	18 : 5419762 - 5419762 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	384	48
ESR2	2100	broad.mit.edu	37	14	64727336	64727336	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr14:64727336G>A	ENST00000553796.1	-	4	782	c.783C>T	c.(781-783)gaC>gaT	p.D261D	ESR2_ENST00000357782.2_Silent_p.D261D|ESR2_ENST00000341099.4_Silent_p.D261D|ESR2_ENST00000542956.1_Silent_p.D261D|ESR2_ENST00000358599.5_Silent_p.D261D|ESR2_ENST00000267525.6_Silent_p.D261D|ESR2_ENST00000554572.1_Silent_p.D261D|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000557772.1_Silent_p.D261D|ESR2_ENST00000353772.3_Silent_p.D261D|ESR2_ENST00000555278.1_Silent_p.D261D	NM_001271876.1	NP_001258805.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	261	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.D261D(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GGCTCAGGGCGTCCAGCAGCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	endometrium(2)											26	28	27			NA	NA	14		NA											NA				64727336		2202	4293	6495	SO:0001819	synonymous_variant			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009	NA	2100		Nuclear hormone receptors	3468	protein-coding gene	gene with protein product		601663			NA	8769313	Standard		NM_001214902	NA	Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000553796.1:c.783C>T	14.37:g.64727336G>A		NA	A8K8K5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	37																																																																																				ESR2-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412159.1		-	ENST00000553796.1	Silent	SNP	14 : 64727336 - 64727336 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	367	79
EXOC4	60412	broad.mit.edu	37	7	132990791	132990791	+	Missense_Mutation	SNP	G	G	A	rs140653799		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:132990791G>A	ENST00000253861.4	+	4	661	c.632G>A	c.(631-633)cGt>cAt	p.R211H	EXOC4_ENST00000539845.1_Missense_Mutation_p.R110H|EXOC4_ENST00000393161.2_Missense_Mutation_p.R211H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	211					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTGTGCAGCGTAACAAGGAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	109	95	100		632,632	2.9	0.7	7	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EXOC4	NM_001037126.1,NM_021807.3	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	211/474,211/975	132990791	1,13005	2203	4300	6503	SO:0001583	missense			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558	60412	60412			30389	protein-coding gene	gene with protein product		608185	SEC8-like 1 (S. cerevisiae)	SEC8L1	NA	11214970, 12687004	Standard	NM_021807	XM_005250523	NA	Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.632G>A	7.37:g.132990791G>A	ENSP00000253861:p.Arg211His	NA	Q541U8|Q9C0G4|Q9H9K0|Q9P102	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039673	0.55003	0.0	1.16E-4	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	4.91	2.93	0.34026	.	0.265519	0.36665	N	0.002470	T	0.44808	0.1311	L	0.45581	1.43	0.80722	D	1	B;B	0.16802	0.019;0.001	B;B	0.04013	0.001;0.0	T	0.20874	-1.0262	9	0.18710	T	0.47	.	8.6968	0.34301	0.0857:0.0:0.7673:0.147	.	211;211	Q96A65;Q8TAR2	EXOC4_HUMAN;.	H	211;211;110	.	ENSP00000253861:R211H	R	+	2	0	EXOC4	132641331	0.975000	0.34042	0.678000	0.29963	0.990000	0.78478	1.560000	0.36331	0.470000	0.27294	0.655000	0.94253	CGT	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339182.1		+	ENST00000253861.4	Missense_Mutation	SNP	7 : 132990791 - 132990791 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	301	5
FGF23	8074	broad.mit.edu	37	12	4479899	4479899	+	Silent	SNP	G	G	A	rs145147639		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:4479899G>A	ENST00000237837.1	-	3	511	c.366C>T	c.(364-366)aaC>aaT	p.N122N		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	122					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCGTACCCGTTTTCCAGCG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	107	105	106		366	0.6	1	12	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FGF23	NM_020638.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		122/252	4479899	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972	8074	8074			3680	protein-coding gene	gene with protein product		605380			NA	11032749, 18310961	Standard		NM_020638	NA	Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.366C>T	12.37:g.4479899G>A		NA	Q4V758	37	CCDS8526.1																																																																																			FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398936.1		-	ENST00000237837.1	Silent	SNP	12 : 4479899 - 4479899 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	880	100
FOXD3	27022	broad.mit.edu	37	1	63789346	63789346	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:63789346C>T	ENST00000371116.2	+	1	617	c.617C>T	c.(616-618)cCg>cTg	p.P206L	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCCGCGAGCCGGGCAACCCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(68;276 1750 11966 31252)							NA				0													86	101	96			NA	NA	1		NA											NA				63789346		2203	4300	6503	SO:0001583	missense			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140	27022	27022		Forkhead boxes	3804	protein-coding gene	gene with protein product		611539			NA	8499623	Standard		NM_012183	NA	Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.617C>T	1.37:g.63789346C>T	ENSP00000360157:p.Pro206Leu	NA	Q9BYM2|Q9UDD1	37	CCDS624.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038446	0.75617	.	.	ENSG00000187140	ENST00000371116	D	0.95412	-3.7	2.6	2.6	0.31112	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.96288	0.8789	M	0.72353	2.195	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	D	0.96508	0.9376	10	0.87932	D	0	.	13.9222	0.63940	0.0:1.0:0.0:0.0	.	206	Q9UJU5	FOXD3_HUMAN	L	206	ENSP00000360157:P206L	ENSP00000360157:P206L	P	+	2	0	FOXD3	63561934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.344000	0.44010	1.759000	0.51996	0.460000	0.39030	CCG	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025331.1		+	ENST00000371116.2	Missense_Mutation	SNP	1 : 63789346 - 63789346 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	1021	106
FRY	10129	broad.mit.edu	37	13	32783787	32783787	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:32783787A>T	ENST00000380250.3	+	33	4837	c.4341A>T	c.(4339-4341)aaA>aaT	p.K1447N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAATGAGAAATGGAGCAACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	163	163			NA	NA	13		NA											NA				32783787		1962	4151	6113	SO:0001583	missense			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910	10129	10129			20367	protein-coding gene	gene with protein product		614818	chromosome 13 open reading frame 14	C13orf14	NA	14702039, 8812419	Standard	NM_023037	NM_023037	NA	Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4341A>T	13.37:g.32783787A>T	ENSP00000369600:p.Lys1447Asn	NA	Q9Y3N6	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827518	0.50845	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23754	1.89	5.48	-6.97	0.01616	.	0.048340	0.85682	D	0.000000	T	0.15609	0.0376	N	0.22421	0.69	0.58432	D	0.999997	B	0.33345	0.409	B	0.38755	0.281	T	0.03335	-1.1047	10	0.18710	T	0.47	.	16.3704	0.83355	0.4617:0.0:0.5383:0.0	.	1447	Q5TBA9	FRY_HUMAN	N	1447;284	ENSP00000369600:K1447N	ENSP00000369600:K1447N	K	+	3	2	FRY	31681787	0.173000	0.23056	0.847000	0.33407	0.862000	0.49288	-0.307000	0.08167	-1.244000	0.02516	-0.379000	0.06801	AAA	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044405.1		+	ENST00000380250.3	Missense_Mutation	SNP	13 : 32783787 - 32783787 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	494	95
GPX5	2880	broad.mit.edu	37	6	28501886	28501886	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:28501886C>T	ENST00000412168.2	+	5	697	c.608C>T	c.(607-609)aCg>aTg	p.T203M	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	203					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CACCGGGCTACGGTCAGCTCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,	0,4406		0,0,2203	84	82	83		608,	2.7	0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	GPX5	NM_001509.2,NM_003996.3	81,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,	203/222,	28501886	1,13005	2203	4300	6503	SO:0001583	missense			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	2880	2880	1.11.1.9		4557	protein-coding gene	gene with protein product		603435			NA	9639555	Standard		NM_001509	NA	Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.608C>T	6.37:g.28501886C>T	ENSP00000392398:p.Thr203Met	NA		37	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666106	0.14710	0.0	1.16E-4	ENSG00000224586	ENST00000412168	T	0.04194	3.68	4.52	2.7	0.31948	Thioredoxin-like fold (2);	0.659654	0.15691	N	0.249449	T	0.02727	0.0082	M	0.63843	1.955	0.09310	N	1	D	0.59767	0.986	P	0.44772	0.46	T	0.40117	-0.9580	10	0.48119	T	0.1	-14.0316	7.4322	0.27134	0.1803:0.73:0.0:0.0897	.	203	O75715	GPX5_HUMAN	M	203	ENSP00000392398:T203M	ENSP00000392398:T203M	T	+	2	0	GPX5	28609865	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	1.329000	0.33770	0.793000	0.33875	-0.119000	0.15052	ACG	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043672.2		+	ENST00000412168.2	Missense_Mutation	SNP	6 : 28501886 - 28501886 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	510	54
HSD17B12	51144	broad.mit.edu	37	11	43852525	43852525	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:43852525G>T	ENST00000278353.4	+	7	620		c.e7-1		HSD17B12_ENST00000529261.1_Splice_Site|RP11-613D13.5_ENST00000499066.2_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	NA					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						CTCTCTTGCAGATGACACAAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(58;548 1143 13948 16572 34258)							NA				0													184	160	168			NA	NA	11		NA											NA				43852525		2203	4300	6503	SO:0001630	splice_region_variant			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	51144	51144	1.1.1.62	Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	18646	protein-coding gene	gene with protein product	3-ketoacyl-CoA reductase, short chain dehydrogenase/reductase family 12C, member 1	609574			NA	12482854, 19027726	Standard		NM_016142	NA	Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.502-1G>T	11.37:g.43852525G>T		NA	A8K9B0|D3DR23|Q96JU2|Q9Y6G8	37	CCDS7905.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108041	0.77096	.	.	ENSG00000149084	ENST00000531185;ENST00000278353	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B12	43809101	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.590000	0.82653	2.937000	0.99478	0.650000	0.86243	.	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389594.1	Intron	+	ENST00000278353.4	Splice_Site	SNP	11 : 43852525 - 43852525 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	545	45
KCNIP2	30819	broad.mit.edu	37	10	103590842	103590842	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:103590842G>A	ENST00000356640.2	-	2	431	c.156C>T	c.(154-156)ccC>ccT	p.P52P	KCNIP2_ENST00000358038.3_Silent_p.P52P|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000461105.1_Silent_p.P52P|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000353068.3_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	52					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CACTGACTGAGGGCAGGGCTT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	41			NA	NA	10		NA											NA				103590842		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049	30819	30819		EF-hand domain containing	15522	protein-coding gene	gene with protein product		604661	Kv channel-interacting protein 2		NA	10676964	Standard		NM_173192	NA	Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.156C>T	10.37:g.103590842G>A		NA	A6NJE5|A8MQ75|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	37	CCDS7522.1																																																																																			KCNIP2-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049973.1		-	ENST00000356640.2	Silent	SNP	10 : 103590842 - 103590842 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	169	22
KLC2	64837	broad.mit.edu	37	11	66034032	66034032	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:66034032T>A	ENST00000394065.2	+	13	2457	c.1439T>A	c.(1438-1440)cTc>cAc	p.L480H	KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394067.2_Intron|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000417856.1_Intron|KLC2_ENST00000316924.5_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	0					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAAGCTTCCCTCCAGCATGCC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	18			NA	NA	11		NA											NA				66034032		692	1591	2283	SO:0001583	missense			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996	64837	64837		Tetratricopeptide (TTC) repeat domain containing	20716	protein-coding gene	gene with protein product		611729			NA	9624122	Standard	NM_022822	NM_022822	NA	Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000394065.2:c.1439T>A	11.37:g.66034032T>A	ENSP00000377629:p.Leu480His	NA	B2RDY4|Q9H9C8|Q9HA20	37		.	.	.	.	.	.	.	.	.	.	T	11.70	1.717056	0.30413	.	.	ENSG00000174996	ENST00000394065	D	0.85955	-2.05	2.78	-2.6	0.06190	.	.	.	.	.	T	0.68531	0.3011	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.50717	-0.8795	7	.	.	.	.	3.4502	0.07495	0.1921:0.4808:0.0:0.3271	.	480	A8MZ87	.	H	480	ENSP00000377629:L480H	.	L	+	2	0	KLC2	65790608	0.005000	0.15991	0.002000	0.10522	0.195000	0.23768	0.727000	0.25999	-0.517000	0.06461	0.260000	0.18958	CTC	KLC2-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000258204.2		+	ENST00000394065.2	Missense_Mutation	SNP	11 : 66034032 - 66034032 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	178	13
KMT2C	58508	broad.mit.edu	37	7	151921114	151921114	+	Nonsense_Mutation	SNP	A	A	T	rs4024337		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:151921114A>T	ENST00000262189.6	-	20	3527	c.3309T>A	c.(3307-3309)tgT>tgA	p.C1103*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C1103*	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA								p.C1103*(10)			NA						CACATTGTCTACATTGCAGAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				10	Substitution - Nonsense(10)	kidney(6)|endometrium(4)											56	51	52			NA	NA	7		NA											NA				151921114		2203	4300	6503	SO:0001587	stop_gained			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3309T>A	7.37:g.151921114A>T	ENSP00000262189:p.Cys1103*	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	41	8.814636	0.98964	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	-2.79	0.05841	.	0.000000	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2367	0.59972	0.4373:0.0:0.5627:0.0	rs4024337	.	.	.	X	1103	.	ENSP00000262189:C1103X	C	-	3	2	MLL3	151552047	0.735000	0.28153	0.983000	0.44433	0.992000	0.81027	-0.154000	0.10130	-0.431000	0.07307	0.528000	0.53228	TGT	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Nonsense_Mutation	SNP	7 : 151921114 - 151921114 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	338	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	148	12
KRT86	3892	broad.mit.edu	37	12	52695732	52695732	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:52695732C>A	ENST00000423955.2	+	3	210	c.32C>A	c.(31-33)gCc>gAc	p.A11D	KRT86_ENST00000544024.1_Missense_Mutation_p.A11D|KRT86_ENST00000293525.5_Missense_Mutation_p.A11D			O43790	KRT86_HUMAN	keratin 86	11	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTGGCCGCGCCTTCAGCTGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	12		NA											NA				52695732		2166	4279	6445	SO:0001583	missense			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442	3892	3892		-, Intermediate filaments type II, keratins (basic)	6463	protein-coding gene	gene with protein product	hard keratin type II 6	601928	keratin, hair, basic, 6 (monilethrix)	KRTHB6	NA	9241275, 16831889	Standard	NM_002284	NM_002284	NA	Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.32C>A	12.37:g.52695732C>A	ENSP00000444533:p.Ala11Asp	NA	P78387	37	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225010	0.39300	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.81330	-1.48;-1.48;-1.48	5.01	5.01	0.66863	.	1.824800	0.03602	U	0.233611	T	0.75064	0.3799	L	0.27053	0.805	0.34929	D	0.749164	B	0.06786	0.001	B	0.04013	0.001	T	0.58411	-0.7641	10	0.56958	D	0.05	.	11.9409	0.52901	0.0:0.8097:0.1903:0.0	.	11	O43790	KRT86_HUMAN	D	11	ENSP00000443169:A11D;ENSP00000444533:A11D;ENSP00000293525:A11D	ENSP00000293525:A11D	A	+	2	0	AC021066.1;KRT86	50981999	0.630000	0.27155	0.988000	0.46212	0.777000	0.43975	0.609000	0.24238	2.320000	0.78422	0.643000	0.83706	GCC	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404911.1		+	ENST00000423955.2	Missense_Mutation	SNP	12 : 52695732 - 52695732 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	575	12
LETM1	3954	broad.mit.edu	37	4	1838239	1838239	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:1838239G>A	ENST00000302787.2	-	4	951	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	219	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCCATGAACGGCACCACCACG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	136	147			NA	NA	4		NA											NA				1838239		2203	4300	6503	SO:0001583	missense			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924	3954	3954		EF-hand domain containing	6556	protein-coding gene	gene with protein product	Mdm38 homolog (yeast)	604407			NA	10486213	Standard		NM_012318	NA	Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.655C>T	4.37:g.1838239G>A	ENSP00000305653:p.Pro219Ser	NA	B4DED2|Q9UF65	37	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839614	0.91117	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.79033	-1.23	4.01	4.01	0.46588	LETM1-like (1);	0.000000	0.85682	D	0.000000	D	0.90099	0.6907	M	0.92412	3.305	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.948	D	0.93036	0.6453	10	0.87932	D	0	-35.3303	16.3116	0.82873	0.0:0.0:1.0:0.0	.	219;219	O95202-3;O95202	.;LETM1_HUMAN	S	219;179	ENSP00000305653:P219S	ENSP00000305653:P219S	P	-	1	0	LETM1	1808037	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.506000	0.97992	2.077000	0.62373	0.563000	0.77884	CCG	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000241634.1		-	ENST00000302787.2	Missense_Mutation	SNP	4 : 1838239 - 1838239 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	543	8
LRRC45	201255	broad.mit.edu	37	17	79983019	79983019	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:79983019T>G	ENST00000306688.3	+	4	839	c.497T>G	c.(496-498)cTa>cGa	p.L166R	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	166						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAGCTGGCCCTAGCCCTGAAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	24	23			NA	NA	17		NA											NA				79983019		2182	4288	6470	SO:0001583	missense			BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683	201255	201255			28302	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144999	NM_144999	NA	Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.497T>G	17.37:g.79983019T>G	ENSP00000306760:p.Leu166Arg	NA		37	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.085981	0.55861	.	.	ENSG00000169683	ENST00000306688	T	0.51817	0.69	3.85	2.75	0.32379	.	0.387055	0.24833	N	0.035239	T	0.36248	0.0960	N	0.04373	-0.215	0.36634	D	0.876484	D	0.53462	0.96	P	0.59424	0.857	T	0.32107	-0.9919	9	.	.	.	-12.8284	8.6719	0.34156	0.0:0.0939:0.0:0.9061	.	166	Q96CN5	LRC45_HUMAN	R	166	ENSP00000306760:L166R	.	L	+	2	0	LRRC45	77576308	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	3.635000	0.54309	1.530000	0.49136	0.460000	0.39030	CTA	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442058.1		+	ENST00000306688.3	Missense_Mutation	SNP	17 : 79983019 - 79983019 G PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	138	18
MATN2	4147	broad.mit.edu	37	8	99045355	99045355	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:99045355C>T	ENST00000521689.1	+	17	3084	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	MATN2_ENST00000520016.1_Silent_p.D889D|MATN2_ENST00000254898.5_Silent_p.D889D|MATN2_ENST00000524308.1_Silent_p.D848D|MATN2_ENST00000522025.2_Silent_p.D605D|RPL30_ENST00000518164.1_Intron			O00339	MATN2_HUMAN	matrilin 2	889						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TTGAAGAAGACAATCTTTTAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	74	78			NA	NA	8		NA											NA				99045355		1821	4084	5905	SO:0001819	synonymous_variant			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15					4147	4147			6908	protein-coding gene	gene with protein product		602108			NA	9083061, 11852232	Standard		XM_005250920	NA	Approved		uc003yic.3	O00339		ENST00000521689.1:c.2610C>T	8.37:g.99045355C>T		NA	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	37	CCDS55265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.191|8.191	0.795925|0.795925	0.16327|0.16327	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154|ENST00000519582;ENST00000522135	.|.	.|.	.|.	5.76|5.76	1.72|1.72	0.24424|0.24424	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51736	.|0.1692	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42899	.|-0.9424	.|4	.|.	.|.	.|.	-37.6152|-37.6152	5.185|5.185	0.15180|0.15180	0.0:0.5998:0.1496:0.2506|0.0:0.5998:0.1496:0.2506	.|.	.|.	.|.	.|.	X|I	653|126;52	.|.	.|.	Q|T	+|+	1|2	0|0	MATN2|MATN2	99114531|99114531	0.064000|0.064000	0.20934|0.20934	0.989000|0.989000	0.46669|0.46669	0.981000|0.981000	0.71138|0.71138	-0.162000|-0.162000	0.10012|0.10012	0.790000|0.790000	0.33803|0.33803	-0.137000|-0.137000	0.14449|0.14449	CAA|ACA	MATN2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380327.1		+	ENST00000521689.1	Silent	SNP	8 : 99045355 - 99045355 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	96	8
MKL2	57496	broad.mit.edu	37	16	14280893	14280893	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:14280893G>T	ENST00000572567.1	+	1	319		c.e1+1		MKL2_ENST00000571589.1_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Splice_Site|MKL2_ENST00000318282.5_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	NA					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCAAGGAAGGTCAGTCTGTC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	22	23			NA	NA	16		NA											NA				14280893		876	1991	2867	SO:0001630	splice_region_variant			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260	57496	57496			29819	protein-coding gene	gene with protein product		609463			NA	10574462	Standard	NM_014048	NM_014048	NA	Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000572567.1:c.121+1G>T	16.37:g.14280893G>T		NA	A6ND53|Q68CT1|Q6UB16|Q86WW2|Q8N226	37		.	.	.	.	.	.	.	.	.	.	G	18.48	3.633236	0.67015	.	.	ENSG00000186260	ENST00000389126;ENST00000341243	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9209	0.92525	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MKL2	14188394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.420000	0.73349	2.884000	0.98904	0.655000	0.94253	.	MKL2-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000436627.2	Intron	+	ENST00000572567.1	Splice_Site	SNP	16 : 14280893 - 14280893 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	120	10
MYH15	22989	broad.mit.edu	37	3	108110745	108110745	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:108110745C>A	ENST00000273353.3	-	38	5408	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1784						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGTGTCTTGCTTCTTCTTCA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	204	209			NA	NA	3		NA											NA				108110745		1884	4121	6005	SO:0001583	missense			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821	22989	22989		Myosins / Myosin superfamily : Class II	31073	protein-coding gene	gene with protein product		609929	myosin, heavy polypeptide 15		NA	15014174, 15042088	Standard	XM_036988	NM_014981	NA	Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5352G>T	3.37:g.108110745C>A	ENSP00000273353:p.Lys1784Asn	NA		37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101562	0.56183	.	.	ENSG00000144821	ENST00000273353	T	0.77489	-1.1	5.62	0.606	0.17559	Myosin tail (1);	.	.	.	.	T	0.65709	0.2717	N	0.19112	0.55	0.34830	D	0.739586	B	0.29671	0.254	B	0.39465	0.3	T	0.65212	-0.6223	9	0.87932	D	0	.	5.9578	0.19283	0.121:0.6092:0.0:0.2698	.	1784	Q9Y2K3	MYH15_HUMAN	N	1784	ENSP00000273353:K1784N	ENSP00000273353:K1784N	K	-	3	2	MYH15	109593435	1.000000	0.71417	0.823000	0.32752	0.870000	0.49936	1.227000	0.32576	0.040000	0.15660	0.655000	0.94253	AAG	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353935.1		-	ENST00000273353.3	Missense_Mutation	SNP	3 : 108110745 - 108110745 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	840	96
MZF1	7593	broad.mit.edu	37	19	59073841	59073841	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:59073841C>G	ENST00000215057.2	-	6	2363	c.1803G>C	c.(1801-1803)gaG>gaC	p.E601D	MZF1_ENST00000599369.1_Missense_Mutation_p.E601D|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	601					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCTGGCCACACTCGGGGCAGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	20	22			NA	NA	19		NA											NA				59073841		2202	4297	6499	SO:0001583	missense			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326	7593	7593		-, Zinc fingers, C2H2-type	13108	protein-coding gene	gene with protein product		194550	zinc finger protein 42 (myeloid-specific retinoic acid-responsive)	ZNF42	NA	1860835	Standard	NM_198055	NM_198055	NA	Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1803G>C	19.37:g.59073841C>G	ENSP00000215057:p.Glu601Asp	NA	Q96I71|Q9NRY0|Q9UBW2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300340	0.40694	.	.	ENSG00000099326	ENST00000215057	T	0.32988	1.43	3.21	0.896	0.19253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.231155	0.22357	N	0.061125	T	0.15869	0.0382	N	0.17594	0.5	0.31431	N	0.673168	B	0.06786	0.001	B	0.09377	0.004	T	0.09509	-1.0671	10	0.37606	T	0.19	-7.1772	7.2841	0.26328	0.1919:0.6218:0.1863:0.0	.	601	P28698	MZF1_HUMAN	D	601	ENSP00000215057:E601D	ENSP00000215057:E601D	E	-	3	2	MZF1	63765653	0.000000	0.05858	0.985000	0.45067	0.990000	0.78478	-1.097000	0.03349	0.320000	0.23234	0.462000	0.41574	GAG	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467112.1		-	ENST00000215057.2	Missense_Mutation	SNP	19 : 59073841 - 59073841 G PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	98	14
NFKBIZ	64332	broad.mit.edu	37	3	101574269	101574269	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:101574269C>A	ENST00000326172.5	+	8	1736	c.1621C>A	c.(1621-1623)Cag>Aag	p.Q541K	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q441K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q419K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	541	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGGAAGTAATCAGTTTGTGGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	137	137			NA	NA	3		NA											NA				101574269		2203	4300	6503	SO:0001583	missense			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802	64332	64332		Ankyrin repeat domain containing	29805	protein-coding gene	gene with protein product	IL-1 inducible nuclear ankyrin-repeat protein	608004			NA	12565889, 16513645	Standard	NM_031419	NM_031419	NA	Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1621C>A	3.37:g.101574269C>A	ENSP00000325663:p.Gln541Lys	NA	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294456	0.81025	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.66	5.66	0.87406	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000002	T	0.43919	0.1269	N	0.16708	0.43	0.54753	D	0.99998	P;D	0.53885	0.907;0.963	P;P	0.60682	0.568;0.878	T	0.36065	-0.9763	10	0.42905	T	0.14	-20.6546	19.7324	0.96188	0.0:1.0:0.0:0.0	.	419;541	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	K	441;441;419;541	ENSP00000419800:Q441K;ENSP00000377618:Q441K;ENSP00000325593:Q419K;ENSP00000325663:Q541K	ENSP00000325593:Q419K	Q	+	1	0	NFKBIZ	103056959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.654000	0.61469	2.663000	0.90544	0.655000	0.94253	CAG	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353793.1		+	ENST00000326172.5	Missense_Mutation	SNP	3 : 101574269 - 101574269 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	611	65
OR10H2	26538	broad.mit.edu	37	19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	rs139469467		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	75	81			NA	NA	19		NA											NA				15839311		2203	4300	6503	SO:0001583	missense			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942	26538	26538		GPCR / Class A : Olfactory receptors	8173	protein-coding gene	gene with protein product					NA		Standard		NM_013939	NA	Approved		uc002nbm.2	O60403		ENST00000305899.3:c.458C>T	19.37:g.15839311C>T	ENSP00000306095:p.Ser153Leu	NA	Q6IFQ1|Q96R58	37	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.360	-0.939686	0.02322	.	.	ENSG00000171942	ENST00000305899	T	0.00019	9.06	3.4	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	1.096810	0.07137	N	0.846687	T	0.00039	0.0001	N	0.02973	-0.45	0.09310	N	1	B	0.12630	0.006	B	0.19946	0.027	T	0.00510	-1.1697	10	0.10902	T	0.67	.	6.8361	0.23937	0.0:0.2906:0.0:0.7094	.	153	O60403	O10H2_HUMAN	L	153	ENSP00000306095:S153L	ENSP00000306095:S153L	S	+	2	0	OR10H2	15700311	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.238000	0.08977	-0.296000	0.08947	0.537000	0.68136	TCG	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460917.1		+	ENST00000305899.3	Missense_Mutation	SNP	19 : 15839311 - 15839311 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	369	6
OR4A47	403253	broad.mit.edu	37	11	48510911	48510911	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:48510911C>A	ENST00000446524.1	+	1	643	c.567C>A	c.(565-567)gaC>gaA	p.D189E		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTGCACTGACACCCATGCTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	149	151			NA	NA	11		NA											NA				48510911		2201	4298	6499	SO:0001583	missense			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388	403253	403253		GPCR / Class A : Olfactory receptors	31266	protein-coding gene	gene with protein product					NA		Standard	NM_001005512	NM_001005512	NA	Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.567C>A	11.37:g.48510911C>A	ENSP00000412752:p.Asp189Glu	NA		37	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	8.025	0.760507	0.15914	.	.	ENSG00000237388	ENST00000446524	T	0.00227	8.5	4.59	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.222293	0.31415	N	0.007693	T	0.00300	0.0009	M	0.88105	2.93	0.18873	N	0.999985	B	0.23442	0.085	B	0.28784	0.094	T	0.31308	-0.9948	10	0.72032	D	0.01	.	8.1997	0.31417	0.0:0.728:0.0:0.272	.	189	Q6IF82	O4A47_HUMAN	E	189	ENSP00000412752:D189E	ENSP00000412752:D189E	D	+	3	2	OR4A47	48467487	0.229000	0.23729	0.652000	0.29579	0.089000	0.18198	-0.085000	0.11250	0.911000	0.36747	0.205000	0.17691	GAC	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390559.1		+	ENST00000446524.1	Missense_Mutation	SNP	11 : 48510911 - 48510911 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	883	76
OR51A4	401666	broad.mit.edu	37	11	4968175	4968175	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:4968175C>A	ENST00000380373.2	-	1	181	c.156G>T	c.(154-156)aaG>aaT	p.K52N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCTCTGTCTTGATGATAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	128	132			NA	NA	11		NA											NA				4968175		2198	4298	6496	SO:0001583	missense			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497	401666	401666		GPCR / Class A : Olfactory receptors	14795	protein-coding gene	gene with protein product					NA		Standard	NM_001005329	NM_001005329	NA	Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.156G>T	11.37:g.4968175C>A	ENSP00000369731:p.Lys52Asn	NA		37	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	C	6.353	0.433199	0.12045	.	.	ENSG00000205497	ENST00000380373	T	0.03004	4.08	3.53	-0.808	0.10868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08714	0.0216	M	0.82433	2.59	0.09310	N	1	B	0.27498	0.18	B	0.37451	0.25	T	0.27706	-1.0066	9	0.41790	T	0.15	.	8.3068	0.32047	0.0:0.6345:0.0:0.3655	.	52	Q8NGJ6	O51A4_HUMAN	N	52	ENSP00000369731:K52N	ENSP00000369731:K52N	K	-	3	2	OR51A4	4924751	0.000000	0.05858	0.254000	0.24359	0.361000	0.29550	-2.701000	0.00824	-0.259000	0.09432	0.562000	0.76482	AAG	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142821.1		-	ENST00000380373.2	Missense_Mutation	SNP	11 : 4968175 - 4968175 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	573	7
PAX6	5080	broad.mit.edu	37	11	31823124	31823124	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:31823124G>A	ENST00000419022.1	-	7	852	c.384C>T	c.(382-384)aaC>aaT	p.N128N	PAX6_ENST00000379123.5_Silent_p.N114N|PAX6_ENST00000379132.3_Silent_p.N114N|PAX6_ENST00000379129.2_Silent_p.N128N|PAX6_ENST00000379115.4_Silent_p.N128N|PAX6_ENST00000379111.2_Silent_p.N114N|PAX6_ENST00000379107.2_Silent_p.N128N|PAX6_ENST00000241001.8_Silent_p.N114N	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	114	Paired.		R -> C (in FOVHYP; isolated).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTATGTTATCGTTGGTACAGA	0.512		NA							Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	11		NA											NA				31823124		2202	4299	6501	SO:0001819	synonymous_variant	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372	5080	5080		Paired boxes, Homeoboxes / PRD class	8620	protein-coding gene	gene with protein product	aniridia, keratitis	607108	paired box gene 6 (aniridia, keratitis)	AN2	NA	1302030	Standard	NM_001604	NM_001127612	NA	Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000419022.1:c.384C>T	11.37:g.31823124G>A		NA	Q6N006|Q99413	37	CCDS31452.1																																																																																			PAX6-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099286.3		-	ENST00000419022.1	Silent	SNP	11 : 31823124 - 31823124 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	491	53
PCDHGA3	56112	broad.mit.edu	37	5	140725483	140725483	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140725483C>T	ENST00000253812.6	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			protocadherin gamma subfamily A, 3	NA										breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													8	12	11			NA	NA	5		NA											NA				140725483		1985	3985	5970	SO:0001583	missense			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245	56112	56112		Cadherins / Protocadherins : Clustered	8701	other	protocadherin		606290			NA	10380929	Standard	NM_018916	NM_032011	NA	Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1883C>T	5.37:g.140725483C>T	ENSP00000253812:p.Thr628Met	NA		37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.230592	0.79688	.	.	ENSG00000254245	ENST00000253812	T	0.56941	0.43	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004248	T	0.80586	0.4651	H	0.95402	3.665	0.40444	D	0.980074	D;D	0.89917	1.0;0.998	D;D	0.64776	0.928;0.929	D	0.86843	0.2018	10	0.72032	D	0.01	.	18.9241	0.92537	0.0:1.0:0.0:0.0	.	628;628	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	628	ENSP00000253812:T628M	ENSP00000253812:T628M	T	+	2	0	PCDHGA3	140705667	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.478000	0.81082	2.636000	0.89361	0.558000	0.71614	ACG	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377017.1		+	ENST00000253812.6	Missense_Mutation	SNP	5 : 140725483 - 140725483 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	915	75
PCDHGB1	56104	broad.mit.edu	37	5	140729951	140729951	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140729951G>A	ENST00000523390.1	+	1	124	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			protocadherin gamma subfamily B, 1	NA										central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCCAACGGCTCACGGGT	0.527		NA									OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	51	51			NA	NA	5		NA											NA				140729951		1888	4126	6014	SO:0001583	missense			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221	56104	56104		Cadherins / Protocadherins : Clustered	8708	other	protocadherin	protocadherin gamma subfamily B, 1, isoform 2	606299			NA	10380929	Standard	NM_018922	NM_018922	NA	Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.124G>A	5.37:g.140729951G>A	ENSP00000429273:p.Gly42Ser	1658		37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	27.1	4.796737	0.90453	.	.	ENSG00000254221	ENST00000523390	T	0.51574	0.7	5.52	5.52	0.82312	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.78923	0.4360	H	0.95260	3.645	0.39854	D	0.97328	D;D	0.76494	0.998;0.999	D;D	0.71870	0.947;0.975	D	0.85452	0.1161	9	0.72032	D	0.01	.	19.4222	0.94726	0.0:0.0:1.0:0.0	.	42;42	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	S	42	ENSP00000429273:G42S	ENSP00000429273:G42S	G	+	1	0	PCDHGB1	140710135	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	6.223000	0.72257	2.756000	0.94617	0.563000	0.77884	GGC	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374740.1		+	ENST00000523390.1	Missense_Mutation	SNP	5 : 140729951 - 140729951 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	168	14
PCDHGC3	5098	broad.mit.edu	37	5	140856777	140856777	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140856777C>T	ENST00000308177.3	+	1	1198	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			protocadherin gamma subfamily C, 3	NA										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGGATGCCCCTCTGGGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	44	45			NA	NA	5		NA											NA				140856777		2203	4300	6503	SO:0001583	missense			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184	5098	5098		Cadherins / Protocadherins : Clustered	8716	other	protocadherin	cadherin-like 2, protocadherin 2, protocadherin 43	603627		PCDH2	NA	9360932, 8508762	Standard	NM_002588	NM_032402	NA	Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1094C>T	5.37:g.140856777C>T	ENSP00000312070:p.Ala365Val	NA		37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706593	0.89018	.	.	ENSG00000240184	ENST00000308177	T	0.55588	0.51	5.49	5.49	0.81192	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.69450	0.3112	L	0.54965	1.715	0.39337	D	0.965512	D;D	0.89917	0.999;1.0	D;D	0.75020	0.985;0.984	T	0.68375	-0.5425	9	0.48119	T	0.1	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	365;365	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	365	ENSP00000312070:A365V	ENSP00000312070:A365V	A	+	2	0	PCDHGC3	140836961	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	5.915000	0.69973	2.865000	0.98341	0.655000	0.94253	GCC	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251808.2		+	ENST00000308177.3	Missense_Mutation	SNP	5 : 140856777 - 140856777 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	259	5
PDE3A	5139	broad.mit.edu	37	12	20801641	20801641	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:20801641G>A	ENST00000359062.3	+	13	2625	c.2585G>A	c.(2584-2586)cGt>cAt	p.R862H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	862	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATAACGATCGTTCAGTTTTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	135	137			NA	NA	12		NA											NA				20801641		2203	4300	6503	SO:0001583	missense				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	5139	5139	3.1.4.17	Phosphodiesterases	8778	protein-coding gene	gene with protein product		123805			NA	1315035, 10679291	Standard		NM_000921	NA	Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2585G>A	12.37:g.20801641G>A	ENSP00000351957:p.Arg862His	NA	O60865|Q13348|Q17RD1	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017327	0.93404	.	.	ENSG00000172572	ENST00000359062	D	0.81908	-1.55	5.76	5.76	0.90799	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.097634	0.64402	D	0.000001	D	0.91988	0.7462	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92298	0.5847	10	0.87932	D	0	.	19.9617	0.97254	0.0:0.0:1.0:0.0	.	862	Q14432	PDE3A_HUMAN	H	862	ENSP00000351957:R862H	ENSP00000351957:R862H	R	+	2	0	PDE3A	20692908	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.412000	0.97347	2.722000	0.93159	0.650000	0.86243	CGT	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401756.2		+	ENST00000359062.3	Missense_Mutation	SNP	12 : 20801641 - 20801641 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	687	69
PPP2R3B	28227	broad.mit.edu	37	X	299380	299380	+	Silent	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:299380G>T	ENST00000390665.3	-	12	1554	c.1536C>A	c.(1534-1536)atC>atA	p.I512I		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	512					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCACCAGGATGTCGTACT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	82	85			NA	NA	X		NA											NA				299380		2183	4281	6464	SO:0001819	synonymous_variant			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393	28227	28227		Pseudoautosomal regions / PAR1, Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, EF-hand domain containing	13417	protein-coding gene	gene with protein product		300339	protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta	PPP2R3L	NA	11173861	Standard	NM_013239	NM_013239	NA	Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1536C>A	X.37:g.299380G>T		NA	Q6P4G9|Q7RTT1|Q96H01	37	CCDS14104.1																																																																																			PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055577.2		-	ENST00000390665.3	Silent	SNP	X : 299380 - 299380 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	153	13
SCN5A	6331	broad.mit.edu	37	3	38622673	38622673	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:38622673C>T	ENST00000455624.2	-	16	3001	c.2977G>A	c.(2977-2979)Gca>Aca	p.A993T	SCN5A_ENST00000333535.4_Missense_Mutation_p.A993T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A993T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A993T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A993T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A993T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A993T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A993T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A993T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A993T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	993					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAAGGGCTGCGGGCTTCTGA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	13	13			NA	NA	3		NA											NA				38622673		1922	4105	6027	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.2977G>A	3.37:g.38622673C>T	ENSP00000399524:p.Ala993Thr	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	C	2.132	-0.398935	0.04865	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.38	2.53	0.30540	Sodium ion transport-associated (1);	1.066670	0.07154	N	0.849551	T	0.76104	0.3941	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B;B;B	0.10296	0.001;0.002;0.003;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B	0.08055	0.003;0.003;0.002;0.003;0.003;0.003;0.002	T	0.54925	-0.8220	10	0.13853	T	0.58	.	9.7536	0.40490	0.0:0.7672:0.0:0.2328	.	993;993;993;993;993;993;993	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	T	993	ENSP00000398962:A993T;ENSP00000398266:A993T;ENSP00000410257:A993T;ENSP00000388797:A993T;ENSP00000397915:A993T;ENSP00000416634:A993T;ENSP00000328968:A993T;ENSP00000399524:A993T;ENSP00000403355:A993T;ENSP00000413996:A993T	ENSP00000328968:A993T	A	-	1	0	SCN5A	38597677	0.014000	0.17966	0.000000	0.03702	0.045000	0.14185	0.343000	0.19944	0.221000	0.20879	0.561000	0.74099	GCA	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38622673 - 38622673 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	127	16
SEZ6L	23544	broad.mit.edu	37	22	26743709	26743709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:26743709C>T	ENST00000360929.3	+	11	2393	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S746L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S746L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L	NM_001184776.1	NP_001171705.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	746	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACTCCTGCTCGGATTTACCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	22		NA											NA				26743709		2203	4300	6503	SO:0001583	missense			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095	23544	23544			10763	protein-coding gene	gene with protein product		607021	seizure related gene 6 (mouse)-like		NA		Standard		NM_021115	NA	Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000360929.3:c.2237C>T	22.37:g.26743709C>T	ENSP00000354185:p.Ser746Leu	NA	A0AUW7|B0QYG4|B0QYG5|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	37	CCDS54511.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592053	0.66219	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.88	3.84	0.44239	Complement control module (2);Sushi/SCR/CCP (3);	0.161209	0.29100	N	0.013144	T	0.47764	0.1463	L	0.35487	1.065	0.80722	D	1	B;B;B;P;B;B;B	0.35208	0.429;0.192;0.083;0.49;0.228;0.115;0.115	B;B;B;B;B;B;B	0.28305	0.088;0.08;0.016;0.081;0.081;0.08;0.08	T	0.57136	-0.7863	10	0.72032	D	0.01	.	12.7022	0.57041	0.0:0.9192:0.0:0.0808	.	746;746;519;746;746;746;746	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	746;746;746;746;746;519;519	ENSP00000384772:S746L;ENSP00000437037:S746L;ENSP00000354185:S746L;ENSP00000248933:S746L;ENSP00000342661:S746L;ENSP00000384838:S519L;ENSP00000384733:S519L	ENSP00000248933:S746L	S	+	2	0	SEZ6L	25073709	1.000000	0.71417	0.963000	0.40424	0.901000	0.52897	5.529000	0.67135	2.543000	0.85770	0.655000	0.94253	TCG	SEZ6L-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320356.2		+	ENST00000360929.3	Missense_Mutation	SNP	22 : 26743709 - 26743709 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	434	46
SIPA1	6494	broad.mit.edu	37	11	65408965	65408965	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:65408965C>T	ENST00000527525.1	+	2	820	c.573C>T	c.(571-573)aaC>aaT	p.N191N	SIPA1_ENST00000534313.1_Silent_p.N191N|SIPA1_ENST00000394227.3_Silent_p.N191N|SIPA1_ENST00000394224.3_Silent_p.N191N			Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	191					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACTGCCCAACGCGGCCGTGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	38	38			NA	NA	11		NA											NA				65408965		2201	4296	6497	SO:0001819	synonymous_variant			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445	6494	6494			10885	protein-coding gene	gene with protein product		602180			NA	9027487	Standard	NM_006747	NM_006747	NA	Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000527525.1:c.573C>T	11.37:g.65408965C>T		NA	O14518|O60484|O60618|Q2YD83	37																																																																																				SIPA1-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390355.1		+	ENST00000527525.1	Silent	SNP	11 : 65408965 - 65408965 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	463	38
SNX2	6643	broad.mit.edu	37	5	122163297	122163297	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:122163297G>A	ENST00000514949.1	+	14	1917	c.1114G>A	c.(1114-1116)Gtt>Att	p.V372I	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000379516.2_Missense_Mutation_p.V489I	NM_001278199.1	NP_001265128.1	O60749	SNX2_HUMAN	sorting nexin 2	489					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	p.V489I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTTTAAAACCGTTATCATCAA	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											83	87	86			NA	NA	5		NA											NA				122163297		2203	4300	6503	SO:0001583	missense			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302	6643	6643		Sorting nexins	11173	protein-coding gene	gene with protein product		605929			NA	9819414	Standard	NM_003100	NM_003100	NA	Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000514949.1:c.1114G>A	5.37:g.122163297G>A	ENSP00000421663:p.Val372Ile	NA	B3KN44|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	37		.	.	.	.	.	.	.	.	.	.	G	11.10	1.539584	0.27563	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.57907	0.37;0.37	5.72	4.85	0.62838	Vps5 C-terminal (1);	0.118494	0.64402	D	0.000018	T	0.32823	0.0842	N	0.11255	0.115	0.41069	D	0.985434	B	0.02656	0.0	B	0.06405	0.002	T	0.12268	-1.0554	10	0.14252	T	0.57	-0.4711	15.1561	0.72743	0.068:0.0:0.932:0.0	.	489	O60749	SNX2_HUMAN	I	489;372	ENSP00000368831:V489I;ENSP00000421663:V372I	ENSP00000368831:V489I	V	+	1	0	SNX2	122191196	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.406000	0.59748	1.551000	0.49450	0.650000	0.86243	GTT	SNX2-011	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000371402.1		+	ENST00000514949.1	Missense_Mutation	SNP	5 : 122163297 - 122163297 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	304	26
SON	6651	broad.mit.edu	37	21	34922087	34922087	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr21:34922087G>T	ENST00000381679.4	+	3	578	c.550G>T	c.(550-552)Gca>Tca	p.A184S	SON_ENST00000290239.6_Missense_Mutation_p.A184S|SON_ENST00000356577.4_Missense_Mutation_p.A184S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.A184S			P18583	SON_HUMAN	SON DNA binding protein	184					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGAATCCCCTGCAGTTGTGCT	0.448		NA									OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	89	89			NA	NA	21		NA											NA				34922087		2203	4300	6503	SO:0001583	missense			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140	6651	6651		G patch domain containing	11183	protein-coding gene	gene with protein product	NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1	182465		C21orf50	NA	8318737, 21551269	Standard	NM_138927	NM_032195	NA	Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000381679.4:c.550G>T	21.37:g.34922087G>T	ENSP00000371095:p.Ala184Ser	851	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	37		.	.	.	.	.	.	.	.	.	.	G	13.26	2.185090	0.38609	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.14144	2.72;2.71;2.71;2.53	5.77	-1.16	0.09678	.	0.483837	0.19324	N	0.117068	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46859	0.817;0.885;0.794	B;B;B	0.43052	0.23;0.406;0.406	T	0.23119	-1.0197	10	0.62326	D	0.03	.	1.2414	0.01964	0.1591:0.2573:0.3049:0.2787	.	184;184;184	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	S	184	ENSP00000348984:A184S;ENSP00000290239:A184S;ENSP00000300278:A184S;ENSP00000371095:A184S	ENSP00000290239:A184S	A	+	1	0	SON	33843957	0.268000	0.24133	0.147000	0.22382	0.381000	0.30169	0.044000	0.13992	-0.100000	0.12241	0.655000	0.94253	GCA	SON-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140982.3		+	ENST00000381679.4	Missense_Mutation	SNP	21 : 34922087 - 34922087 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	548	61
SP7	121340	broad.mit.edu	37	12	53723126	53723126	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:53723126G>A	ENST00000537210.2	-	2	275	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	SP7_ENST00000303846.3_Missense_Mutation_p.R34W|SP7_ENST00000536324.2_Missense_Mutation_p.R34W			Q8TDD2	SP7_HUMAN	Sp7 transcription factor	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R34W(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTTGAGTCCCGCAGAGGGCTA	0.577		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)											95	98	97			NA	NA	12		NA											NA				53723126		2112	4236	6348	SO:0001583	missense			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374	121340	121340		Specificity protein transcription factors, Zinc fingers, C2H2-type	17321	protein-coding gene	gene with protein product		606633			NA	11792318	Standard		NM_152860	NA	Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000537210.2:c.46C>T	12.37:g.53723126G>A	ENSP00000441367:p.Arg16Trp	NA	B3KY26|Q3MJ72	37		.	.	.	.	.	.	.	.	.	.	G	15.45	2.838582	0.51057	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.46819	3.27;3.27;3.26;0.86	3.95	3.95	0.45737	.	0.125602	0.49916	D	0.000136	T	0.43545	0.1252	L	0.46157	1.445	0.45318	D	0.998317	D	0.61080	0.989	P	0.45428	0.48	T	0.47837	-0.9086	10	0.72032	D	0.01	.	11.1404	0.48400	0.0:0.0:0.8148:0.1852	.	34	Q8TDD2	SP7_HUMAN	W	34;34;16;16	ENSP00000443827:R34W;ENSP00000302812:R34W;ENSP00000441367:R16W;ENSP00000449355:R16W	ENSP00000302812:R34W	R	-	1	2	SP7	52009393	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.809000	0.47971	2.497000	0.84241	0.313000	0.20887	CGG	SP7-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000407041.1		-	ENST00000537210.2	Missense_Mutation	SNP	12 : 53723126 - 53723126 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	585	7
SPSB4	92369	broad.mit.edu	37	3	140866041	140866041	+	Missense_Mutation	SNP	G	G	A	rs79933965		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:140866041G>A	ENST00000310546.2	+	3	1496	c.752G>A	c.(751-753)cGc>cAc	p.R251H	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCCTGGGCCGCCAGCGCCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	51	51	51		752	5.7	1	3	dbSNP_131	51	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPSB4	NM_080862.1	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	251/274	140866041	1,13005	2203	4300	6503	SO:0001583	missense				CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093	92369	92369			30630	protein-coding gene	gene with protein product		611660			NA	12076535	Standard	NM_080862	NM_080862	NA	Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.752G>A	3.37:g.140866041G>A	ENSP00000311609:p.Arg251His	NA		37	CCDS3115.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892680	0.91889	0.0	1.16E-4	ENSG00000175093	ENST00000310546	T	0.47528	0.84	5.67	5.67	0.87782	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.72353	2.195	0.47621	D	0.999479	B	0.31655	0.334	B	0.28011	0.085	T	0.45789	-0.9237	10	0.34782	T	0.22	-25.8085	17.2564	0.87057	0.0:0.0:1.0:0.0	.	251	Q96A44	SPSB4_HUMAN	H	251	ENSP00000311609:R251H	ENSP00000311609:R251H	R	+	2	0	SPSB4	142348731	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.577000	0.82486	2.676000	0.91093	0.561000	0.74099	CGC	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359727.1		+	ENST00000310546.2	Missense_Mutation	SNP	3 : 140866041 - 140866041 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	308	30
SVIL	6840	broad.mit.edu	37	10	29822208	29822208	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:29822208G>A	ENST00000355867.4	-	8	1840	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L	SVIL_ENST00000375398.2_Missense_Mutation_p.P363L|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	363					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCCACGGATTGGCTGTCGTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	75	79			NA	NA	10		NA											NA				29822208		2203	4300	6503	SO:0001583	missense			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321	6840	6840			11480	protein-coding gene	gene with protein product	archvillin	604126			NA	9382871	Standard		NM_003174	NA	Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1088C>T	10.37:g.29822208G>A	ENSP00000348128:p.Pro363Leu	NA	D3DRW9|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222354	0.58560	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.50277	0.75;0.75	5.85	4.01	0.46588	.	0.127449	0.51477	N	0.000083	T	0.50394	0.1613	M	0.71581	2.175	0.80722	D	1	P	0.51933	0.949	P	0.45310	0.476	T	0.51710	-0.8671	9	.	.	.	-7.9583	12.1685	0.54144	0.137:0.0:0.863:0.0	.	363	O95425	SVIL_HUMAN	L	363	ENSP00000364547:P363L;ENSP00000348128:P363L	.	P	-	2	0	SVIL	29862214	0.999000	0.42202	0.113000	0.21522	0.654000	0.38779	2.965000	0.49200	0.823000	0.34589	0.655000	0.94253	CCA	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047395.1		-	ENST00000355867.4	Missense_Mutation	SNP	10 : 29822208 - 29822208 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	422	43
TAF2	6873	broad.mit.edu	37	8	120770369	120770369	+	Silent	SNP	A	A	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:120770369A>G	ENST00000378164.2	-	21	3010	c.2712T>C	c.(2710-2712)taT>taC	p.Y904Y	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	904					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCAGTTCTTCATAACTTCTGT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	140	140			NA	NA	8		NA											NA				120770369		2203	4298	6501	SO:0001819	synonymous_variant			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313	6873	6873			11536	protein-coding gene	gene with protein product		604912	TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD	TAF2B	NA	9774672, 9418870	Standard	NM_003184	NM_003184	NA	Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2712T>C	8.37:g.120770369A>G		NA	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	37	CCDS34937.1																																																																																			TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381436.1		-	ENST00000378164.2	Silent	SNP	8 : 120770369 - 120770369 G PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	805	71
TCF4	6925	broad.mit.edu	37	18	53017618	53017618	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:53017618C>T	ENST00000561992.1	-	4	529	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000356073.4_Missense_Mutation_p.R174Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000354452.3_Missense_Mutation_p.R174Q	NM_001243233.1	NP_001230162.1	P15884	ITF2_HUMAN	transcription factor 4	174	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGAACTTTTCGAACTTTCTT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	122	128			NA	NA	18		NA											NA				53017618		2203	4300	6503	SO:0001583	missense			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628	6925	6925		Basic helix-loop-helix proteins	11634	protein-coding gene	gene with protein product		602272			NA	9302263, 2308860	Standard	NM_003199	NM_001083962	NA	Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000561992.1:c.131G>A	18.37:g.53017618C>T	ENSP00000455179:p.Arg44Gln	NA	B4DT37|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	37	CCDS58626.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347222	0.82022	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.48	5.48	0.80851	.	0.105285	0.42172	D	0.000742	T	0.69269	0.3092	M	0.71036	2.16	0.35708	D	0.816131	D;P;D;D;P;D;D	0.62365	0.991;0.938;0.991;0.984;0.88;0.973;0.973	P;B;P;P;B;P;B	0.47376	0.545;0.346;0.545;0.465;0.115;0.545;0.406	T	0.79983	-0.1573	10	0.87932	D	0	-15.0974	18.1047	0.89516	0.0:1.0:0.0:0.0	.	150;174;150;276;174;132;103	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	Q	174;174;132;150;150;103;44;276	ENSP00000346440:R174Q;ENSP00000348374:R174Q;ENSP00000439656:R132Q;ENSP00000445202:R150Q;ENSP00000440731:R150Q;ENSP00000441562:R103Q;ENSP00000439827:R44Q;ENSP00000381382:R276Q	ENSP00000346440:R174Q	R	-	2	0	TCF4	51168616	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.985000	0.70556	2.582000	0.87167	0.491000	0.48974	CGA	TCF4-010	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421639.1		-	ENST00000561992.1	Missense_Mutation	SNP	18 : 53017618 - 53017618 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	295	42
UBB	7314	broad.mit.edu	37	17	16285438	16285438	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:16285438C>G	ENST00000395837.1	+	2	398	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Missense_Mutation_p.L73V|UBB_ENST00000535788.1_Missense_Mutation_p.L73V|UBB_ENST00000395839.1_Missense_Mutation_p.L73V	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	73	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGTCCTGCGTCTGAGAGGTGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(163;1126 3406 34901)							NA				0													64	64	64			NA	NA	17		NA											NA				16285438		2203	4297	6500	SO:0001583	missense				CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315	7314	7314			12463	protein-coding gene	gene with protein product	polyubiquitin B	191339			NA	2154095	Standard	NM_018955	NM_018955	NA	Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.217C>G	17.37:g.16285438C>G	ENSP00000379178:p.Leu73Val	NA	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	37	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999368	0.35226	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.05	4.05	0.47172	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.42420	U	0.000711	T	0.79347	0.4430	M	0.88181	2.935	0.80722	D	1	B	0.10296	0.003	B	0.20955	0.032	T	0.81180	-0.1050	10	0.87932	D	0	.	15.641	0.77001	0.0:1.0:0.0:0.0	.	73	P0CG47	UBB_HUMAN	V	73	ENSP00000304697:L73V;ENSP00000437475:L73V;ENSP00000379180:L73V;ENSP00000379178:L73V	ENSP00000304697:L73V	L	+	1	2	UBB	16226163	1.000000	0.71417	0.926000	0.36857	0.847000	0.48162	4.164000	0.58190	1.989000	0.58080	0.644000	0.83932	CTG	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130459.1		+	ENST00000395837.1	Missense_Mutation	SNP	17 : 16285438 - 16285438 G PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	518	57
UGP2	7360	broad.mit.edu	37	2	64117237	64117237	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:64117237T>C	ENST00000445915.2	+	9	1431	c.1364T>C	c.(1363-1365)tTt>tCt	p.F455S	UGP2_ENST00000394417.2_Missense_Mutation_p.F435S|UGP2_ENST00000337130.5_Missense_Mutation_p.F446S|UGP2_ENST00000467648.2_Missense_Mutation_p.F435S			Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	446					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CTAAGAAGATTTGAAAGTATA	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	79	78			NA	NA	2		NA											NA				64117237		2202	4300	6502	SO:0001583	missense				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	7360	7360	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	UDP-glucose pyrophosphorylase 1	UGP1	NA		Standard	NM_006759	NM_006759	NA	Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000445915.2:c.1364T>C	2.37:g.64117237T>C	ENSP00000411803:p.Phe455Ser	NA	Q07131|Q0P6K2|Q86Y81|Q9BU15	37		.	.	.	.	.	.	.	.	.	.	T	28.0	4.881893	0.91740	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.82	5.82	0.92795	.	0.044427	0.85682	D	0.000000	T	0.59514	0.2199	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72127	-0.4384	10	0.87932	D	0	-9.7442	16.1814	0.81903	0.0:0.0:0.0:1.0	.	455;446	E7EUC7;Q16851	.;UGPA_HUMAN	S	435;435;446;455	ENSP00000377939:F435S;ENSP00000420793:F435S;ENSP00000338703:F446S;ENSP00000411803:F455S	ENSP00000338703:F446S	F	+	2	0	UGP2	63970741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	TTT	UGP2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353860.2		+	ENST00000445915.2	Missense_Mutation	SNP	2 : 64117237 - 64117237 C PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	357	29
WWP2	11060	broad.mit.edu	37	16	69951707	69951707	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:69951707G>A	ENST00000359154.2	+	10	1201	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	WWP2_ENST00000356003.2_Missense_Mutation_p.R367H|WWP2_ENST00000448661.1_Missense_Mutation_p.R367H|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.R251H	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	367					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGTACGTGCGCAACTATGAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	58	60			NA	NA	16		NA											NA				69951707		2198	4300	6498	SO:0001583	missense			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373	11060	11060			16804	protein-coding gene	gene with protein product		602308			NA	9169421, 12167593	Standard	NM_007014	NM_007014	NA	Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1100G>A	16.37:g.69951707G>A	ENSP00000352069:p.Arg367His	NA	A6NEP1|B2R706|Q96CZ2|Q9BWN6	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217011	0.95104	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.34072	1.4;1.4;1.4;1.38	5.72	4.77	0.60923	.	0.102760	0.64402	D	0.000006	T	0.55641	0.1933	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.59825	0.864	T	0.59177	-0.7503	9	.	.	.	.	14.8283	0.70130	0.0689:0.0:0.9311:0.0	.	367	O00308	WWP2_HUMAN	H	367;367;367;254;251	ENSP00000352069:R367H;ENSP00000396871:R367H;ENSP00000348283:R367H;ENSP00000445616:R251H	.	R	+	2	0	WWP2	68509208	1.000000	0.71417	0.931000	0.37212	0.958000	0.62258	9.869000	0.99810	1.417000	0.47077	0.655000	0.94253	CGC	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268954.1		+	ENST00000359154.2	Missense_Mutation	SNP	16 : 69951707 - 69951707 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	306	5
XPO7	23039	broad.mit.edu	37	8	21846540	21846540	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:21846540G>A	ENST00000252512.9	+	16	1914	c.1814G>A	c.(1813-1815)cGt>cAt	p.R605H	XPO7_ENST00000433566.4_Missense_Mutation_p.R606H|XPO7_ENST00000434536.1_Missense_Mutation_p.R614H	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	605					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TACTGGGGCCGTTGTGAACCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	113	112			NA	NA	8		NA											NA				21846540		1900	4123	6023	SO:0001583	missense			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227	23039	23039		Exportins	14108	protein-coding gene	gene with protein product		606140	RAN binding protein 16	RANBP16	NA	11024021, 9872452	Standard	NM_015024	NM_015024	NA	Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1814G>A	8.37:g.21846540G>A	ENSP00000252512:p.Arg605His	NA	O94846|Q6PJK9|Q8NEK7	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390951	0.42410	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65916	-0.18;-0.18;-0.18	5.89	5.89	0.94794	Armadillo-type fold (1);	0.052693	0.85682	D	0.000000	T	0.50240	0.1604	N	0.16656	0.425	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.36359	-0.9751	10	0.37606	T	0.19	-10.0541	19.8455	0.96706	0.0:0.0:1.0:0.0	.	606;614;605	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	H	614;605;606	ENSP00000404853:R614H;ENSP00000252512:R605H;ENSP00000410249:R606H	ENSP00000252512:R605H	R	+	2	0	XPO7	21902486	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.327000	0.79147	2.800000	0.96347	0.650000	0.86243	CGT	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375494.1		+	ENST00000252512.9	Missense_Mutation	SNP	8 : 21846540 - 21846540 A PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	208	19
ZNF648	127665	broad.mit.edu	37	1	182027016	182027016	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:182027016C>T	ENST00000339948.3	-	2	337	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTCTTTTTCGGCCTCCCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(71;908 1374 5429 20458 35642)							NA				0													94	91	92			NA	NA	1		NA											NA				182027016		2203	4300	6503	SO:0001583	missense			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930	127665	127665		Zinc fingers, C2H2-type	18190	protein-coding gene	gene with protein product					NA		Standard	XM_060597	NM_001009992	NA	Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.130G>A	1.37:g.182027016C>T	ENSP00000344129:p.Glu44Lys	NA	B2RP16	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	5.419	0.262519	0.10294	.	.	ENSG00000179930	ENST00000339948	T	0.07114	3.22	2.76	0.83	0.18854	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	9	0.07813	T	0.8	.	9.5485	0.39295	0.0:0.782:0.0:0.218	.	44	Q5T619	ZN648_HUMAN	K	44	ENSP00000344129:E44K	ENSP00000344129:E44K	E	-	1	0	ZNF648	180293639	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.124000	0.10595	-0.031000	0.13781	-1.814000	0.00607	GAA	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090794.1		-	ENST00000339948.3	Missense_Mutation	SNP	1 : 182027016 - 182027016 T PAAD-TCGA-HZ-A77P-Tumor-SM-5437D	531	59
