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
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	470	7
ANKDD1A	348094	broad.mit.edu	37	15	65219105	65219105	+	Silent	SNP	G	G	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:65219105G>C	ENST00000380230.3	+	6	506	c.477G>C	c.(475-477)ggG>ggC	p.G159G	ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000395723.1_Silent_p.G68G|ANKDD1A_ENST00000496660.1_Silent_p.G68G|ANKDD1A_ENST00000357698.3_Silent_p.G159G|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Silent_p.G159G	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	159					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCAGCTGGGGAGGACGGCGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	100	103			NA	NA	15		NA											NA				65219105		2202	4299	6501	SO:0001819	synonymous_variant				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839	348094	348094		Ankyrin repeat domain containing	28002	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182703	NM_182703	NA	Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.477G>C	15.37:g.65219105G>C		NA	Q495B2|Q495B3|Q8N7A0|Q8NBS5	37	CCDS10197.2																																																																																			ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256705.2		+	ENST00000380230.3	Silent	SNP	15 : 65219105 - 65219105 C PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	540	98
ARHGAP22	58504	broad.mit.edu	37	10	49667870	49667870	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:49667870C>T	ENST00000249601.4	-	5	812	c.516G>A	c.(514-516)gcG>gcA	p.A172A	ARHGAP22_ENST00000435790.2_Silent_p.A178A|ARHGAP22_ENST00000374170.1_Silent_p.A82A|ARHGAP22_ENST00000374172.1_Silent_p.A63A|ARHGAP22_ENST00000417247.2_Silent_p.A82A|ARHGAP22_ENST00000417912.2_Silent_p.A188A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	172	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGCAGGGGCGCCAGGCGGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	51	50			NA	NA	10		NA											NA				49667870		2203	4300	6503	SO:0001819	synonymous_variant			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805	58504	58504		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	30320	protein-coding gene	gene with protein product		610585			NA	8619474	Standard	NM_021226	NM_021226	NA	Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.516G>A	10.37:g.49667870C>T		NA	A0AVP7|A5YM75|B9EGA0|O00152|Q6ZSB0	37	CCDS7227.1																																																																																			ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358767.1		-	ENST00000249601.4	Silent	SNP	10 : 49667870 - 49667870 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	388	71
BEST1	7439	broad.mit.edu	37	11	61730184	61730184	+	Missense_Mutation	SNP	G	G	A	rs61747600		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:61730184G>A	ENST00000534553.1	+	0	1197				BEST1_ENST00000378042.3_Missense_Mutation_p.D433N|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.D460N|BEST1_ENST00000301774.9_Missense_Mutation_p.D148N|BEST1_ENST00000378043.4_Missense_Mutation_p.D520N			O76090	BEST1_HUMAN	bestrophin 1	NA					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAGAGAGCGATGGGGCCTT	0.468		NA												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				61730184		2202	4299	6501	SO:0001624	3_prime_UTR_variant			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995	7439	7439		Ion channels / Chloride channels : Calcium activated : Bestrophins	12703	protein-coding gene	gene with protein product	Best disease	607854	vitelliform macular dystrophy 2	VMD2	NA	1302019, 17003041	Standard	NM_004183	NM_004183	NA	Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000534553.1:c.*453G>A	11.37:g.61730184G>A		NA	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	37		.	.	.	.	.	.	.	.	.	.	G	12.98	2.099498	0.37048	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	D;D;T;D	0.97404	-4.36;-4.1;-0.33;-4.37	5.34	1.03	0.20045	.	1.615380	0.03680	N	0.245331	D	0.90195	0.6935	N	0.14661	0.345	0.09310	N	0.999994	P;B;P	0.38370	0.628;0.355;0.628	B;B;B	0.24848	0.04;0.018;0.056	D	0.86624	0.1881	10	0.23891	T	0.37	-0.3632	4.8606	0.13581	0.2543:0.2983:0.4474:0.0	rs61747600	433;520;460	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	N	520;433;148;460	ENSP00000367282:D520N;ENSP00000367281:D433N;ENSP00000301774:D148N;ENSP00000399709:D460N	ENSP00000301774:D148N	D	+	1	0	BEST1	61486760	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.302000	0.19192	0.254000	0.21573	0.655000	0.94253	GAT	BEST1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394716.2		+	ENST00000534553.1	3'UTR	SNP	11 : 61730184 - 61730184 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	189	37
BRD2	6046	broad.mit.edu	37	6	32945220	32945220	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:32945220G>A	ENST00000374825.4	+	8	2903	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	BRD2_ENST00000374831.4_Splice_Site_p.R401Q|BRD2_ENST00000395289.2_Splice_Site_p.R401Q|BRD2_ENST00000449085.2_Splice_Site_p.R354Q|BRD2_ENST00000395287.1_Splice_Site_p.R401Q|BRD2_ENST00000443797.2_Splice_Site_p.R281Q	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	401	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTTCTGCAGCGGAAGATGGAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	185	197			NA	NA	6		NA											NA				32945220		1511	2709	4220	SO:0001630	splice_region_variant			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256	6046	6046			1103	protein-coding gene	gene with protein product		601540	bromodomain-containing 2		NA	1352711, 8781126	Standard		NM_005104	NA	Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1201-1G>A	6.37:g.32945220G>A		NA	B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q6P3U2|Q969U4	37	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.70|16.70	3.196084|3.196084	0.58126|0.58126	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.27402	.|1.67;1.67;1.67;1.67;1.67;1.67	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Bromodomain (5);Bromodomain, conserved site (1);	.|0.000000	.|0.45606	.|D	.|0.000343	T|T	0.06735|0.06735	0.0172|0.0172	N|N	0.16790|0.16790	0.44|0.44	0.58432|0.58432	D|D	0.999994|0.999994	.|P;B	.|0.38992	.|0.653;0.185	.|B;B	.|0.21708	.|0.036;0.012	T|T	0.13202|0.13202	-1.0518|-1.0518	5|10	.|0.33141	.|T	.|0.24	-13.4946|-13.4946	9.6958|9.6958	0.40156|0.40156	0.0911:0.0:0.9089:0.0|0.0911:0.0:0.9089:0.0	.|.	.|401;401	.|A2AAU0;P25440	.|.;BRD2_HUMAN	R|Q	407|401;401;401;281;401;354	.|ENSP00000363958:R401Q;ENSP00000363964:R401Q;ENSP00000378704:R401Q;ENSP00000413495:R281Q;ENSP00000378702:R401Q;ENSP00000409145:R354Q	.|ENSP00000363958:R401Q	G|R	+|+	1|2	0|0	BRD2|BRD2	33053198|33053198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.760000|1.760000	0.38430|0.38430	2.730000|2.730000	0.93505|0.93505	0.643000|0.643000	0.83706|0.83706	GGA|CGG	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076503.2	Missense_Mutation	+	ENST00000374825.4	Splice_Site	SNP	6 : 32945220 - 32945220 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	584	5
CACNA1B	774	broad.mit.edu	37	9	140968501	140968501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:140968501G>A	ENST00000371372.1	+	34	4985	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1612T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1615T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1613T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A808T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1614T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1614					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1614S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCATCTACGCCATCATCGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	NS(1)											116	122	120			NA	NA	9		NA											NA				140968501		2195	4298	6493	SO:0001583	missense			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	774	774		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1389	protein-coding gene	gene with protein product		601012		CACNL1A5	NA	8825650, 16382099	Standard	NM_000718	NM_000718	NA	Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4840G>A	9.37:g.140968501G>A	ENSP00000360423:p.Ala1614Thr	NA	B1AQK5	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	36	5.943318	0.97128	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99251	0.9739	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.99084	1.0838	10	0.87932	D	0	.	19.0507	0.93043	0.0:0.0:1.0:0.0	.	1613;1612	B1AQK7;B1AQK6	.;.	T	1614;1614;808;1612;1613;1615	ENSP00000360423:A1614T;ENSP00000277551:A1614T;ENSP00000277549:A808T;ENSP00000360414:A1612T;ENSP00000360408:A1613T;ENSP00000360406:A1615T	ENSP00000277549:A808T	A	+	1	0	CACNA1B	140088322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.584000	0.87258	0.561000	0.74099	GCC	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055380.1		+	ENST00000371372.1	Missense_Mutation	SNP	9 : 140968501 - 140968501 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	587	95
CCT3	7203	broad.mit.edu	37	1	156280946	156280946	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156280946C>T	ENST00000295688.3	-	12	1476	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	CCT3_ENST00000472765.2_Missense_Mutation_p.R354H|CCT3_ENST00000368259.2_Missense_Mutation_p.R361H|CCT3_ENST00000368261.3_Missense_Mutation_p.R354H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	399					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGAACATTGCGACACACTTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	1		NA											NA				156280946		2203	4300	6503	SO:0001583	missense			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468	7203	7203		Heat Shock Proteins / Chaperonins	1616	protein-coding gene	gene with protein product		600114		TRIC5	NA	8110840	Standard	NM_005998	NM_005998	NA	Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1196G>A	1.37:g.156280946C>T	ENSP00000295688:p.Arg399His	NA	Q5SZY1|Q9BR64	37	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.252956	0.95336	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.73708	0.96;0.981;0.972	D	0.94427	0.7646	10	0.72032	D	0.01	-9.7785	17.4945	0.87713	0.0:1.0:0.0:0.0	.	361;398;399	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	H	399;361;354;354	ENSP00000295688:R399H;ENSP00000357242:R361H;ENSP00000357244:R354H;ENSP00000431543:R354H	ENSP00000295688:R399H	R	-	2	0	CCT3	154547570	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.441000	0.80485	2.726000	0.93360	0.650000	0.86243	CGC	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060602.3		-	ENST00000295688.3	Missense_Mutation	SNP	1 : 156280946 - 156280946 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	367	44
CD207	50489	broad.mit.edu	37	2	71060828	71060828	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:71060828G>A	ENST00000410009.3	-	3	559	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	172					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGGAGTGCCCGGATCTTTGTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,3698		0,0,1849	82	73	75		514	4.1	0	2		75	1,8199		0,1,4099	no	missense	CD207	NM_015717.3	101	0,1,5948	AA,AG,GG	NA	0.0122,0.0,0.0084	probably-damaging	172/329	71060828	1,11897	1849	4100	5949	SO:0001583	missense			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031	50489	50489		C-type lectin domain containing, CD molecules	17935	protein-coding gene	gene with protein product		604862	CD207 antigen, langerin		NA	10661407, 9847074	Standard	NM_015717	NM_015717	NA	Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.514C>T	2.37:g.71060828G>A	ENSP00000386378:p.Arg172Trp	NA		37		.	.	.	.	.	.	.	.	.	.	G	6.526	0.465360	0.12402	0.0	1.22E-4	ENSG00000116031	ENST00000410009	T	0.29917	1.55	4.12	4.12	0.48240	.	1.382280	0.04510	N	0.382668	T	0.25568	0.0622	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	B	0.39590	0.304	T	0.32719	-0.9896	10	0.59425	D	0.04	.	12.1703	0.54155	0.0:0.0:1.0:0.0	.	172	Q9UJ71	CLC4K_HUMAN	W	172	ENSP00000386378:R172W	ENSP00000386378:R172W	R	-	1	2	CD207	70914336	0.043000	0.20138	0.029000	0.17559	0.004000	0.04260	1.111000	0.31159	2.568000	0.86640	0.655000	0.94253	CGG	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000329959.4		-	ENST00000410009.3	Missense_Mutation	SNP	2 : 71060828 - 71060828 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	262	50
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:21971186G>A	ENST00000479692.2	-	2	33	c.19C>T	c.(19-21)Cga>Tga	p.R7*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000304494.5_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	GRCh37	CM940227	CDKN2A	M	rs121913387						7	9	8			NA	NA	9		NA											NA				21971186		2034	4092	6126	SO:0001587	stop_gained			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.19C>T	9.37:g.21971186G>A	ENSP00000466887:p.Arg7*	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Nonsense_Mutation	SNP	9 : 21971186 - 21971186 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	65	10
CEP89	84902	broad.mit.edu	37	19	33406284	33406284	+	Silent	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:33406284G>T	ENST00000305768.5	-	14	1612	c.1524C>A	c.(1522-1524)atC>atA	p.I508I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	NA						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTTCCACTGCGATTTTGCCAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	106	110			NA	NA	19		NA											NA				33406284		2203	4300	6503	SO:0001819	synonymous_variant			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289	84902	84902			25907	protein-coding gene	gene with protein product		615470	coiled-coil domain containing 123	CCDC123	NA	16395595	Standard	NM_032816	NM_032816	NA	Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1524C>A	19.37:g.33406284G>T		NA	B9EGA6|Q8N5J8	37	CCDS32987.1																																																																																			CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451300.2		-	ENST00000305768.5	Silent	SNP	19 : 33406284 - 33406284 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	607	6
CXCR4	7852	broad.mit.edu	37	2	136873279	136873279	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:136873279C>T	ENST00000409817.1	-	1	534	c.231G>A	c.(229-231)acG>acA	p.T77T	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Silent_p.T73T	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	73					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.T77T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGTACTTGTCCGTCATGCTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											188	179	182			NA	NA	2		NA											NA				136873279		2203	4300	6503	SO:0001819	synonymous_variant			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966	NA	7852		CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif	2561	protein-coding gene	gene with protein product		162643	chemokine (C-X-C motif), receptor 4 (fusin)		NA	9599023, 9379028	Standard		NM_001008540	NA	Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000409817.1:c.231G>A	2.37:g.136873279C>T		NA	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	37	CCDS33295.1																																																																																			CXCR4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331734.1		-	ENST00000409817.1	Silent	SNP	2 : 136873279 - 136873279 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	469	84
DICER1	23405	broad.mit.edu	37	14	95590833	95590833	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:95590833C>T	ENST00000526495.1	-	10	1367	c.1076G>A	c.(1075-1077)tGt>tAt	p.C359Y	DICER1_ENST00000393063.1_Missense_Mutation_p.C359Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C359Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C359Y|DICER1_ENST00000343455.3_Missense_Mutation_p.C359Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	359	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTGCTCTTCACATAGTGCATG	0.373		NA	Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	dicer 1, ribonuclease type III 		E, M, O	0													139	141	141			NA	NA	14		NA											NA				95590833		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697	23405	23405			17098	protein-coding gene	gene with protein product	dicer 1, double-stranded RNA-specific endoribonuclease	606241	Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1	MNG1	NA	10051563, 10786632, 21205968	Standard		NM_177438	NA	Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1076G>A	14.37:g.95590833C>T	ENSP00000437256:p.Cys359Tyr	NA	A7E2D3|O95943|Q9UQ02	37	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387947	0.82902	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	M	0.63843	1.955	0.80722	D	1	D	0.60575	0.988	D	0.63192	0.912	T	0.50415	-0.8831	10	0.09338	T	0.73	-18.0875	19.4888	0.95042	0.0:1.0:0.0:0.0	.	359	Q9UPY3	DICER_HUMAN	Y	359	ENSP00000343745:C359Y;ENSP00000437256:C359Y;ENSP00000376783:C359Y;ENSP00000435681:C359Y;ENSP00000444719:C359Y	ENSP00000343745:C359Y	C	-	2	0	DICER1	94660586	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	7.267000	0.78462	2.607000	0.88179	0.585000	0.79938	TGT	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387997.1		-	ENST00000526495.1	Missense_Mutation	SNP	14 : 95590833 - 95590833 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	634	122
DSCAML1	57453	broad.mit.edu	37	11	117387332	117387332	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:117387332G>A	ENST00000321322.6	-	8	1814	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	DSCAML1_ENST00000527706.1_Silent_p.L335L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	545	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGTCTGGCAGCAGCAGGGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	76	82			NA	NA	11		NA											NA				117387332		2201	4296	6497	SO:0001819	synonymous_variant				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1813C>T	11.37:g.117387332G>A		NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1																																																																																			DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Silent	SNP	11 : 117387332 - 117387332 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	190	4
EMC10	284361	broad.mit.edu	37	19	50981234	50981234	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:50981234C>T	ENST00000376918.3	+	2	209	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	EMC10_ENST00000334976.6_Silent_p.L55L|EMC10_ENST00000598585.1_Silent_p.L55L	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10	NA											NA						GGTGGGGCTGCTGCTGGAGCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	107	109			NA	NA	19		NA											NA				50981234		2203	4300	6503	SO:0001819	synonymous_variant			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671	284361	284361			27609	protein-coding gene	gene with protein product	hematopoietic signal peptide-containing secreted 1, hematopoietic signal peptide-containing membrane domain-containing 1	614545	chromosome 19 open reading frame 63	C19orf63	NA	12975309, 22119785	Standard	NM_175063	NM_175063	NA	Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000376918.3:c.163C>T	19.37:g.50981234C>T		NA		37	CCDS42594.1																																																																																			EMC10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464761.1		+	ENST00000376918.3	Silent	SNP	19 : 50981234 - 50981234 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	62	12
ESPL1	9700	broad.mit.edu	37	12	53681786	53681786	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:53681786G>A	ENST00000257934.4	+	19	4298	c.4207G>A	c.(4207-4209)Gac>Aac	p.D1403N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1403					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGACTTGGAAGACCCTGTCTC	0.582		NA									OREG0021863	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		Colon(53;1069 1201 2587 5382)							NA				0													48	49	49			NA	NA	12		NA											NA				53681786		2196	4294	6490	SO:0001583	missense			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	9700	9700	3.4.22.49		16856	protein-coding gene	gene with protein product	separin, separase, separin, cysteine protease	604143	extra spindle poles like 1 (S. cerevisiae)		NA	8724849, 16258266	Standard	NM_012291	NM_012291	NA	Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4207G>A	12.37:g.53681786G>A	ENSP00000257934:p.Asp1403Asn	994		37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.645049	0.67358	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12039	2.72;2.72	5.8	5.8	0.92144	.	0.429106	0.26935	N	0.021758	T	0.19565	0.0470	M	0.67953	2.075	0.38567	D	0.949859	P	0.44734	0.842	B	0.40329	0.326	T	0.02743	-1.1116	10	0.34782	T	0.22	.	16.9805	0.86326	0.0:0.0:1.0:0.0	.	1403	Q14674	ESPL1_HUMAN	N	1403;1078;1403	ENSP00000257934:D1403N;ENSP00000449831:D1403N	ENSP00000257934:D1403N	D	+	1	0	ESPL1	51968053	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.401000	0.66326	2.751000	0.94390	0.650000	0.86243	GAC	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406899.2		+	ENST00000257934.4	Missense_Mutation	SNP	12 : 53681786 - 53681786 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	436	85
FAM83H	286077	broad.mit.edu	37	8	144812372	144812372	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:144812372C>T	ENST00000388913.3	-	2	506	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	127					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGCGGTGGCTGCACCAAGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	35	34			NA	NA	8		NA											NA				144812372		2015	4157	6172	SO:0001819	synonymous_variant			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921	286077	286077			24797	protein-coding gene	gene with protein product		611927			NA	18252228	Standard	NM_198488	NM_198488	NA	Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.381G>A	8.37:g.144812372C>T		NA	A0JLS2|Q8N4W0	37	CCDS6410.2																																																																																			FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257632.2		-	ENST00000388913.3	Silent	SNP	8 : 144812372 - 144812372 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	185	43
FMO5	2330	broad.mit.edu	37	1	146672844	146672844	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:146672844G>A	ENST00000254090.4	-	7	1461	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P358L|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	358						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CAGGTTAGGAGGGAAGACCTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	124	125			NA	NA	1		NA											NA				146672844		2203	4300	6503	SO:0001583	missense			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781	2330	2330			3773	protein-coding gene	gene with protein product		603957			NA	8786146, 9119381	Standard	NM_001461	NM_001461	NA	Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1073C>T	1.37:g.146672844G>A	ENSP00000254090:p.Pro358Leu	NA	B2RBG1	37	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	25.6	4.659505	0.88154	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.66815	-0.23;-0.23	6.17	6.17	0.99709	.	0.097121	0.64402	D	0.000001	T	0.81259	0.4785	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81786	-0.0773	10	0.72032	D	0.01	-16.718	18.3732	0.90420	0.0:0.0:1.0:0.0	.	358;358	P49326;C9JJD1	FMO5_HUMAN;.	L	358	ENSP00000416011:P358L;ENSP00000254090:P358L	ENSP00000254090:P358L	P	-	2	0	FMO5	145139468	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.828000	0.99408	2.941000	0.99782	0.655000	0.94253	CCT	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040373.2		-	ENST00000254090.4	Missense_Mutation	SNP	1 : 146672844 - 146672844 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	477	11
FOXF1	2294	broad.mit.edu	37	16	86544628	86544628	+	Silent	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:86544628C>A	ENST00000262426.4	+	1	496	c.453C>A	c.(451-453)ctC>ctA	p.L151L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	151					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCAGGCGCTCAAGCCCATGT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	52	49			NA	NA	16		NA											NA				86544628		2198	4298	6496	SO:0001819	synonymous_variant			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241	2294	2294		Forkhead boxes	3809	protein-coding gene	gene with protein product		601089		FKHL5	NA	8825632, 7957066	Standard	NM_001451	NM_001451	NA	Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.453C>A	16.37:g.86544628C>A		NA	B2RAF4|Q5FWE5	37	CCDS10957.2																																																																																			FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269103.2		+	ENST00000262426.4	Silent	SNP	16 : 86544628 - 86544628 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	435	6
GABPB2	126626	broad.mit.edu	37	1	151063024	151063024	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:151063024C>T	ENST00000368918.3	+	3	582	c.251C>T	c.(250-252)gCg>gTg	p.A84V	GABPB2_ENST00000368916.1_Missense_Mutation_p.A84V|GABPB2_ENST00000368917.1_Missense_Mutation_p.A84V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	84					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GATGGACATGCGCACATCGTG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	94	96			NA	NA	1		NA											NA				151063024		2203	4300	6503	SO:0001583	missense				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458	126626	126626		Ankyrin repeat domain containing	28441	protein-coding gene	gene with protein product					NA	7958862	Standard	NM_144618	NM_144618	NA	Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.251C>T	1.37:g.151063024C>T	ENSP00000357914:p.Ala84Val	NA	B1AVJ8|D3DV14|Q8NAR5	37	CCDS983.1	.	.	.	.	.	.	.	.	.	.	C	9.007	0.981617	0.18812	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.62498	0.02;0.02;0.02	5.46	3.31	0.37934	Ankyrin repeat-containing domain (4);	0.357560	0.33144	N	0.005223	T	0.11836	0.0288	N	0.03050	-0.425	0.09310	N	1	P;B	0.39404	0.672;0.126	B;B	0.20184	0.028;0.008	T	0.10428	-1.0630	10	0.33141	T	0.24	6.5452	9.7477	0.40457	0.0:0.8043:0.0:0.1957	.	100;84	B4DXA3;Q8TAK5	.;GABP2_HUMAN	V	84;84;100;84	ENSP00000357914:A84V;ENSP00000357913:A84V;ENSP00000357912:A84V	ENSP00000357912:A84V	A	+	2	0	GABPB2	149329648	0.001000	0.12720	0.005000	0.12908	0.348000	0.29142	1.370000	0.34238	0.664000	0.31047	0.650000	0.86243	GCG	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033700.2		+	ENST00000368918.3	Missense_Mutation	SNP	1 : 151063024 - 151063024 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	557	5
GAR1	54433	broad.mit.edu	37	4	110740164	110740164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:110740164C>A	ENST00000226796.6	+	4	641	c.377C>A	c.(376-378)tCa>tAa	p.S126*	GAR1_ENST00000394631.3_Nonsense_Mutation_p.S126*	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	126					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAGTATTTTTCAGTTAAGTTG	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	84	82			NA	NA	4		NA											NA				110740164		2202	4299	6501	SO:0001587	stop_gained			AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534	54433	54433			14264	protein-coding gene	gene with protein product		606468	nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs), GAR1 ribonucleoprotein homolog (yeast)	NOLA1	NA	10757788	Standard		XM_005263069	NA	Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.377C>A	4.37:g.110740164C>A	ENSP00000226796:p.Ser126*	NA	Q5MJQ2	37	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	C	38	7.040121	0.98021	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9407	0.92604	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	ENSP00000226796:S126X	S	+	2	0	GAR1	110959613	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.681000	0.74523	2.573000	0.86826	0.591000	0.81541	TCA	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363810.2		+	ENST00000226796.6	Nonsense_Mutation	SNP	4 : 110740164 - 110740164 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	403	10
HRNR	388697	broad.mit.edu	37	1	152192788	152192788	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:152192788G>A	ENST00000368801.2	-	3	1392	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	439					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGGAGCTGGGAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	97	96			NA	NA	1		NA											NA				152192788		2203	4300	6503	SO:0001819	synonymous_variant			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915	388697	388697		EF-hand domain containing	20846	protein-coding gene	gene with protein product	filaggrin family member 3				NA		Standard	XM_373868	NM_001009931	NA	Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1317C>T	1.37:g.152192788G>A		NA	Q5U1F4	37	CCDS30859.1																																																																																			HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034016.1		-	ENST00000368801.2	Silent	SNP	1 : 152192788 - 152192788 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	593	6
HYOU1	10525	broad.mit.edu	37	11	118919004	118919004	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:118919004C>T	ENST00000525859.1	-	20	2406	c.2146G>A	c.(2146-2148)Gca>Aca	p.A716T	HYOU1_ENST00000404233.3_Missense_Mutation_p.A778T|HYOU1_ENST00000529972.1_Missense_Mutation_p.A716T			Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	778						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CAGGTGGATGCGGCGCTGAGC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	86	87			NA	NA	11		NA											NA				118919004		2200	4295	6495	SO:0001583	missense			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428	10525	10525		Heat shock proteins / HSP70	16931	protein-coding gene	gene with protein product	glucose-regulated protein 170	601746			NA	9020069, 10037731	Standard	NM_006389	XM_005271390	NA	Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000525859.1:c.2146G>A	11.37:g.118919004C>T	ENSP00000433397:p.Ala716Thr	NA	Q2I204|Q53H25	37		.	.	.	.	.	.	.	.	.	.	C	6.079	0.382934	0.11524	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.14022	2.54;2.54;2.54	5.53	-0.593	0.11667	.	0.229106	0.44902	N	0.000409	T	0.08802	0.0218	L	0.37697	1.125	0.09310	N	0.999994	B;D;B;B	0.52996	0.104;0.957;0.023;0.023	B;B;B;B	0.43386	0.021;0.418;0.015;0.015	T	0.35549	-0.9784	10	0.06757	T	0.87	-4.1834	10.1432	0.42747	0.0:0.5981:0.0:0.4019	.	769;760;778;778	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	T	778;769;716;627;716;759	ENSP00000384144:A778T;ENSP00000437313:A716T;ENSP00000433397:A716T	ENSP00000278752:A769T	A	-	1	0	HYOU1	118424214	0.087000	0.21565	0.000000	0.03702	0.044000	0.14063	0.693000	0.25497	-0.257000	0.09459	-0.894000	0.02916	GCA	HYOU1-005	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000389359.1		-	ENST00000525859.1	Missense_Mutation	SNP	11 : 118919004 - 118919004 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	383	7
INSRR	3645	broad.mit.edu	37	1	156812204	156812204	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156812204G>A	ENST00000368195.3	-	18	3619	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1075	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTCAGGCCGCAAAGATCGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	101	100			NA	NA	1		NA											NA				156812204		2203	4300	6503	SO:0001583	missense			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644	3645	3645		Fibronectin type III domain containing	6093	protein-coding gene	gene with protein product		147671			NA	2768234, 2249481	Standard	NM_014215	NM_014215	NA	Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3223C>T	1.37:g.156812204G>A	ENSP00000357178:p.Arg1075Trp	NA	O60724|Q5VZS3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217532	0.58560	.	.	ENSG00000027644	ENST00000368195	D	0.89810	-2.57	4.58	-2.37	0.06643	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42548	D	0.000694	D	0.89602	0.6762	.	.	.	0.51012	D	0.9999	D	0.89917	1.0	P	0.56788	0.806	D	0.90761	0.4665	9	0.87932	D	0	.	15.295	0.73898	0.0:0.0:0.2005:0.7995	.	1075	P14616	INSRR_HUMAN	W	1075	ENSP00000357178:R1075W	ENSP00000357178:R1075W	R	-	1	2	INSRR	155078828	0.791000	0.28800	0.738000	0.30950	0.990000	0.78478	0.870000	0.28010	-0.175000	0.10725	-0.314000	0.08810	CGG	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098929.1		-	ENST00000368195.3	Missense_Mutation	SNP	1 : 156812204 - 156812204 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	574	6
KDELC2	143888	broad.mit.edu	37	11	108356954	108356954	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:108356954C>T	ENST00000434945.2	-	2	748	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q|KDELC2_ENST00000323468.5_Missense_Mutation_p.R205Q			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	205						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAAGATCTCCGGTAAACATG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	145	150			NA	NA	11		NA											NA				108356954		1845	4093	5938	SO:0001583	missense			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202	143888	143888			28496	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_153705	NM_153705	NA	Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000434945.2:c.446G>A	11.37:g.108356954C>T	ENSP00000413429:p.Arg149Gln	NA	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	37		.	.	.	.	.	.	.	.	.	.	C	27.1	4.800251	0.90538	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.23754	1.89;1.89;1.89	4.68	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.58842	-0.7565	10	0.31617	T	0.26	-17.0817	14.0815	0.64925	0.0:0.926:0.0:0.074	.	205;149	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	Q	205;149;149	ENSP00000315386:R205Q;ENSP00000413429:R149Q;ENSP00000364799:R149Q	ENSP00000315386:R205Q	R	-	2	0	KDELC2	107862164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.543000	0.82106	1.566000	0.49654	0.655000	0.94253	CGG	KDELC2-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000390274.1		-	ENST00000434945.2	Missense_Mutation	SNP	11 : 108356954 - 108356954 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	431	74
KLHL31	401265	broad.mit.edu	37	6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:53519025G>A	ENST00000407079.1	-	1	1045	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000370905.3_Missense_Mutation_p.T349M			Q9H511	KLH31_HUMAN	kelch-like family member 31	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCATTTCCGTAAGCTTGCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	100	102			NA	NA	6		NA											NA				53519025		2203	4300	6503	SO:0001583	missense				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743	401265	401265		Kelch-like, BTB/POZ domain containing	21353	protein-coding gene	gene with protein product		610749	kelch repeat and BTB (POZ) domain containing 1, kelch-like 31 (Drosophila)	KBTBD1	NA		Standard	NM_001003760	NM_001003760	NA	Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1046C>T	6.37:g.53519025G>A	ENSP00000384644:p.Thr349Met	NA	A6N9J2|B2RP49	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453374	0.63290	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68025	-0.3;-0.3	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.095468	0.64402	D	0.000001	T	0.75852	0.3906	M	0.82716	2.605	0.58432	D	0.999994	D	0.76494	0.999	P	0.57283	0.817	T	0.80621	-0.1301	10	0.87932	D	0	.	15.4902	0.75600	0.0:0.1482:0.8518:0.0	.	349	Q9H511	KLH31_HUMAN	M	349	ENSP00000359942:T349M;ENSP00000384644:T349M	ENSP00000359942:T349M	T	-	2	0	KLHL31	53626984	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.818000	0.86416	2.467000	0.83353	0.561000	0.74099	ACG	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040965.1		-	ENST00000407079.1	Missense_Mutation	SNP	6 : 53519025 - 53519025 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	421	6
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	rs17851045		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:25380275T>A	ENST00000311936.3	-	3	374	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)											109	98	102			NA	NA	12		NA											NA				25380275		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.183A>T	12.37:g.25380275T>A	ENSP00000308495:p.Gln61His	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243092	0.79912	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	rs17851045	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380275 - 25380275 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	406	84
LDHAL6B	92483	broad.mit.edu	37	15	59499545	59499545	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:59499545G>A	ENST00000307144.4	+	1	504	c.406G>A	c.(406-408)Gca>Aca	p.A136T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	136					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CTTTGTCACAGCAAACTCCAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	104	105			NA	NA	15		NA											NA				59499545		2191	4290	6481	SO:0001583	missense			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989	92483	92483			21481	protein-coding gene	gene with protein product			lactate dehydrogenase A-like 6	LDHAL6	NA	15870898	Standard	NM_033195	NM_033195	NA	Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.406G>A	15.37:g.59499545G>A	ENSP00000302393:p.Ala136Thr	NA	Q6DUY4|Q96LI2	37	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503507	0.64298	.	.	ENSG00000171989	ENST00000307144	D	0.88431	-2.38	1.47	1.47	0.22746	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000005	D	0.87051	0.6081	M	0.79693	2.465	0.53005	D	0.999961	P	0.39311	0.667	B	0.37943	0.261	D	0.85352	0.1102	10	0.62326	D	0.03	.	8.4578	0.32910	0.0:0.0:1.0:0.0	.	136	Q9BYZ2	LDH6B_HUMAN	T	136	ENSP00000302393:A136T	ENSP00000302393:A136T	A	+	1	0	LDHAL6B	57286837	1.000000	0.71417	0.083000	0.20561	0.047000	0.14425	6.111000	0.71541	0.784000	0.33661	0.305000	0.20034	GCA	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256015.1		+	ENST00000307144.4	Missense_Mutation	SNP	15 : 59499545 - 59499545 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	615	6
LIMK2	3985	broad.mit.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr22:31658176G>A	ENST00000331728.4	+	6	722	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H|LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	203	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGGGGACCGCATCCTGGAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	142	145			NA	NA	22		NA											NA				31658176		2203	4300	6503	SO:0001583	missense			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541	3985	3985			6614	protein-coding gene	gene with protein product		601988			NA	8537403, 10591208	Standard	NM_016733	NM_005569	NA	Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.608G>A	22.37:g.31658176G>A	ENSP00000332687:p.Arg203His	NA	A8K6H5|Q7KZ80|Q96E10|Q99464|Q9UFU0	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449939	0.84101	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.49778	1.585	0.80722	D	1	P;D;P;D	0.71674	0.844;0.96;0.871;0.998	B;P;P;P	0.61328	0.407;0.716;0.542;0.887	T	0.46541	-0.9184	10	0.72032	D	0.01	-19.1698	18.4111	0.90550	0.0:0.0:1.0:0.0	.	235;182;203;125	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	H	125;203;235;182;182	ENSP00000384602:R125H;ENSP00000332687:R203H;ENSP00000330470:R182H;ENSP00000339916:R182H	ENSP00000332687:R203H	R	+	2	0	LIMK2	29988176	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.632000	0.83247	2.588000	0.87417	0.655000	0.94253	CGC	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321911.1		+	ENST00000331728.4	Missense_Mutation	SNP	22 : 31658176 - 31658176 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	458	5
MGAM	8972	broad.mit.edu	37	7	141766505	141766505	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:141766505C>T	ENST00000475668.2	+	41	4957	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,1750		0,0,875	264	208	226			3	0.8	7		226	1,3897		0,1,1948	no	intron	MGAM	NM_004668.2		0,1,2823	TT,TC,CC	NA	0.0257,0.0,0.0177			141766505	1,5647	875	1949	2824	SO:0001583	missense			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335	8972	8972			7043	protein-coding gene	gene with protein product		154360			NA	9446624	Standard		NM_004668	NA	Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000475668.2:c.4903C>T	7.37:g.141766505C>T	ENSP00000417515:p.Arg1635Trp	NA	Q0VAX6|Q75ME7|Q86UM5	37		.	.	.	.	.	.	.	.	.	.	C	9.485	1.099228	0.20552	0.0	2.57E-4	ENSG00000257335	ENST00000475668;ENST00000548812	.	.	.	3.97	3.05	0.35203	.	.	.	.	.	T	0.67306	0.2879	.	.	.	0.37454	D	0.914923	.	.	.	.	.	.	T	0.73107	-0.4087	5	0.87932	D	0	.	11.5007	0.50435	0.1816:0.8183:0.0:0.0	.	.	.	.	W	1635;1512	.	ENSP00000316431:R1512W	R	+	1	2	MGAM	141412974	1.000000	0.71417	0.753000	0.31225	0.045000	0.14185	4.722000	0.61958	0.609000	0.30018	0.306000	0.20318	CGG	MGAM-007	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000351290.4		+	ENST00000475668.2	Missense_Mutation	SNP	7 : 141766505 - 141766505 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	669	6
MS4A3	932	broad.mit.edu	37	11	59837071	59837071	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59837071C>T	ENST00000278865.3	+	6	611	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	MS4A3_ENST00000358152.2_Missense_Mutation_p.L134F|MS4A3_ENST00000395032.2_Missense_Mutation_p.L57F|MS4A3_ENST00000534744.1_Missense_Mutation_p.L134F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	180						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACTGCTGATTCTCACCTTGCT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													274	253	260			NA	NA	11		NA											NA				59837071		2201	4295	6496	SO:0001583	missense			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516	932	932			7317	protein-coding gene	gene with protein product		606498		CD20L	NA	7524084	Standard		NM_006138	NA	Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.538C>T	11.37:g.59837071C>T	ENSP00000278865:p.Leu180Phe	NA	Q8NHW2	37	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	7.678	0.688406	0.14973	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	4.75	-0.38	0.12490	.	0.452259	0.22739	N	0.056237	T	0.01489	0.0048	N	0.20986	0.625	0.09310	N	1	B;P	0.38395	0.215;0.629	B;B	0.40199	0.097;0.322	T	0.40021	-0.9585	10	0.02654	T	1	-7.6657	7.4388	0.27171	0.0:0.5146:0.0:0.4854	.	134;180	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	F	57;134;180;134	ENSP00000378473:L57F;ENSP00000350872:L134F;ENSP00000278865:L180F;ENSP00000434117:L134F	ENSP00000278865:L180F	L	+	1	0	MS4A3	59593647	0.108000	0.22018	0.003000	0.11579	0.108000	0.19459	-0.073000	0.11468	-0.246000	0.09611	0.643000	0.83706	CTC	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394417.1		+	ENST00000278865.3	Missense_Mutation	SNP	11 : 59837071 - 59837071 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	754	14
MYBPH	4608	broad.mit.edu	37	1	203138179	203138179	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138179G>A	ENST00000255416.4	-	9	1329	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ATTTGGGGTTGCCCTGGATCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(32;174 1025 14462 23899 42933)							NA				0													96	99	98			NA	NA	1		NA											NA				203138179		2203	4300	6503	SO:0001819	synonymous_variant			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055	4608	4608		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7552	protein-coding gene	gene with protein product		160795	myosin-binding protein H		NA	8486381	Standard	NM_004997	NM_004997	NA	Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1272C>T	1.37:g.203138179G>A		NA	Q16886|Q86YC5	37	CCDS30975.1																																																																																			MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100264.1		-	ENST00000255416.4	Silent	SNP	1 : 203138179 - 203138179 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	734	85
MYBPH	4608	broad.mit.edu	37	1	203138180	203138180	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138180C>T	ENST00000255416.4	-	9	1328	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TTTGGGGTTGCCCTGGATCTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(32;174 1025 14462 23899 42933)							NA				0													96	99	98			NA	NA	1		NA											NA				203138180		2203	4300	6503	SO:0001583	missense			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055	4608	4608		Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7552	protein-coding gene	gene with protein product		160795	myosin-binding protein H		NA	8486381	Standard	NM_004997	NM_004997	NA	Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1271G>A	1.37:g.203138180C>T	ENSP00000255416:p.Gly424Asp	NA	Q16886|Q86YC5	37	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072135	0.20147	.	.	ENSG00000133055	ENST00000255416	T	0.66099	-0.19	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000083	T	0.33294	0.0858	N	0.04724	-0.175	0.44155	D	0.996955	B	0.23377	0.084	B	0.26614	0.071	T	0.35549	-0.9784	10	0.02654	T	1	.	6.983	0.24713	0.0:0.7879:0.0:0.2121	.	424	Q13203	MYBPH_HUMAN	D	424	ENSP00000255416:G424D	ENSP00000255416:G424D	G	-	2	0	MYBPH	201404803	1.000000	0.71417	0.947000	0.38551	0.879000	0.50718	5.802000	0.69122	2.492000	0.84095	0.655000	0.94253	GGC	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100264.1		-	ENST00000255416.4	Missense_Mutation	SNP	1 : 203138180 - 203138180 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	721	84
NDEL1	81565	broad.mit.edu	37	17	8370257	8370257	+	Missense_Mutation	SNP	C	C	T	rs138863036	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:8370257C>T	ENST00000380025.4	+	8	960	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000334527.7_Silent_p.N318N|NDEL1_ENST00000402554.3_3'UTR			Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	0	Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						GGGCAGTAAACGGCTTTGACC	0.537		NA											C	5	0.0023	0.01	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0023	1	LOWCOV,EXOME	NA	NA	0.0015	SNP								NA				0								C	,	6,4400	11.4+/-27.6	0,6,2197	123	117	119		,954	-0.2	1	17	dbSNP_134	119	0,8600		0,0,4300	no	utr-3,coding-synonymous	NDEL1	NM_001025579.1,NM_030808.3	,	0,6,6497	TT,TC,CC	NA	0.0,0.1362,0.0461	,	,318/346	8370257	6,13000	2203	4300	6503	SO:0001583	missense			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579	81565	81565			17620	protein-coding gene	gene with protein product		607538	nudE nuclear distribution gene E homolog (A. nidulans)-like 1, nudE nuclear distribution E homolog (A. nidulans)-like 1		NA	11163260, 11163259	Standard	NM_030808	NM_001025579	NA	Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000380025.4:c.802C>T	17.37:g.8370257C>T	ENSP00000369364:p.Arg268Trp	NA	B3KP93|D3DTS0|Q86T80|Q8TAR7|Q9UH50	37																																																																																				NDEL1-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000442478.1		+	ENST00000380025.4	Missense_Mutation	SNP	17 : 8370257 - 8370257 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	369	56
NEB	4703	broad.mit.edu	37	2	152466350	152466350	+	Silent	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:152466350T>C	ENST00000604864.1	-	79	12302	c.12303A>G	c.(12301-12303)gcA>gcG	p.A4101A	NEB_ENST00000427231.2_Silent_p.A4101A|NEB_ENST00000409198.1_Silent_p.A3858A|NEB_ENST00000603639.1_Silent_p.A4101A|NEB_ENST00000397345.3_Silent_p.A4101A|NEB_ENST00000172853.10_Silent_p.A3858A			P20929	NEBU_HUMAN	nebulin	4100					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCCTTTTTTGCTTGGATAA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													210	197	201			NA	NA	2		NA											NA				152466350		1952	4143	6095	SO:0001819	synonymous_variant			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.12303A>G	2.37:g.152466350T>C		NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1																																																																																			NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1		-	ENST00000604864.1	Silent	SNP	2 : 152466350 - 152466350 C PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	766	143
NLK	51701	broad.mit.edu	37	17	26495642	26495642	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:26495642G>A	ENST00000407008.3	+	6	1724	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	336	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGAACTACTAGGACGAAGAAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	125	126			NA	NA	17		NA											NA				26495642		2203	4300	6503	SO:0001583	missense			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095	51701	51701			29858	protein-coding gene	gene with protein product		609476	nemo like kinase		NA	9448268, 10863097	Standard	NM_016231	NM_016231	NA	Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1006G>A	17.37:g.26495642G>A	ENSP00000384625:p.Gly336Arg	NA	B2RCX1|Q2PNI9|Q6P2A3	37	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200775	0.79015	.	.	ENSG00000087095	ENST00000407008	T	0.41758	0.99	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	N	0.12920	0.275	0.80722	D	1	B	0.26081	0.141	B	0.35353	0.201	T	0.22556	-1.0213	10	0.56958	D	0.05	-13.0763	19.6516	0.95815	0.0:0.0:1.0:0.0	.	336	Q9UBE8	NLK_HUMAN	R	336	ENSP00000384625:G336R	ENSP00000384625:G336R	G	+	1	0	NLK	23519769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GGA	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255607.3		+	ENST00000407008.3	Missense_Mutation	SNP	17 : 26495642 - 26495642 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	371	76
NLRP13	126204	broad.mit.edu	37	19	56416346	56416346	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:56416346C>T	ENST00000588751.1	-	8	2604	c.2580G>A	c.(2578-2580)gcG>gcA	p.A860A	NLRP13_ENST00000342929.3_Silent_p.A860A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	860							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGTCAGGGCCGCACACAATA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	125	101	109		2580	-4.4	0	19		109	0,8600		0,0,4300	no	coding-synonymous	NLRP13	NM_176810.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		860/1044	56416346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572	126204	126204		Nucleotide-binding domain and leucine rich repeat containing	22937	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13	609660	NACHT, leucine rich repeat and PYD containing 13	NALP13	NA	12563287	Standard	NM_176810	NM_176810	NA	Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000588751.1:c.2580G>A	19.37:g.56416346C>T		NA	Q7RTR5	37																																																																																				NLRP13-003	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000457461.1		-	ENST00000588751.1	Silent	SNP	19 : 56416346 - 56416346 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	179	38
NPAS3	64067	broad.mit.edu	37	14	34269465	34269465	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:34269465A>T	ENST00000346562.2	+	11	1930	c.1856A>T	c.(1855-1857)gAg>gTg	p.E619V	NPAS3_ENST00000548645.1_Missense_Mutation_p.E621V|NPAS3_ENST00000357798.5_Missense_Mutation_p.E638V|NPAS3_ENST00000551492.1_Missense_Mutation_p.E656V|NPAS3_ENST00000356141.4_Missense_Mutation_p.E651V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATCAAGACGGAGATCTCAGAA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	59	59			NA	NA	14		NA											NA				34269465		2203	4300	6503	SO:0001583	missense			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322	64067	64067		Basic helix-loop-helix proteins	19311	protein-coding gene	gene with protein product		609430			NA		Standard		NM_022123	NA	Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000346562.2:c.1856A>T	14.37:g.34269465A>T	ENSP00000319610:p.Glu619Val	NA	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	37	CCDS9645.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362475	0.61403	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.72167	-0.63;2.95;2.97;2.97;2.95;2.82	5.07	5.07	0.68467	.	0.135165	0.50627	D	0.000116	T	0.75488	0.3856	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.80764	0.994;0.987;0.994;0.994	T	0.79055	-0.1960	10	0.72032	D	0.01	.	14.8262	0.70113	1.0:0.0:0.0:0.0	.	621;651;619;638	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	V	625;656;619;621;651;638	ENSP00000448373:E625V;ENSP00000450392:E656V;ENSP00000319610:E619V;ENSP00000448916:E621V;ENSP00000348460:E651V;ENSP00000350446:E638V	ENSP00000319610:E619V	E	+	2	0	NPAS3	33339216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.019000	0.93662	1.887000	0.54652	0.454000	0.30748	GAG	NPAS3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276644.1		+	ENST00000346562.2	Missense_Mutation	SNP	14 : 34269465 - 34269465 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	209	39
OR1J2	26740	broad.mit.edu	37	9	125273336	125273336	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:125273336C>T	ENST00000335302.5	+	1	256	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GATGGACATGCGGACTAAGTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	157	169			NA	NA	9		NA											NA				125273336		2203	4300	6503	SO:0001583	missense				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233	26740	26740		GPCR / Class A : Olfactory receptors	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5	NA		Standard		XM_005251920	NA	Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.256C>T	9.37:g.125273336C>T	ENSP00000335575:p.Arg86Trp	NA	A3KFL9|Q6IF14|Q96R90|Q9NZP1	37	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649512	0.29336	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01963	4.53	4.71	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.410669	0.17409	U	0.175258	T	0.01254	0.0041	N	0.02830	-0.485	0.20821	N	0.999849	B	0.02656	0.0	B	0.04013	0.001	T	0.46978	-0.9152	10	0.54805	T	0.06	.	8.7949	0.34874	0.0:0.7496:0.0:0.2504	.	86	Q8NGS2	OR1J2_HUMAN	W	86	ENSP00000335575:R86W	ENSP00000335575:R86W	R	+	1	2	OR1J2	124313157	0.000000	0.05858	0.273000	0.24645	0.016000	0.09150	-1.634000	0.02020	1.232000	0.43678	0.650000	0.86243	CGG	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053932.1		+	ENST00000335302.5	Missense_Mutation	SNP	9 : 125273336 - 125273336 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	526	6
OR2M5	127059	broad.mit.edu	37	1	248309316	248309316	+	Silent	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:248309316C>A	ENST00000366476.1	+	1	867	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCCCCTCATCTACAGCCTCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	85			NA	NA	1		NA											NA				248309316		2203	4300	6503	SO:0001819	synonymous_variant				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727	127059	127059		GPCR / Class A : Olfactory receptors	19576	protein-coding gene	gene with protein product				OR2M5P	NA		Standard	NM_001004690	NM_001004690	NA	Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.867C>A	1.37:g.248309316C>A		NA		37	CCDS31105.1																																																																																			OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097343.1		+	ENST00000366476.1	Silent	SNP	1 : 248309316 - 248309316 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	772	108
OR5A1	219982	broad.mit.edu	37	11	59211572	59211572	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59211572A>G	ENST00000302030.2	+	1	956	c.931A>G	c.(931-933)Aag>Gag	p.K311E		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGAAAGGAAGAAAGTGTT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	148	148			NA	NA	11		NA											NA				59211572		2201	4295	6496	SO:0001583	missense			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320	219982	219982		GPCR / Class A : Olfactory receptors	8319	protein-coding gene	gene with protein product				OR5A1P	NA		Standard	NM_001004728	NM_001004728	NA	Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.931A>G	11.37:g.59211572A>G	ENSP00000303096:p.Lys311Glu	NA	B9EH58|Q6IFF2|Q96RB1	37	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	A	7.443	0.641062	0.14386	.	.	ENSG00000172320	ENST00000302030	T	0.39406	1.08	5.02	2.68	0.31781	.	0.762345	0.11693	N	0.538628	T	0.25901	0.0631	L	0.28115	0.83	0.09310	N	1	P	0.37122	0.583	B	0.30646	0.118	T	0.09930	-1.0652	10	0.52906	T	0.07	-1.0631	6.7823	0.23652	0.8103:0.0:0.1897:0.0	.	311	Q8NGJ0	OR5A1_HUMAN	E	311	ENSP00000303096:K311E	ENSP00000303096:K311E	K	+	1	0	OR5A1	58968148	0.998000	0.40836	0.001000	0.08648	0.222000	0.24845	4.557000	0.60782	0.351000	0.24027	0.528000	0.53228	AAG	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394233.1		+	ENST00000302030.2	Missense_Mutation	SNP	11 : 59211572 - 59211572 G PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	630	116
PLRG1	5356	broad.mit.edu	37	4	155458483	155458483	+	Silent	SNP	A	A	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:155458483A>C	ENST00000499023.2	-	14	1566	c.1440T>G	c.(1438-1440)gcT>gcG	p.A480A	PLRG1_ENST00000393905.2_Silent_p.A480A|PLRG1_ENST00000302078.5_Silent_p.A471A	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	480						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TATCAGCTTCAGCTGTTAGTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	108	109			NA	NA	4		NA											NA				155458483		2203	4300	6503	SO:0001819	synonymous_variant			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566	5356	5356		WD repeat domain containing	9089	protein-coding gene	gene with protein product	transport and golgi organization 4 homolog (Drosophila)	605961	pleiotropic regulator 1 (PRL1, Arabidopsis homolog), pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)		NA		Standard	NM_002669	NM_002669	NA	Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1440T>G	4.37:g.155458483A>C		NA	B3KMK4|Q3KQY5|Q8WUD8	37	CCDS34083.1																																																																																			PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364824.1		-	ENST00000499023.2	Silent	SNP	4 : 155458483 - 155458483 C PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	370	60
PRG4	10216	broad.mit.edu	37	1	186269304	186269304	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:186269304A>C	ENST00000445192.2	+	3	203	c.158A>C	c.(157-159)tAc>tCc	p.Y53S	PRG4_ENST00000367486.3_Missense_Mutation_p.Y53S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.Y53S|PRG4_ENST00000367483.4_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	53	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGTCAACACTACATGGAGTGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	161	164			NA	NA	1		NA											NA				186269304		2203	4300	6503	SO:0001583	missense			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690	10216	10216			9364	protein-coding gene	gene with protein product	lubricin, megakaryocyte stimulating factor, articular superficial zone protein, Jacobs camptodactyly-arthropathy-pericarditis syndrome, camptodactyly, arthropathy, coxa vara, pericarditis syndrome, bG174L6.2 (MSF: megakaryocyte stimulating factor )	604283	proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)	CACP	NA	10545950, 9920774	Standard	NM_005807	NM_005807	NA	Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.158A>C	1.37:g.186269304A>C	ENSP00000399679:p.Tyr53Ser	NA	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862154	0.32884	.	.	ENSG00000116690	ENST00000367486;ENST00000367485;ENST00000445192	T;T;T	0.42900	0.96;0.96;0.96	5.57	4.38	0.52667	Somatomedin B domain (4);	0.178558	0.27122	N	0.020830	T	0.59074	0.2167	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.62248	-0.6894	10	0.87932	D	0	-5.8319	9.7406	0.40416	0.7331:0.0:0.0:0.2669	.	53;53	Q92954-3;Q92954	.;PRG4_HUMAN	S	53	ENSP00000356456:Y53S;ENSP00000356455:Y53S;ENSP00000399679:Y53S	ENSP00000356455:Y53S	Y	+	2	0	PRG4	184535927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.078000	0.41567	2.117000	0.64856	0.528000	0.53228	TAC	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086346.1		+	ENST00000445192.2	Missense_Mutation	SNP	1 : 186269304 - 186269304 C PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	980	119
PRTFDC1	56952	broad.mit.edu	37	10	25226219	25226219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:25226219delC	ENST00000320152.6	-	3	261	c.233delG	c.(232-234)ggtfs	p.G78fs	PRTFDC1_ENST00000376376.3_Frame_Shift_Del_p.G78fs|PRTFDC1_ENST00000376378.1_Frame_Shift_Del_p.G78fs	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	78					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						GAATTTGTAACCTCCTTTAAG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	137	139			NA	NA	10		NA											NA				25226219		2203	4300	6503	SO:0001589	frameshift_variant			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256	56952	56952			23333	protein-coding gene	gene with protein product		610751			NA		Standard	NM_020200	XM_005252537	NA	Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.233delG	10.37:g.25226219delC	ENSP00000318602:p.Gly78fs	NA	B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	37	CCDS7145.1																																																																																			PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047243.2		-	ENST00000320152.6	Frame_Shift_Del	DEL	10 : 25226219 - 25226219 - PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	317	86
RIMS2	9699	broad.mit.edu	37	8	105026833	105026833	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:105026833G>A	ENST00000436393.2	+	17	2785	c.2544G>A	c.(2542-2544)acG>acA	p.T848T	RIMS2_ENST00000507740.1_Silent_p.T922T|RIMS2_ENST00000406091.3_Silent_p.T1108T|RIMS2_ENST00000262231.10_Silent_p.T947T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1170	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGGGAACGTTGGATAGAA	0.438		NA								HNSCC(12;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	74	74			NA	NA	8		NA											NA				105026833		1895	4110	6005	SO:0001819	synonymous_variant			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14			9699	9699			17283	protein-coding gene	gene with protein product		606630	RAB3 interacting protein 3	RAB3IP3	NA	9872452, 12578829	Standard	NM_001100117	NM_014677	NA	Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2544G>A	8.37:g.105026833G>A		NA	O43413|Q86XL9|Q8IWV9|Q8IWW1	37																																																																																				RIMS2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367217.1		+	ENST00000436393.2	Silent	SNP	8 : 105026833 - 105026833 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	256	51
RNF40	9810	broad.mit.edu	37	16	30778186	30778186	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:30778186A>G	ENST00000563683.1	+	10	1408	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	RNF40_ENST00000357890.5_Missense_Mutation_p.N373S|RNF40_ENST00000402121.3_Missense_Mutation_p.N165S|RNF40_ENST00000324685.6_Missense_Mutation_p.N473S			O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	473					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGGCGGCCAACGAGCAGGCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	43	49			NA	NA	16		NA											NA				30778186		2197	4300	6497	SO:0001583	missense			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549	9810	9810		RING-type (C3HC4) zinc fingers	16867	protein-coding gene	gene with protein product	BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)	607700	ring finger protein 40		NA	9734811, 10944455, 12121982	Standard	NM_014771	NM_014771	NA	Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000563683.1:c.1298A>G	16.37:g.30778186A>G	ENSP00000455180:p.Asn433Ser	NA	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	37		.	.	.	.	.	.	.	.	.	.	A	27.1	4.804399	0.90623	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.26957	1.7;1.7;1.7	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.71674	0.977;0.998;0.995;0.995	P;D;D;D	0.69654	0.883;0.919;0.965;0.939	T	0.62096	-0.6926	10	0.72032	D	0.01	-18.9766	15.0705	0.72034	1.0:0.0:0.0:0.0	.	165;373;473;473	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	S	473;373;165	ENSP00000325677:N473S;ENSP00000350563:N373S;ENSP00000384942:N165S	ENSP00000325677:N473S	N	+	2	0	RNF40	30685687	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.711000	0.91396	2.199000	0.70637	0.533000	0.62120	AAC	RNF40-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000434279.1		+	ENST00000563683.1	Missense_Mutation	SNP	16 : 30778186 - 30778186 G PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	132	17
SKOR1	390598	broad.mit.edu	37	15	68119541	68119541	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:68119541A>T	ENST00000380035.2	+	2	1433	c.1375A>T	c.(1375-1377)Atg>Ttg	p.M459L	SKOR1_ENST00000554054.1_Missense_Mutation_p.M431L|SKOR1_ENST00000389002.1_Missense_Mutation_p.M415L|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554240.1_Missense_Mutation_p.M420L			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	459					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						cggcggcgccATGTTCTGGGG	0.781		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	9	8			NA	NA	15		NA											NA				68119541		1492	3045	4537	SO:0001583	missense				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779	390598	390598		SKI transcriptional corepressors	21326	protein-coding gene	gene with protein product	transcriptional corepressor CORL1, functional smad suppressing element 15, corepressor for LBX1	611273	Lbxcor1 homolog (mouse)	LBXCOR1	NA	15528197	Standard	NM_001031807	NM_001258024	NA	Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1375A>T	15.37:g.68119541A>T	ENSP00000369374:p.Met459Leu	NA	A6NIP4|A6NJY0|Q2VWA5	37		.	.	.	.	.	.	.	.	.	.	A	0.342	-0.949874	0.02285	.	.	ENSG00000188779	ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	3.71	2.58	0.30949	.	0.635877	0.15898	N	0.239206	T	0.07324	0.0185	N	0.08118	0	0.20764	N	0.999856	P	0.36048	0.534	B	0.37346	0.247	T	0.32877	-0.9890	10	0.11485	T	0.65	-2.9782	5.7861	0.18334	0.8762:0.0:0.1238:0.0	.	415	P84550-3	.	L	420;431;459;415	ENSP00000451193:M420L;ENSP00000452361:M431L;ENSP00000369374:M459L;ENSP00000373654:M415L	ENSP00000369374:M459L	M	+	1	0	SKOR1	65906595	0.795000	0.28851	0.803000	0.32268	0.150000	0.21749	0.810000	0.27183	0.493000	0.27837	-0.543000	0.04237	ATG	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000410832.1		+	ENST00000380035.2	Missense_Mutation	SNP	15 : 68119541 - 68119541 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	88	17
SLC6A9	6536	broad.mit.edu	37	1	44463241	44463241	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463241G>A	ENST00000372307.3	-	11	1669				SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372310.3_Silent_p.S626S|SLC6A9_ENST00000360584.2_Silent_p.S699S|SLC6A9_ENST00000357730.2_Silent_p.S645S|SLC6A9_ENST00000475075.2_Silent_p.S515S			P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	NA						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCTGGAGGCGGCTGGAGCCAT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	62	59			NA	NA	1		NA											NA				44463241		2202	4300	6502	SO:0001627	intron_variant			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517	6536	6536		Solute carriers	11056	protein-coding gene	gene with protein product		601019			NA	8183239, 7587377	Standard	NM_201649	NM_006934	NA	Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372307.3:c.1341+3197C>T	1.37:g.44463241G>A		NA	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	37																																																																																				SLC6A9-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386657.1		-	ENST00000372307.3	Intron	SNP	1 : 44463241 - 44463241 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	568	6
SLC6A9	6536	broad.mit.edu	37	1	44463406	44463406	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463406C>A	ENST00000372307.3	-	11	1669				SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372310.3_Missense_Mutation_p.L571F|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L644F|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L590F|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L460F			P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	NA						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGCATTTTTCAAACGCTGCA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	103	98			NA	NA	1		NA											NA				44463406		2203	4300	6503	SO:0001627	intron_variant			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517	6536	6536		Solute carriers	11056	protein-coding gene	gene with protein product		601019			NA	8183239, 7587377	Standard	NM_201649	NM_006934	NA	Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372307.3:c.1341+3032G>T	1.37:g.44463406C>A		NA	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	37		.	.	.	.	.	.	.	.	.	.	C	14.48	2.547710	0.45383	.	.	ENSG00000196517	ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730	T;T;T;T	0.75821	-0.9;-0.95;-0.97;-0.93	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.75817	0.3901	L	0.40543	1.245	0.80722	D	1	D;B;B;D	0.65815	0.986;0.251;0.063;0.995	P;B;B;P	0.57425	0.655;0.098;0.073;0.82	T	0.75975	-0.3128	10	0.49607	T	0.09	.	11.4173	0.49960	0.0:0.9164:0.0:0.0836	.	575;571;590;644	B7Z3W8;P48067-2;P48067-3;P48067	.;.;.;SC6A9_HUMAN	F	571;460;644;590	ENSP00000361384:L571F;ENSP00000434460:L460F;ENSP00000353791:L644F;ENSP00000350362:L590F	ENSP00000350362:L590F	L	-	3	2	SLC6A9	44235993	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.373000	0.59537	2.553000	0.86117	0.609000	0.83330	TTG	SLC6A9-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386657.1		-	ENST00000372307.3	Intron	SNP	1 : 44463406 - 44463406 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	597	7
SLCO3A1	28232	broad.mit.edu	37	15	92690367	92690367	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:92690367C>T	ENST00000424469.2	+	8	1719	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000318445.6_Missense_Mutation_p.P556S	NM_001145044.1	NP_001138516.1	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	556					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCACAGACACCCTCAGTCAT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	104	112			NA	NA	15		NA											NA				92690367		2198	4298	6496	SO:0001583	missense			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463	28232	28232		Solute carriers	10952	protein-coding gene	gene with protein product		612435	solute carrier family 21 (organic anion transporter), member 11	SLC21A11	NA		Standard	NM_013272	NM_001145044	NA	Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000424469.2:c.1666C>T	15.37:g.92690367C>T	ENSP00000387846:p.Pro556Ser	NA	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	37	CCDS45354.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978773	0.74360	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.42131	0.98;0.98	6.03	6.03	0.97812	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.56798	-0.7919	10	0.31617	T	0.26	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	498;556;556	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	S	556;556;275	ENSP00000320634:P556S;ENSP00000387846:P556S	ENSP00000320634:P556S	P	+	1	0	SLCO3A1	90491371	1.000000	0.71417	0.972000	0.41901	0.765000	0.43378	7.305000	0.78891	2.861000	0.98227	0.655000	0.94253	CCC	SLCO3A1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414816.1		+	ENST00000424469.2	Missense_Mutation	SNP	15 : 92690367 - 92690367 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	409	77
SLX4	84464	broad.mit.edu	37	16	3639154	3639154	+	Silent	SNP	C	C	T	rs140872903		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:3639154C>T	ENST00000294008.3	-	12	5125	c.4485G>A	c.(4483-4485)gcG>gcA	p.A1495A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1495	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCAGGGAGCCCGCGCCCGAGG	0.647		NA						Direct reversal of damage						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	89	84			NA	NA	16		NA											NA				3639154		2197	4300	6497	SO:0001819	synonymous_variant			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827	84464	84464		Fanconi anemia, complementation groups, BTB/POZ domain containing	23845	protein-coding gene	gene with protein product	Fanconi anemia, complementation group P	613278	BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)	BTBD12	NA	11347906, 19595721	Standard	NM_032444	NM_032444	NA	Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4485G>A	16.37:g.3639154C>T		NA	Q69YT8|Q8TF15|Q96JP1	37	CCDS10506.2																																																																																			SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157301.3		-	ENST00000294008.3	Silent	SNP	16 : 3639154 - 3639154 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	889	171
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544317G>A	ENST00000437304.2	-	16	2259				SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S	NM_001145673.1	NP_001139145.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	NA						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(153;41 2433 9491 36028)							NA				1	Substitution - Missense(1)	prostate(1)											141	161	154			NA	NA	4		NA											NA				186544317		2203	4300	6503	SO:0001627	intron_variant				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556	8470	8470			24098	protein-coding gene	gene with protein product	Arg/Abl interacting protein				NA	9211900, 9872452	Standard	NM_003603	NM_021069	NA	Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000437304.2:c.1676-3012C>T	4.37:g.186544317G>A		NA	A6NEK9|D3DP62|D3DP63|O60592|O60593|Q96EX0	37	CCDS47175.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG	SORBS2-009	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347952.2		-	ENST00000437304.2	Intron	SNP	4 : 186544317 - 186544317 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	908	7
SPHKAP	80309	broad.mit.edu	37	2	228860288	228860288	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:228860288G>A	ENST00000392056.3	-	8	4617	c.4571C>T	c.(4570-4572)gCc>gTc	p.A1524V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1524V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1524						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCCTCATTGGCAAGCTGGGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													187	159	168			NA	NA	2		NA											NA				228860288		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4571C>T	2.37:g.228860288G>A	ENSP00000375909:p.Ala1524Val	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664572	0.47572	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13901	2.55;2.56	6.06	4.04	0.47022	.	0.287377	0.39020	N	0.001482	T	0.14227	0.0344	L	0.49126	1.545	0.43292	D	0.995273	B;P	0.42908	0.18;0.793	B;B	0.39971	0.044;0.315	T	0.02596	-1.1136	10	0.48119	T	0.1	.	11.0015	0.47609	0.1936:0.0:0.8064:0.0	.	1524;1524	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	1524	ENSP00000375909:A1524V;ENSP00000339886:A1524V	ENSP00000339886:A1524V	A	-	2	0	SPHKAP	228568532	1.000000	0.71417	0.908000	0.35775	0.542000	0.35054	2.352000	0.44080	1.570000	0.49709	0.655000	0.94253	GCC	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228860288 - 228860288 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	580	7
STAB2	55576	broad.mit.edu	37	12	104147083	104147083	+	Silent	SNP	C	C	T	rs139125034		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:104147083C>T	ENST00000388887.2	+	61	6870	c.6666C>T	c.(6664-6666)aaC>aaT	p.N2222N	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2222	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGTGCCAACGAAGCTGCGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	102	87	92		6666	-10	0	12	dbSNP_134	92	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous	STAB2	NM_017564.9		0,4,6499	TT,TC,CC	NA	0.0465,0.0,0.0308		2222/2552	104147083	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011	55576	55576			18629	protein-coding gene	gene with protein product	hyaluronic acid receptor for endocytosis	608561			NA	11829752, 12077138	Standard		XR_429107	NA	Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6666C>T	12.37:g.104147083C>T		NA	Q6ZMK2|Q7Z5N9|Q86UR4|Q8IUG9|Q8TES1|Q9H7H7|Q9NRY3	37	CCDS31888.1																																																																																			STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407089.1		+	ENST00000388887.2	Silent	SNP	12 : 104147083 - 104147083 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	266	51
STK11	6794	broad.mit.edu	37	19	1207092	1207092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:1207092delC	ENST00000326873.7	+	1	1353	c.180delC	c.(178-180)tacfs	p.Y60fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCTCTTACGGCAAGGTGA	0.622		14	D, Mis, N, F, S		NSCLC, pancreatic	jejunal harmartoma, ovarian, testicular, pancreatic			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		E, M, O	28	Whole gene deletion(20)|Deletion - Frameshift(4)|Substitution - Nonsense(2)|Unknown(2)	cervix(15)|lung(8)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	GRCh37	CD064644|CM981863|CM991149	STK11	D|M							42	46	45			NA	NA	19		NA											NA				1207092		2088	4198	6286	SO:0001589	frameshift_variant	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046	6794	6794			11389	protein-coding gene	gene with protein product	polarization-related protein LKB1	602216	serine/threonine kinase 11 (Peutz-Jeghers syndrome)		NA	9425897	Standard	NM_000455	XM_005259617	NA	Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.180delC	19.37:g.1207092delC	ENSP00000324856:p.Tyr60fs	NA	B2RBX7|E7EW76	37	CCDS45896.1																																																																																			STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449839.3		+	ENST00000326873.7	Frame_Shift_Del	DEL	19 : 1207092 - 1207092 - PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	169	65
SV2A	9900	broad.mit.edu	37	1	149882423	149882423	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:149882423C>T	ENST00000369146.3	-	4	1400	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	SV2A_ENST00000369145.1_Missense_Mutation_p.G304S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	304					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGTACACGCCACCAATCATC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	60	61			NA	NA	1		NA											NA				149882423		2203	4300	6503	SO:0001583	missense			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164	NA	9900			20566	protein-coding gene	gene with protein product		185860			NA	7681585, 10611374	Standard		NM_014849	NA	Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.910G>A	1.37:g.149882423C>T	ENSP00000358142:p.Gly304Ser	NA	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	37	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232995	0.95207	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.74106	-0.81;-0.81	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	L	0.52905	1.665	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	T	0.71613	-0.4540	10	0.19147	T	0.46	-14.7314	15.8174	0.78615	0.0:1.0:0.0:0.0	.	304	Q7L0J3	SV2A_HUMAN	S	304	ENSP00000358142:G304S;ENSP00000358141:G304S	ENSP00000358141:G304S	G	-	1	0	SV2A	148149047	1.000000	0.71417	0.976000	0.42696	0.963000	0.63663	7.651000	0.83577	2.591000	0.87537	0.585000	0.79938	GGC	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033754.1		-	ENST00000369146.3	Missense_Mutation	SNP	1 : 149882423 - 149882423 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	294	52
TAS2R20	259295	broad.mit.edu	37	12	11149731	11149731	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:11149731C>T	ENST00000538986.1	-	1	743	c.744G>A	c.(742-744)tcG>tcA	p.S248S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	248					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AATTCCAAAACGATATGATTA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	116	116			NA	NA	12		NA											NA				11149731		2203	4300	6503	SO:0001819	synonymous_variant			AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837	259295	259295		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	19109	protein-coding gene	gene with protein product		613962	taste receptor, type 2, member 49	TAS2R49	NA		Standard	NM_176889	NM_176889	NA	Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.744G>A	12.37:g.11149731C>T		NA	P59549|Q2HIZ4|Q496D8|Q645X9	37	CCDS8639.1																																																																																			TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370130.2		-	ENST00000538986.1	Silent	SNP	12 : 11149731 - 11149731 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	448	80
TBC1D3F	84218	broad.mit.edu	37	17	36288204	36288204	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:36288204G>T	ENST00000505415.1	+	5	1044	c.290G>T	c.(289-291)cGa>cTa	p.R97L	TBC1D3F_ENST00000539424.1_Missense_Mutation_p.R17L|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.R97L|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.R97L			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	97						intracellular	Rab GTPase activator activity	p.R97Q(1)|p.R97L(1)		liver(1)|pancreas(1)	2						CTCATAGATCGAGCGTACAAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(1)|endometrium(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense					17q12	2014-09-16				ENSG00000275954	84218	84218			18257	protein-coding gene	gene with protein product		610809			NA	16863688	Standard	NM_032258.2	NM_032258	NA	Approved			A6NER0	OTTHUMG00000188428	ENST00000505415.1:c.290G>T	17.37:g.36288204G>T	ENSP00000421962:p.Arg97Leu	NA		37		.	.	.	.	.	.	.	.	.	.	g	10.29	1.309800	0.23821	.	.	ENSG00000185128	ENST00000327454;ENST00000378174;ENST00000505415;ENST00000539424	T;T;T;T	0.03330	3.97;3.97;3.97;3.97	.	.	.	Rab-GAP/TBC domain (2);	0.212784	0.34460	U	0.003960	T	0.05547	0.0146	M	0.79614	2.46	0.39492	D	0.968062	B;B;B;B	0.19935	0.007;0.04;0.001;0.004	B;B;B;B	0.19148	0.024;0.011;0.007;0.002	T	0.15723	-1.0427	9	0.48119	T	0.1	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	97;97;97;97	B9A6J9;A6NFD7;P0C7X1;A6NER0	.;.;TBC3H_HUMAN;TBC3F_HUMAN	L	97;97;97;17	ENSP00000329256:R97L;ENSP00000367416:R97L;ENSP00000421962:R97L;ENSP00000443859:R17L	ENSP00000329256:R97L	R	+	2	0	TBC1D3F	33362586	1.000000	0.71417	0.076000	0.20297	0.076000	0.17211	3.336000	0.52113	0.119000	0.18210	0.121000	0.15741	CGA	TBC1D3F-002	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000256101.4		+	ENST00000505415.1	Missense_Mutation	SNP	17 : 36288204 - 36288204 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	1633	10
TBCB	1155	broad.mit.edu	37	19	36616597	36616597	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:36616597C>T	ENST00000589996.1	+	0	641				TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000585746.1_Silent_p.C165C|TBCB_ENST00000221855.3_Silent_p.C216C			Q99426	TBCB_HUMAN	tubulin folding cofactor B	NA					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	p.C216C(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTTCGAATGCCAGGCCAAGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											260	251	254			NA	NA	19		NA											NA				36616597		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254	1155	1155			1989	protein-coding gene	gene with protein product		601303	cytoskeleton-associated protein 1, cytoskeleton associated protein 1	CKAP1	NA	8978778	Standard	NM_001281	NM_001281	NA	Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000589996.1:c.*23C>T	19.37:g.36616597C>T		NA	O00111|O00674|O14728	37																																																																																				TBCB-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000457449.1		+	ENST00000589996.1	3'UTR	SNP	19 : 36616597 - 36616597 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	1059	8
TEX37	200523	broad.mit.edu	37	2	88828905	88828905	+	Silent	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:88828905A>G	ENST00000303254.3	+	4	598	c.456A>G	c.(454-456)ctA>ctG	p.L152L		NM_152670.2	NP_689883.1			testis expressed 37	NA											NA						GCTACCTGCTACTGCCAGGGT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	84	86			NA	NA	2		NA											NA				88828905		2203	4300	6503	SO:0001819	synonymous_variant			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073	200523	200523			26341	protein-coding gene	gene with protein product	Testis-Specific Conserved gene 21kDa		chromosome 2 open reading frame 51	C2orf51	NA	17091336	Standard	NM_152670	NM_152670	NA	Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.456A>G	2.37:g.88828905A>G		NA		37	CCDS2003.1																																																																																			TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252682.1		+	ENST00000303254.3	Silent	SNP	2 : 88828905 - 88828905 G PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	272	65
TNC	3371	broad.mit.edu	37	9	117846677	117846677	+	Missense_Mutation	SNP	G	G	A	rs149181557	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117846677G>A	ENST00000341037.4	-	3	2070	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	TNC_ENST00000346706.3_Missense_Mutation_p.R648W|TNC_ENST00000542877.1_Missense_Mutation_p.R648W|TNC_ENST00000345230.3_Missense_Mutation_p.R648W|TNC_ENST00000350763.4_Missense_Mutation_p.R648W|TNC_ENST00000537320.1_Missense_Mutation_p.R648W|TNC_ENST00000340094.3_Missense_Mutation_p.R648W|TNC_ENST00000535648.1_Missense_Mutation_p.R648W|TNC_ENST00000423613.2_Missense_Mutation_p.R648W			P24821	TENA_HUMAN	tenascin C	648	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTGTGACCCGCATCTCATTG	0.562		NA											G	2	9e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	9e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								G	TRP/ARG	0,4406		0,0,2203	161	145	150		1942	3.9	1	9	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TNC	NM_002160.3	101	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	648/2202	117846677	2,13004	2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.1942C>T	9.37:g.117846677G>A	ENSP00000339553:p.Arg648Trp	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	19.75	3.885200	0.72410	0.0	2.33E-4	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57595	3.61;0.39;3.61;0.39;0.39;0.39;0.39;0.39;0.39	5.93	3.91	0.45181	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.343669	0.29459	N	0.012097	T	0.67420	0.2891	M	0.64404	1.975	0.38978	D	0.958897	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.72228	-0.4354	10	0.66056	D	0.02	.	12.0794	0.53662	0.0:0.1008:0.6328:0.2664	.	648;648	E9PC84;P24821	.;TENA_HUMAN	W	648	ENSP00000344400:R648W;ENSP00000438152:R648W;ENSP00000344555:R648W;ENSP00000345861:R648W;ENSP00000265131:R648W;ENSP00000339553:R648W;ENSP00000411406:R648W;ENSP00000443478:R648W;ENSP00000442242:R648W	ENSP00000344400:R648W	R	-	1	2	TNC	116886498	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.409000	0.34680	1.470000	0.48102	0.655000	0.94253	CGG	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117846677 - 117846677 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	378	73
TNFAIP3	7128	broad.mit.edu	37	6	138199962	138199962	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:138199962C>T	ENST00000237289.4	+	7	1446	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	460	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.P450fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCATTCGGCCCCACCGACAG	0.642		NA	D, N, F		marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	tumor necrosis factor, alpha-induced protein 3		L	26	Whole gene deletion(25)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(26)											24	27	26			NA	NA	6		NA											NA				138199962		2203	4300	6503	SO:0001819	synonymous_variant			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503	7128	7128		OTU domain containing	11896	protein-coding gene	gene with protein product		191163			NA	2118515	Standard		NM_006290	NA	Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1380C>T	6.37:g.138199962C>T		NA	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	37	CCDS5187.1																																																																																			TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042414.1		+	ENST00000237289.4	Silent	SNP	6 : 138199962 - 138199962 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	219	32
TNS3	64759	broad.mit.edu	37	7	47407972	47407972	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:47407972G>A	ENST00000398879.1	-	17	2637	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T			Q68CZ2	TENS3_HUMAN	tensin 3	757						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,3952		0,0,1976	93	106	102		2271	-7.5	0	7		102	1,8307		0,1,4153	no	coding-synonymous	TNS3	NM_022748.11		0,1,6129	AA,AG,GG	NA	0.012,0.0,0.0082		757/1446	47407972	1,12259	1976	4154	6130	SO:0001819	synonymous_variant			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	64759	64759		SH2 domain containing	21616	protein-coding gene	gene with protein product	tumor endothelial marker 6	606825	tensin-like SH2 domain-containing 1	TENS1	NA	11559528	Standard	NM_022748	NM_022748	NA	Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2271C>T	7.37:g.47407972G>A		NA	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	37	CCDS5506.2																																																																																			TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157253.1		-	ENST00000398879.1	Silent	SNP	7 : 47407972 - 47407972 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	787	6
TTC13	79573	broad.mit.edu	37	1	231044752	231044752	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:231044752G>A	ENST00000366661.4	-	21	2331	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L	TTC13_ENST00000414259.1_Missense_Mutation_p.S722L|TTC13_ENST00000366662.4_Missense_Mutation_p.S721L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	775							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CACGATGACCGAGTAAGCAAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	124	123			NA	NA	1		NA											NA				231044752		2203	4300	6503	SO:0001583	missense				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643	79573	79573		Tetratricopeptide (TTC) repeat domain containing	26204	protein-coding gene	gene with protein product					NA		Standard	NM_024525	NM_024525	NA	Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2324C>T	1.37:g.231044752G>A	ENSP00000355621:p.Ser775Leu	NA	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262382	0.59431	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.42900	0.96;1.0;1.0	5.53	5.53	0.82687	.	0.063181	0.64402	D	0.000003	T	0.30324	0.0761	N	0.25647	0.755	0.80722	D	1	B;P;P;P	0.50066	0.343;0.76;0.846;0.931	B;B;B;B	0.34652	0.009;0.122;0.187;0.184	T	0.11372	-1.0590	10	0.40728	T	0.16	-11.9623	19.4529	0.94875	0.0:0.0:1.0:0.0	.	700;722;721;775	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	L	775;721;722	ENSP00000355621:S775L;ENSP00000355622:S721L;ENSP00000416631:S722L	ENSP00000355621:S775L	S	-	2	0	TTC13	229111375	1.000000	0.71417	0.972000	0.41901	0.954000	0.61252	8.920000	0.92779	2.595000	0.87683	0.655000	0.94253	TCG	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092229.2		-	ENST00000366661.4	Missense_Mutation	SNP	1 : 231044752 - 231044752 A PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	724	81
USH2A	7399	broad.mit.edu	37	1	216495296	216495296	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:216495296C>T	ENST00000307340.3	-	9	1959	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	USH2A_ENST00000366942.3_Missense_Mutation_p.D525N|USH2A_ENST00000366943.2_Missense_Mutation_p.D525N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	525	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGCAGTTATCGGCATGACCA	0.443		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	152	135	141		1573,1573	-0.1	0	1		141	1,8599		0,1,4299	no	missense,missense	USH2A	NM_007123.5,NM_206933.2	23,23	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	525/1547,525/5203	216495296	1,13005	2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1573G>A	1.37:g.216495296C>T	ENSP00000305941:p.Asp525Asn	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803455	0.31869	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.63417	-0.04;-0.04;-0.04	5.65	-0.114	0.13564	EGF-like, laminin (3);	0.531595	0.15476	N	0.260375	T	0.42517	0.1206	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.20368	0.021;0.044	B;B	0.14023	0.009;0.01	T	0.24728	-1.0152	10	0.37606	T	0.19	.	8.3498	0.32295	0.0:0.6291:0.1083:0.2626	.	525;525	O75445-2;O75445	.;USH2A_HUMAN	N	525	ENSP00000305941:D525N;ENSP00000355910:D525N;ENSP00000355909:D525N	ENSP00000305941:D525N	D	-	1	0	USH2A	214561919	0.100000	0.21855	0.000000	0.03702	0.160000	0.22226	1.178000	0.31981	0.053000	0.16036	0.557000	0.71058	GAT	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 216495296 - 216495296 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	466	53
WAPAL	23063	broad.mit.edu	37	10	88260206	88260206	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:88260206T>G	ENST00000298767.5	-	3	1266	c.794A>C	c.(793-795)gAt>gCt	p.D265A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	265	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAAATCGTCATCCTTCATCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	80	81			NA	NA	10		NA											NA				88260206		2203	4300	6503	SO:0001583	missense			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650	23063	23063			23293	protein-coding gene	gene with protein product	friend of EBNA2	610754	KIAA0261	KIAA0261	NA	9039502, 17112726	Standard	NM_015045	XM_006717726	NA	Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.794A>C	10.37:g.88260206T>G	ENSP00000298767:p.Asp265Ala	NA	A7E2B5|Q5VSK5|Q8IX10|Q92549	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441746	0.25900	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.47528	0.84	5.77	3.4	0.38934	.	0.535917	0.20186	N	0.097418	T	0.35740	0.0942	L	0.34521	1.04	0.80722	D	1	B;B;B	0.22683	0.043;0.043;0.073	B;B;B	0.21151	0.01;0.01;0.033	T	0.23404	-1.0189	10	0.72032	D	0.01	.	9.4528	0.38736	0.0:0.1534:0.0:0.8466	.	265;265;308	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	A	350;265;350	ENSP00000298767:D265A	ENSP00000298767:D265A	D	-	2	0	WAPAL	88250186	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.613000	0.36900	0.996000	0.38943	0.528000	0.53228	GAT	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049151.2		-	ENST00000298767.5	Missense_Mutation	SNP	10 : 88260206 - 88260206 G PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	358	84
ZDHHC2	51201	broad.mit.edu	37	8	17067927	17067927	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:17067927C>T	ENST00000262096.8	+	10	1583	c.888C>T	c.(886-888)tgC>tgT	p.C296C		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	296						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TTCCAACTTGCCTTGTTAACC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	75			NA	NA	8		NA											NA				17067927		1833	4105	5938	SO:0001819	synonymous_variant			AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219	51201	51201		Zinc fingers, DHHC-type	18469	protein-coding gene	gene with protein product					NA	10918388	Standard	NM_016353	NM_016353	NA	Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.888C>T	8.37:g.17067927C>T		NA	D3DSP5	37	CCDS47810.1																																																																																			ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376014.2		+	ENST00000262096.8	Silent	SNP	8 : 17067927 - 17067927 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	161	4
ZNF181	339318	broad.mit.edu	37	19	35232318	35232318	+	Silent	SNP	T	T	G	rs2607243		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:35232318T>G	ENST00000392232.3	+	6	1332	c.1164T>G	c.(1162-1164)acT>acG	p.T388T	ZNF181_ENST00000459757.2_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	19		NA											NA				35232318		2203	4300	6503	SO:0001819	synonymous_variant			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841	339318	339318		Zinc fingers, C2H2-type, -	12971	protein-coding gene	gene with protein product		606741	zinc finger protein 181 (HHZ181)		NA		Standard	NM_001029997	NM_001029997	NA	Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000392232.3:c.1164T>G	19.37:g.35232318T>G		NA	Q49A75	37																																																																																				ZNF181-001	KNOWN	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000349004.2		+	ENST00000392232.3	Silent	SNP	19 : 35232318 - 35232318 G PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	276	7
ZNF7	7553	broad.mit.edu	37	8	146067242	146067242	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:146067242C>T	ENST00000529819.1	+	0	404				ZNF7_ENST00000446747.2_Silent_p.Y261Y|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000528372.1_Silent_p.Y250Y|ZNF7_ENST00000325241.6_Silent_p.Y250Y|ZNF7_ENST00000544249.1_Silent_p.Y154Y			P17097	ZNF7_HUMAN	zinc finger protein 7	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAAGCCGTACGAATGTGCAG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	79	79	79		750	-1.4	0	8		79	0,8600		0,0,4300	no	coding-synonymous	ZNF7	NM_003416.2		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		250/687	146067242	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789	7553	7553		Zinc fingers, C2H2-type, -	13139	protein-coding gene	gene with protein product		194531	zinc finger protein 7 (KOX 4, clone HF.16)		NA	2106481, 1946370	Standard	NM_003416	NM_003416	NA	Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000529819.1:c.*22C>T	8.37:g.146067242C>T		NA	D3DWN6|P17015	37																																																																																				ZNF7-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382657.1		+	ENST00000529819.1	3'UTR	SNP	8 : 146067242 - 146067242 T PAAD-TCGA-HZ-A8P0-Tumor-SM-5KWXW	367	87
