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
ACTC1	70	broad.mit.edu	37	15	35084689	35084689	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr15:35084689C>T	ENST00000290378.4	-	4	1191	c.536G>A	c.(535-537)cGt>cAt	p.R179H	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	179					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGATCCAGACGCATGATGGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	132	139			NA	NA	15		NA											NA				35084689		2201	4298	6499	SO:0001583	missense			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251	70	70			143	protein-coding gene	gene with protein product		102540	actin, alpha, cardiac muscle	ACTC	NA	1639426	Standard	NM_005159	NM_005159	NA	Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.536G>A	15.37:g.35084689C>T	ENSP00000290378:p.Arg179His	NA	P04270	37	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.167082	0.57476	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94966	-3.57	4.99	4.99	0.66335	.	0.000000	0.53938	U	0.000042	D	0.96225	0.8769	M	0.81682	2.555	0.80722	D	1	D	0.53462	0.96	P	0.52267	0.694	D	0.96705	0.9521	10	0.87932	D	0	.	18.8258	0.92117	0.0:1.0:0.0:0.0	.	179	P68032	ACTC_HUMAN	H	179;144	ENSP00000290378:R179H	ENSP00000290378:R179H	R	-	2	0	ACTC1	32871981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.499000	0.81566	2.755000	0.94549	0.591000	0.81541	CGT	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251876.3		-	ENST00000290378.4	Missense_Mutation	SNP	15 : 35084689 - 35084689 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	502	123
ADAMTS16	170690	broad.mit.edu	37	5	5303737	5303737	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:5303737G>A	ENST00000274181.7	+	20	3182	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1015	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCTGTAAGAGCACCAACCCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	58	54			NA	NA	5		NA											NA				5303737		2164	4263	6427	SO:0001583	missense			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536	170690	170690		ADAM metallopeptidases with thrombospondin type 1 motif	17108	protein-coding gene	gene with protein product		607510	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16		NA	11867212	Standard	NM_139056	NM_139056	NA	Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3044G>A	5.37:g.5303737G>A	ENSP00000274181:p.Ser1015Asn	NA	C6G490|Q8IVE2	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689063	0.68271	.	.	ENSG00000145536	ENST00000274181	T	0.55234	0.53	4.65	3.78	0.43462	.	0.049330	0.85682	D	0.000000	T	0.45236	0.1332	L	0.40543	1.245	0.38037	D	0.93534	B;P	0.35033	0.241;0.481	B;B	0.41088	0.244;0.347	T	0.36696	-0.9737	10	0.17832	T	0.49	.	10.7639	0.46281	0.0945:0.0:0.9055:0.0	.	1015;1015	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	N	1015	ENSP00000274181:S1015N	ENSP00000274181:S1015N	S	+	2	0	ADAMTS16	5356737	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.713000	0.54882	1.069000	0.40788	0.650000	0.86243	AGC	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365657.1		+	ENST00000274181.7	Missense_Mutation	SNP	5 : 5303737 - 5303737 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	245	10
AFF2	2334	broad.mit.edu	37	X	148037698	148037698	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrX:148037698G>A	ENST00000370460.2	+	11	2602	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	AFF2_ENST00000370457.5_Missense_Mutation_p.R675Q|AFF2_ENST00000286437.5_Missense_Mutation_p.R349Q|AFF2_ENST00000342251.3_Missense_Mutation_p.R675Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	708					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGTCTCGGGAATTCATT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	97	96			NA	NA	X		NA											NA				148037698		2203	4300	6503	SO:0001583	missense			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966	2334	2334			3776	protein-coding gene	gene with protein product		300806	fragile X mental retardation 2	FMR2	NA		Standard	NM_002025	NM_002025	NA	Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2123G>A	X.37:g.148037698G>A	ENSP00000359489:p.Arg708Gln	NA	A2RTY4|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537272	0.85812	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.67	5.67	0.87782	.	0.059861	0.64402	D	0.000016	D	0.82669	0.5087	M	0.79926	2.475	0.42293	D	0.992149	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.71414	0.973;0.954;0.954;0.954;0.954;0.973	T	0.83078	-0.0139	10	0.42905	T	0.14	.	18.7499	0.91810	0.0:0.0:1.0:0.0	.	349;673;675;669;698;708	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	708;675;675;349	ENSP00000359489:R708Q;ENSP00000359486:R675Q;ENSP00000345459:R675Q;ENSP00000286437:R349Q	ENSP00000286437:R349Q	R	+	2	0	AFF2	147845398	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.672000	0.68102	2.372000	0.80975	0.600000	0.82982	CGG	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058673.2		+	ENST00000370460.2	Missense_Mutation	SNP	X : 148037698 - 148037698 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	153	258
ARSI	340075	broad.mit.edu	37	5	149677192	149677192	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:149677192C>T	ENST00000328668.7	-	2	1874	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	432						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCCATAGCCGGGGTCTCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	37	36			NA	NA	5		NA											NA				149677192		2203	4300	6503	SO:0001583	missense			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876	340075	340075		Arylsulfatase family	32521	protein-coding gene	gene with protein product		610009	arylsulfatase I		NA	16174644, 24482476	Standard	NM_001012301	NM_001012301	NA	Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1295G>A	5.37:g.149677192C>T	ENSP00000333395:p.Gly432Asp	NA	A1L3B0|B3KV22|B7XD03	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481846	0.63849	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.98313	-4.86;-4.86	4.45	4.45	0.53987	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97760	1.0220	10	0.27785	T	0.31	.	17.2703	0.87099	0.0:1.0:0.0:0.0	.	432	Q5FYB1	ARSI_HUMAN	D	432;289	ENSP00000333395:G432D;ENSP00000426879:G289D	ENSP00000333395:G432D	G	-	2	0	ARSI	149657385	1.000000	0.71417	0.899000	0.35326	0.734000	0.41952	7.320000	0.79064	2.296000	0.77279	0.561000	0.74099	GGC	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373681.1		-	ENST00000328668.7	Missense_Mutation	SNP	5 : 149677192 - 149677192 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	408	149
B3GALT2	8707	broad.mit.edu	37	1	193150555	193150555	+	Missense_Mutation	SNP	A	A	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:193150555A>C	ENST00000367434.4	-	2	893	c.138T>G	c.(136-138)caT>caG	p.H46Q	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	46					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GCAGCCAGTCATGATGATTGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	91			NA	NA	1		NA											NA				193150555		2203	4300	6503	SO:0001583	missense			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630	8707	8707		Beta 3-glycosyltransferases	917	protein-coding gene	gene with protein product		603018			NA	9582303, 9417100	Standard	NM_003783	NM_003783	NA	Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.138T>G	1.37:g.193150555A>C	ENSP00000356404:p.His46Gln	NA	B2RAB1|Q9BZQ9	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.246213	0.01481	.	.	ENSG00000162630	ENST00000367434	T	0.34859	1.34	5.25	-1.75	0.08031	.	0.253868	0.42294	N	0.000722	T	0.12305	0.0299	N	0.03608	-0.345	0.39789	D	0.972407	B	0.06786	0.001	B	0.04013	0.001	T	0.09662	-1.0664	10	0.24483	T	0.36	.	6.4842	0.22079	0.4727:0.0:0.4067:0.1206	.	46	O43825	B3GT2_HUMAN	Q	46	ENSP00000356404:H46Q	ENSP00000356404:H46Q	H	-	3	2	B3GALT2	191417178	0.028000	0.19301	0.996000	0.52242	0.117000	0.20001	-0.633000	0.05483	-0.242000	0.09667	0.533000	0.62120	CAT	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086759.1		-	ENST00000367434.4	Missense_Mutation	SNP	1 : 193150555 - 193150555 C PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	436	28
C17orf97	400566	broad.mit.edu	37	17	263345	263345	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:263345C>T	ENST00000571106.1	+	1	310				C17orf97_ENST00000360127.6_Silent_p.P237P|AC108004.3_ENST00000466740.2_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	NA										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GCTTCCACCCCGACCCCGAGG	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	11	10			NA	NA	17		NA											NA				263345		1966	3979	5945	SO:0001627	intron_variant			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624	400566	400566			33800	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001013672	NM_001013672	NA	Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.304+2908C>T	17.37:g.263345C>T		NA	A5D8T6|Q6NSI2|Q6PFW9	37																																																																																				C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436874.1		+	ENST00000571106.1	Intron	SNP	17 : 263345 - 263345 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	105	5
CDH7	1005	broad.mit.edu	37	18	63526217	63526217	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:63526217G>A	ENST00000536984.2	+	9	2123	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	CDH7_ENST00000397968.2_Missense_Mutation_p.D477N|CDH7_ENST00000323011.3_Missense_Mutation_p.D477N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	477	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACATCAATGATAACGCCCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	83			NA	NA	18		NA											NA				63526217		2203	4300	6503	SO:0001583	missense			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138	1005	1005		Cadherins / Major cadherins	1766	protein-coding gene	gene with protein product		605806			NA	9615235	Standard	NM_033646	NM_033646	NA	Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000536984.2:c.1429G>A	18.37:g.63526217G>A	ENSP00000443030:p.Asp477Asn	NA	Q9H157	37		.	.	.	.	.	.	.	.	.	.	G	34	5.403313	0.96051	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.75367	-0.93;-0.93;-0.93	5.32	5.32	0.75619	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91693	0.7374	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.945;0.996	D	0.94311	0.7545	10	0.87932	D	0	.	19.347	0.94367	0.0:0.0:1.0:0.0	.	477;477	F5H5X9;Q9ULB5	.;CADH7_HUMAN	N	477	ENSP00000319166:D477N;ENSP00000443030:D477N;ENSP00000381058:D477N	ENSP00000319166:D477N	D	+	1	0	CDH7	61677197	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.666000	0.98612	2.648000	0.89879	0.467000	0.42956	GAT	CDH7-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000442208.1		+	ENST00000536984.2	Missense_Mutation	SNP	18 : 63526217 - 63526217 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	191	6
CDKN2A	1029	broad.mit.edu	37	9	21974768	21974775	+	Frame_Shift_Del	DEL	GCGGCCGT	GCGGCCGT	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GCGGCCGT	GCGGCCGT	-	-	GCGGCCGT	GCGGCCGT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:21974768_21974775delGCGGCCGT	ENST00000304494.5	-	1	322_329	c.52_59delACGGCCGC	c.(52-60)acggccgcgfs	p.TAA18fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.TAA18fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	18					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.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.T18P(2)|p.A20T(2)|p.S12fs*6(1)|p.A20E(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.T18M(1)|p.A20_A21del(1)|p.A20S(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)		ACCCCGGGCCGCGGCCGTGGCCAGCCAG	0.745		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				1359	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(10)|Deletion - Frameshift(4)|Insertion - In frame(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(149)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(47)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|prostate(4)|thymus(4)|vulva(2)|endometrium(2)|adrenal_gland(1)	GRCh37	CI983050	CDKN2A	I							NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			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	ENST00000304494.5:c.52_59delACGGCCGC	9.37:g.21974768_21974775delGCGGCCGT	ENSP00000307101:p.Thr18fs	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37	CCDS6510.1																																																																																			CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051915.1		-	ENST00000304494.5	Frame_Shift_Del	DEL	9 : 21974768 - 21974775 - PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	271	106
COL18A1	80781	broad.mit.edu	37	21	46925862	46925862	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:46925862C>A	ENST00000359759.4	+	36	4464	c.4443C>A	c.(4441-4443)aaC>aaA	p.N1481K	COL18A1_ENST00000355480.5_Missense_Mutation_p.N1246K|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.N1066K			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1481	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCGTGCAGAACGGGTTCCGGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	118	112			NA	NA	21		NA											NA				46925862		2091	4187	6278	SO:0001583	missense				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871	80781	80781		Collagens	2195	protein-coding gene	gene with protein product	endostatin	120328	Knobloch syndrome, type 1	KNO	NA	8188291, 8776601, 10942434, 17546652	Standard		NM_130445	NA	Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4443C>A	21.37:g.46925862C>A	ENSP00000352798:p.Asn1481Lys	NA	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.69|11.69	1.714181|1.714181	0.30413|0.30413	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.39787|.	1.06;1.06;1.06;1.06|.	3.69|3.69	-5.5|-5.5	0.02576|0.02576	Collagenase NC10/endostatin (1);|.	0.392987|.	0.24798|.	U|.	0.035513|.	T|T	0.41604|0.41604	0.1166|0.1166	L|L	0.41236|0.41236	1.265|1.265	0.34304|0.34304	D|D	0.684693|0.684693	D;P;P;P|.	0.53312|.	0.959;0.8;0.949;0.901|.	P;B;P;B|.	0.55055|.	0.767;0.392;0.655;0.338|.	T|T	0.49000|0.49000	-0.8984|-0.8984	10|5	0.10377|.	T|.	0.69|.	.|.	7.3656|7.3656	0.26770|0.26770	0.0:0.1979:0.1207:0.6814|0.0:0.1979:0.1207:0.6814	.|.	1481;1063;1246;1066|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	K|K	1066;1066;1246;1481;1481;414|62	ENSP00000383191:N1066K;ENSP00000347665:N1246K;ENSP00000352798:N1481K;ENSP00000339118:N414K|.	ENSP00000339118:N414K|.	N|T	+|+	3|2	2|0	COL18A1|COL18A1	45750290|45750290	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.156000|0.156000	0.22039|0.22039	-1.776000|-1.776000	0.01781|0.01781	-1.191000|-1.191000	0.02695|0.02695	-0.658000|-0.658000	0.03865|0.03865	AAC|ACG	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000206827.1		+	ENST00000359759.4	Missense_Mutation	SNP	21 : 46925862 - 46925862 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	531	138
COL5A1	1289	broad.mit.edu	37	9	137674564	137674564	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:137674564C>T	ENST00000371817.3	+	29	2896	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	828	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAGGGTGATCGGGTGAGCAT	0.587		NA											C	2	9e-04	NA	0.01	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	0.9756	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C	TRP/ARG	0,4406		0,0,2203	218	212	214		2482	3.1	1	9		214	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	828/1839	137674564	1,13005	2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2482C>T	9.37:g.137674564C>T	ENSP00000360882:p.Arg828Trp	NA	Q15094|Q5SUX4	37	CCDS6982.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	18.35	3.605486	0.66445	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.97041	-4.22	4.18	3.11	0.35812	.	0.064543	0.64402	U	0.000016	D	0.97300	0.9117	M	0.85859	2.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.95502	0.8578	10	0.72032	D	0.01	.	8.9457	0.35758	0.4494:0.5506:0.0:0.0	.	828	P20908	CO5A1_HUMAN	W	828	ENSP00000360882:R828W	ENSP00000360882:R828W	R	+	1	2	COL5A1	136814385	0.811000	0.29063	0.958000	0.39756	0.800000	0.45204	0.973000	0.29422	2.057000	0.61298	0.563000	0.77884	CGG	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137674564 - 137674564 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	819	236
CPN2	1370	broad.mit.edu	37	3	194062372	194062372	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:194062372G>A	ENST00000323830.3	-	2	1149	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	CPN2_ENST00000429275.1_Missense_Mutation_p.P354S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	354					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGAGGGCTGGGTGCAGCGCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	76	74			NA	NA	3		NA											NA				194062372		2203	4300	6503	SO:0001583	missense			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	1370	1370	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	carboxypeptidase N, polypeptide 2, 83kD	ACBP	NA	2378615, 9628828	Standard	NM_001080513	XM_005269280	NA	Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1060C>T	3.37:g.194062372G>A	ENSP00000319464:p.Pro354Ser	NA	B2RPE7|Q86SU4|Q8N5V4	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	0.420	-0.908595	0.02434	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.23950	1.88;1.88	5.56	0.155	0.14906	.	0.211850	0.24065	N	0.041861	T	0.11239	0.0274	N	0.17474	0.49	0.09310	N	1	B	0.17667	0.023	B	0.20577	0.03	T	0.35919	-0.9769	10	0.08179	T	0.78	.	6.8929	0.24241	0.0642:0.3887:0.3736:0.1736	.	354	P22792	CPN2_HUMAN	S	354	ENSP00000319464:P354S;ENSP00000402232:P354S	ENSP00000319464:P354S	P	-	1	0	CPN2	195544067	0.034000	0.19679	0.024000	0.17045	0.784000	0.44337	-0.044000	0.12023	0.080000	0.16959	0.655000	0.94253	CCA	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342856.2		-	ENST00000323830.3	Missense_Mutation	SNP	3 : 194062372 - 194062372 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	347	114
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											37	41	40			NA	NA	1		NA											NA				167095421		2203	4299	6502	SO:0001819	synonymous_variant			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842	92235	92235			25034	protein-coding gene	gene with protein product					NA		Standard	NM_001080426	NM_001080426	NA	Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1053C>T	1.37:g.167095421C>T		NA	A0AUM4|Q9C074	37	CCDS30932.1																																																																																			DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083244.1		+	ENST00000361200.2	Silent	SNP	1 : 167095421 - 167095421 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	53	12
EGFLAM	133584	broad.mit.edu	37	5	38337656	38337656	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:38337656C>T	ENST00000322350.5	+	2	478	c.132C>T	c.(130-132)ggC>ggT	p.G44G	EGFLAM_ENST00000354891.3_Silent_p.G44G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	44	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCAAGCTGGGCGCATTGAACT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(62;485 1295 3347 17454)							NA				0													93	71	78			NA	NA	5		NA											NA				38337656		2203	4300	6503	SO:0001819	synonymous_variant			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318	133584	133584		Fibronectin type III domain containing	26810	protein-coding gene	gene with protein product	pikachurin, agrin-like				NA	18641643, 20078962, 22760553	Standard	NM_152403	NM_182801	NA	Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000322350.5:c.132C>T	5.37:g.38337656C>T		NA	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	37	CCDS3924.1																																																																																			EGFLAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253824.1		+	ENST00000322350.5	Silent	SNP	5 : 38337656 - 38337656 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	69	14
FAT4	79633	broad.mit.edu	37	4	126241496	126241502	+	Frame_Shift_Del	DEL	CAATACC	CAATACC	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CAATACC	CAATACC	-	-	CAATACC	CAATACC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:126241496_126241502delCAATACC	ENST00000394329.3	+	1	3943_3949	c.3930_3936delCAATACC	c.(3928-3936)gacaataccfs	p.DNT1310fs		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1310	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1312S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAAATGACAATACCCCTTCTTTCC	0.391		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3930_3936delCAATACC	4.37:g.126241496_126241502delCAATACC	ENSP00000377862:p.Asp1310fs	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3																																																																																			FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Frame_Shift_Del	DEL	4 : 126241496 - 126241502 - PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	524	101
FBXW10	10517	broad.mit.edu	37	17	18668178	18668178	+	Splice_Site	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:18668178T>C	ENST00000308799.4	+	7	1861		c.e7+2		FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395665.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	NA										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGTAAAAGGTGAGAAAGAAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	64	61			NA	NA	17		NA											NA				18668178		2200	4293	6493	SO:0001630	splice_region_variant			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931	10517	10517		F-boxes / WD-40 domains, WD repeat domain containing	1211	protein-coding gene	gene with protein product		611679	chromosome 17 open reading frame 1A, F-box and WD-40 domain protein 10	C17orf1, C17orf1A	NA	9787083, 7586531	Standard	NM_031456	NM_001267585	NA	Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000308799.4:c.1642+2T>C	17.37:g.18668178T>C		NA	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	37		.	.	.	.	.	.	.	.	.	.	T	12.17	1.856478	0.32791	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2006	0.43082	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXW10	18608903	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	6.453000	0.73488	1.491000	0.48482	0.163000	0.16589	.	FBXW10-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000130663.1	Intron	+	ENST00000308799.4	Splice_Site	SNP	17 : 18668178 - 18668178 C PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	371	150
FLT4	2324	broad.mit.edu	37	5	180039610	180039610	+	Splice_Site	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:180039610G>A	ENST00000261937.6	-	26	3511	c.3433C>T	c.(3433-3435)Cgc>Tgc	p.R1145C	FLT4_ENST00000393347.3_Splice_Site_p.R1145C|FLT4_ENST00000502649.1_Splice_Site_p.R1145C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1145	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATGCGGCGTCTGCAGGAT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(97;1075 1466 27033 27547 35871)							NA				0													64	64	64			NA	NA	5		NA											NA				180039610		2203	4300	6503	SO:0001630	splice_region_variant			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2324	2324	2.7.10.1	Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3767	protein-coding gene	gene with protein product		136352			NA	1319394	Standard		NM_002020	NA	Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3432-1C>T	5.37:g.180039610G>A		NA	Q16067|Q86W07	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	g	14.52	2.561024	0.45590	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.82984	-1.67;-1.67;-1.67	3.57	3.57	0.40892	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81683	0.4874	L	0.35487	1.065	0.52501	D	0.999952	D;D	0.61697	0.99;0.99	P;P	0.61658	0.892;0.892	T	0.81304	-0.0993	9	0.87932	D	0	.	4.5402	0.12054	0.3012:0.0:0.6988:0.0	.	1145;1145	E9PD35;P35916	.;VGFR3_HUMAN	C	1145	ENSP00000261937:R1145C;ENSP00000377016:R1145C;ENSP00000426057:R1145C	ENSP00000261937:R1145C	R	-	1	0	FLT4	179972216	1.000000	0.71417	0.961000	0.40146	0.110000	0.19582	5.246000	0.65411	2.011000	0.59026	0.457000	0.33378	CGC	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253527.4	Missense_Mutation	-	ENST00000261937.6	Splice_Site	SNP	5 : 180039610 - 180039610 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	341	18
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74715181	74715181	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:74715181G>A	ENST00000370899.3	+	5	528	c.491G>A	c.(490-492)cGc>cAc	p.R164H	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R164H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63H|FPGT-TNNI3K_ENST00000533006.1_3'UTR|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R177H	NM_001199327.1	NP_001186256	Q59H18	TNI3K_HUMAN	FPGT-TNNI3K readthrough	63						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding				NA						TTAAATTACCGCACTGAAAAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	156	155			NA	NA	1		NA											NA				74715181		2202	4300	6502	SO:0001583	missense					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030	100526835	100526835			42952	other	readthrough					NA		Standard		NM_001112808	NA	Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.491G>A	1.37:g.74715181G>A	ENSP00000359936:p.Arg164His	NA	Q17RN0|Q49AR1|Q6MZS9|Q9Y2V6	37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.392920	0.83011	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	5.83	3.95	0.45737	Ankyrin repeat-containing domain (3);	0.054702	0.64402	N	0.000001	T	0.16642	0.0400	L	0.34521	1.04	0.50039	D	0.999849	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.69824	0.925;0.966;0.909;0.909	T	0.01604	-1.1314	10	0.51188	T	0.08	.	10.8712	0.46885	0.0677:0.0:0.8018:0.1305	.	63;164;164;164	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	H	164;164;164;164;63	ENSP00000359936:R164H;ENSP00000359932:R164H;ENSP00000450895:R164H;ENSP00000359928:R164H;ENSP00000322251:R63H	ENSP00000322251:R63H	R	+	2	0	RP11-653A5.2;AC093158.1	74487769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.409000	0.59768	0.798000	0.33994	-0.126000	0.14955	CGC	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000026438.3		+	ENST00000370899.3	Missense_Mutation	SNP	1 : 74715181 - 74715181 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	352	99
GRIN2D	2906	broad.mit.edu	37	19	48918276	48918276	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:48918276G>C	ENST00000263269.3	+	6	1656	c.1568G>C	c.(1567-1569)gGc>gCc	p.G523A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	523						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCTGGAACGGCATGATCGGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	19		NA											NA				48918276		2203	4300	6503	SO:0001583	missense			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464	2906	2906		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4588	protein-coding gene	gene with protein product	N-methyl-d-aspartate receptor subunit 2D	602717		NMDAR2D	NA	9480759, 9418891	Standard		NM_000836	NA	Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1568G>C	19.37:g.48918276G>C	ENSP00000263269:p.Gly523Ala	NA		37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950995	0.92660	.	.	ENSG00000105464	ENST00000263269	T	0.56444	0.46	4.88	4.88	0.63580	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85032	0.0918	10	0.87932	D	0	.	17.1833	0.86860	0.0:0.0:1.0:0.0	.	523	O15399	NMDE4_HUMAN	A	523	ENSP00000263269:G523A	ENSP00000263269:G523A	G	+	2	0	GRIN2D	53610088	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.546000	0.98097	2.445000	0.82738	0.655000	0.94253	GGC	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466121.1		+	ENST00000263269.3	Missense_Mutation	SNP	19 : 48918276 - 48918276 C PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	382	113
HLX	3142	broad.mit.edu	37	1	221057767	221057767	+	Silent	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:221057767G>A	ENST00000366903.6	+	4	2689	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	HLX_ENST00000549319.1_Silent_p.G182G	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	396	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGACTGAGGGGAGTGAGCGTT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	57	60			NA	NA	1		NA											NA				221057767		2203	4300	6503	SO:0001819	synonymous_variant			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630	3142	3142		Homeoboxes / ANTP class : NKL subclass	4978	protein-coding gene	gene with protein product		142995	H2.0 (Drosophila)-like homeo box 1, H2.0-like homeobox 1 (Drosophila), H2.0-like homeobox 1	HLX1	NA	1676597, 7806220	Standard	NM_021958	NM_021958	NA	Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1188G>A	1.37:g.221057767G>A		NA	B2R8A8|Q15988|Q59HE7|Q9NZ75	37	CCDS1527.1																																																																																			HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090902.3		+	ENST00000366903.6	Silent	SNP	1 : 221057767 - 221057767 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	170	75
HTR2A	3356	broad.mit.edu	37	13	47466615	47466615	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:47466615C>T	ENST00000378688.4	-	2	654	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	HTR2A_ENST00000543956.1_Missense_Mutation_p.V91I|HTR2A_ENST00000542664.1_Missense_Mutation_p.V175I			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	175					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGGATGGCGACGTAGCGGTCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													245	235	238			NA	NA	13		NA											NA				47466615		2203	4300	6503	SO:0001583	missense			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468	3356	3356		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5293	protein-coding gene	gene with protein product		182135	5-hydroxytryptamine (serotonin) receptor 2A	HTR2	NA	8035173	Standard	NM_000621	NM_000621	NA	Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.523G>A	13.37:g.47466615C>T	ENSP00000367959:p.Val175Ile	NA	B2RAC5|Q5T8C0	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009491	0.19277	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.38560	2.16;1.13;2.16	6.16	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.056991	0.64402	D	0.000002	T	0.11965	0.0291	N	0.01242	-0.935	0.41185	D	0.986261	B;B	0.16603	0.013;0.018	B;B	0.19391	0.022;0.025	T	0.39623	-0.9605	10	0.02654	T	1	.	4.7372	0.12993	0.0:0.7455:0.0:0.2545	.	91;175	F5GWE8;P28223	.;5HT2A_HUMAN	I	175;91;175	ENSP00000367959:V175I;ENSP00000441861:V91I;ENSP00000437737:V175I	ENSP00000367959:V175I	V	-	1	0	HTR2A	46364616	0.999000	0.42202	0.441000	0.26858	0.958000	0.62258	3.377000	0.52425	2.937000	0.99478	0.650000	0.86243	GTC	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044835.3		-	ENST00000378688.4	Missense_Mutation	SNP	13 : 47466615 - 47466615 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	1547	514
IGSF10	285313	broad.mit.edu	37	3	151160955	151160955	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:151160955C>T	ENST00000282466.3	-	5	5779	c.5780G>A	c.(5779-5781)cGa>cAa	p.R1927Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1927	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTACTCTTCGCTCCGAACC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,4406		0,0,2203	111	114	113		5780	4.1	0.8	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	1927/2624	151160955	1,13005	2203	4300	6503	SO:0001583	missense			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580	285313	285313		Immunoglobulin superfamily / I-set domain containing	26384	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178822	NM_178822	NA	Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5780G>A	3.37:g.151160955C>T	ENSP00000282466:p.Arg1927Gln	NA	Q86YJ9|Q8N772|Q8NA84	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360817	0.61403	0.0	1.16E-4	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66099	-0.19	5.01	4.1	0.47936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000082	T	0.72503	0.3468	L	0.48642	1.525	0.38886	D	0.957016	D	0.89917	1.0	D	0.91635	0.999	T	0.73251	-0.4042	9	.	.	.	.	14.9921	0.71396	0.0:0.8565:0.1435:0.0	.	1927	Q6WRI0	IGS10_HUMAN	Q	1927;554	ENSP00000282466:R1927Q	.	R	-	2	0	IGSF10	152643645	0.976000	0.34144	0.759000	0.31340	0.552000	0.35366	4.862000	0.62976	1.055000	0.40461	0.591000	0.81541	CGA	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357782.1		-	ENST00000282466.3	Missense_Mutation	SNP	3 : 151160955 - 151160955 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	787	264
KLHL38	340359	broad.mit.edu	37	8	124664206	124664206	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:124664206G>A	ENST00000325995.7	-	1	984	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	321										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTGTACAGCCGTGTCGGGAGT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4035		0,1,2017	70	73	72		961	4.3	0.7	8		72	1,8333		0,1,4166	no	missense	KLHL38	NM_001081675.2	101	0,2,6183	AA,AG,GG	NA	0.012,0.0248,0.0162	probably-damaging	321/582	124664206	2,12368	2018	4167	6185	SO:0001583	missense				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946	340359	340359		Kelch-like, BTB/POZ domain containing	34435	protein-coding gene	gene with protein product			kelch-like 38 (Drosophila)		NA		Standard		NM_001081675	NA	Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.961C>T	8.37:g.124664206G>A	ENSP00000321475:p.Arg321Trp	NA	A0PK12	37	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974222	0.34848	2.48E-4	1.2E-4	ENSG00000175946	ENST00000325995	T	0.67523	-0.27	5.18	4.3	0.51218	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.81802	2.56	0.52501	D	0.999951	D	0.71674	0.998	P	0.60949	0.881	T	0.79978	-0.1575	10	0.49607	T	0.09	.	11.7522	0.51855	0.0:0.1336:0.7277:0.1387	.	321	Q2WGJ6	KLH38_HUMAN	W	321	ENSP00000321475:R321W	ENSP00000321475:R321W	R	-	1	2	KLHL38	124733387	1.000000	0.71417	0.702000	0.30337	0.211000	0.24417	5.438000	0.66550	1.290000	0.44636	-0.314000	0.08810	CGG	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381288.1		-	ENST00000325995.7	Missense_Mutation	SNP	8 : 124664206 - 124664206 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	452	118
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	117	50
LAMA1	284217	broad.mit.edu	37	18	6943188	6943188	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:6943188C>T	ENST00000389658.3	-	62	9151	c.9058G>A	c.(9058-9060)Ggc>Agc	p.G3020S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3020	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGATAGCCACCAACATAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													201	143	162			NA	NA	18		NA											NA				6943188		2203	4300	6503	SO:0001583	missense			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680	284217	284217		Laminins	6481	protein-coding gene	gene with protein product		150320		LAMA	NA	2591971	Standard	NM_005559	NM_005559	NA	Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.9058G>A	18.37:g.6943188C>T	ENSP00000374309:p.Gly3020Ser	NA		37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551971	0.96501	.	.	ENSG00000101680	ENST00000389658	T	0.70869	-0.52	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89477	0.3747	10	0.62326	D	0.03	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	3020;350	P25391;B3KSD8	LAMA1_HUMAN;.	S	3020	ENSP00000374309:G3020S	ENSP00000374309:G3020S	G	-	1	0	LAMA1	6933188	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	7.399000	0.79935	2.778000	0.95560	0.655000	0.94253	GGC	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257369.1		-	ENST00000389658.3	Missense_Mutation	SNP	18 : 6943188 - 6943188 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	261	85
MSR1	4481	broad.mit.edu	37	8	15967630	15967630	+	Silent	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:15967630T>C	ENST00000445506.2	-	10	1437	c.1374A>G	c.(1372-1374)tcA>tcG	p.S458S	MSR1_ENST00000350896.3_Silent_p.S377S|MSR1_ENST00000355282.2_Silent_p.S377S|MSR1_ENST00000262101.5_Silent_p.S440S			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCAGAATGTGAACAGGCTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	94			NA	NA	8		NA											NA				15967630		2203	4300	6503	SO:0001819	synonymous_variant			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945	NA	4481		CD molecules	7376	protein-coding gene	gene with protein product		153622			NA	2251254	Standard		NM_138715	NA	Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000445506.2:c.1374A>G	8.37:g.15967630T>C		NA	D3DSP3|O60505|P21759|Q45F10	37																																																																																				MSR1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375985.1		-	ENST00000445506.2	Silent	SNP	8 : 15967630 - 15967630 C PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	375	194
MYBBP1A	10514	broad.mit.edu	37	17	4458561	4458561	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:4458561G>A	ENST00000254718.4	-	1	365	c.59C>T	c.(58-60)gCc>gTc	p.A20V	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A20V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	20	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGCAGGCCGGGCGCCACTCTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	21	20			NA	NA	17		NA											NA				4458561		2201	4299	6500	SO:0001583	missense			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382	10514	10514			7546	protein-coding gene	gene with protein product	p53-activated protein-2	604885			NA	10644447	Standard	NM_014520	NM_014520	NA	Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.59C>T	17.37:g.4458561G>A	ENSP00000254718:p.Ala20Val	NA	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590249	0.28357	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.18657	2.2;2.21	3.65	-2.44	0.06502	.	0.961415	0.08483	N	0.939134	T	0.08537	0.0212	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.11329	0.003;0.006	T	0.35450	-0.9788	10	0.23302	T	0.38	.	1.0496	0.01577	0.3956:0.1515:0.2986:0.1543	.	20;20	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	V	20	ENSP00000370968:A20V;ENSP00000254718:A20V	ENSP00000254718:A20V	A	-	2	0	MYBBP1A	4405310	0.095000	0.21747	0.011000	0.14972	0.013000	0.08279	-0.258000	0.08733	-0.739000	0.04809	-0.952000	0.02654	GCC	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207488.2		-	ENST00000254718.4	Missense_Mutation	SNP	17 : 4458561 - 4458561 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	74	42
MYT1	4661	broad.mit.edu	37	20	62838994	62838994	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:62838994G>A	ENST00000328439.1	+	7	809	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MYT1_ENST00000536311.1_Missense_Mutation_p.A149T|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q01538	MYT1_HUMAN	myelin transcription factor 1	149					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CATCGGCAGCGCCACTGCCTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(59;481 1041 20555 21139 33705)							NA				0													75	81	79			NA	NA	20		NA											NA				62838994		2203	4300	6503	SO:0001583	missense			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132	4661	4661		Zinc fingers, C2HC-type containing	7622	protein-coding gene	gene with protein product	neural zinc finger transcription factor 2	600379		PLPB1	NA	1280325, 9268380	Standard	NM_004535	NM_004535	NA	Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.445G>A	20.37:g.62838994G>A	ENSP00000327465:p.Ala149Thr	NA	E1P5H0|O94922|Q9UPV2	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	6.847	0.525511	0.13066	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.45276	0.9;0.91	4.32	-0.391	0.12446	.	0.867931	0.10082	N	0.718370	T	0.14227	0.0344	N	0.03608	-0.345	0.20196	N	0.99992	B	0.02656	0.0	B	0.01281	0.0	T	0.24584	-1.0156	10	0.13470	T	0.59	-1.3728	1.1079	0.01698	0.2243:0.3488:0.2532:0.1737	.	149	Q01538	MYT1_HUMAN	T	149	ENSP00000327465:A149T;ENSP00000442412:A149T	ENSP00000327465:A149T	A	+	1	0	MYT1	62309438	0.001000	0.12720	0.061000	0.19648	0.619000	0.37552	-0.116000	0.10724	-0.138000	0.11434	-0.267000	0.10333	GCC	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080297.1		+	ENST00000328439.1	Missense_Mutation	SNP	20 : 62838994 - 62838994 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	916	224
NELFA	7469	broad.mit.edu	37	4	1985370	1985370	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:1985370G>A	ENST00000382882.3	-	10	2505	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	NELFA_ENST00000542778.1_Missense_Mutation_p.T317M|NELFA_ENST00000411638.2_Missense_Mutation_p.T452M					negative elongation factor complex member A	NA											NA						CTCGGGCCGCGTGACTTTGTT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	4		NA											NA				1985370		2203	4300	6503	SO:0001583	missense			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049	7469	7469			12768	protein-coding gene	gene with protein product		606026	Wolf-Hirschhorn syndrome candidate 2	WHSC2	NA	10409432	Standard	NM_005663	NM_005663	NA	Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000382882.3:c.1388C>T	4.37:g.1985370G>A	ENSP00000372335:p.Thr463Met	NA		37	CCDS3358.2	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625645	0.66901	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.72326	0.3446	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76634	-0.2887	10	0.87932	D	0	-16.8991	17.9212	0.88966	0.0:0.0:1.0:0.0	.	452	Q9H3P2	NELFA_HUMAN	M	463;456;317;452	ENSP00000372335:T463M;ENSP00000387647:T456M;ENSP00000445757:T317M;ENSP00000399165:T452M	ENSP00000372335:T463M	T	-	2	0	WHSC2	1955168	1.000000	0.71417	0.914000	0.36105	0.239000	0.25481	7.770000	0.85390	2.248000	0.74166	0.462000	0.41574	ACG	NELFA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000205240.3		-	ENST00000382882.3	Missense_Mutation	SNP	4 : 1985370 - 1985370 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	363	43
NKD1	85407	broad.mit.edu	37	16	50666302	50666302	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr16:50666302C>T	ENST00000268459.3	+	9	1030	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	269					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAAAACTACACGTCCCAATTT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	72	80			NA	NA	16		NA											NA				50666302		2198	4300	6498	SO:0001583	missense			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807	85407	85407		EF-hand domain containing	17045	protein-coding gene	gene with protein product		607851			NA	11356022	Standard		NM_033119	NA	Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.806C>T	16.37:g.50666302C>T	ENSP00000268459:p.Thr269Met	NA	B2RC39|Q8WZ08	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791638	0.90367	.	.	ENSG00000140807	ENST00000268459	T	0.77620	-1.11	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90850	0.4730	10	0.87932	D	0	-12.9426	18.6084	0.91275	0.0:1.0:0.0:0.0	.	269	Q969G9	NKD1_HUMAN	M	269	ENSP00000268459:T269M	ENSP00000268459:T269M	T	+	2	0	NKD1	49223803	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	7.578000	0.82498	2.403000	0.81681	0.563000	0.77884	ACG	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256873.1		+	ENST00000268459.3	Missense_Mutation	SNP	16 : 50666302 - 50666302 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	235	86
NPAS4	266743	broad.mit.edu	37	11	66190209	66190209	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:66190209A>T	ENST00000311034.2	+	4	671	c.495A>T	c.(493-495)aaA>aaT	p.K165N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	165					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGGCAACAAACTCGTGCTTA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	114			NA	NA	11		NA											NA				66190209		2200	4295	6495	SO:0001583	missense			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576	266743	266743		Basic helix-loop-helix proteins	18983	protein-coding gene	gene with protein product		608554			NA	14701734	Standard	NM_178864	NM_178864	NA	Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.495A>T	11.37:g.66190209A>T	ENSP00000311196:p.Lys165Asn	NA	Q8N8S5|Q8N9Q9	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254963	0.80135	.	.	ENSG00000174576	ENST00000311034	T	0.55588	0.51	5.74	1.2	0.21068	.	0.097095	0.45606	D	0.000357	T	0.70245	0.3202	M	0.87038	2.855	0.58432	D	0.999999	D	0.71674	0.998	D	0.72982	0.979	T	0.69461	-0.5139	10	0.87932	D	0	-10.5374	7.7832	0.29077	0.4889:0.0:0.5111:0.0	.	165	Q8IUM7	NPAS4_HUMAN	N	165	ENSP00000311196:K165N	ENSP00000311196:K165N	K	+	3	2	NPAS4	65946785	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.957000	0.40392	0.145000	0.18977	0.533000	0.62120	AAA	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392634.1		+	ENST00000311034.2	Missense_Mutation	SNP	11 : 66190209 - 66190209 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	528	175
NRXN3	9369	broad.mit.edu	37	14	79746678	79746678	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr14:79746678C>T	ENST00000281127.7	+	1	923	c.44C>T	c.(43-45)cCg>cTg	p.P15L	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.P15L|NRXN3_ENST00000557594.1_Missense_Mutation_p.P15L|NRXN3_ENST00000335750.5_Intron	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	15					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCGCCGGCCGGCCTGGACG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	142	143			NA	NA	14		NA											NA				79746678		2203	4300	6503	SO:0001583	missense			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645	9369	9369			8010	protein-coding gene	gene with protein product		600567	chromosome 14 open reading frame 60	C14orf60	NA	11944992, 12379233	Standard	NM_001105250	NM_004796	NA	Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000281127.7:c.44C>T	14.37:g.79746678C>T	ENSP00000281127:p.Pro15Leu	NA	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	37	CCDS9871.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132572	0.77662	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35789	1.4;1.46;1.29	5.58	5.58	0.84498	.	.	.	.	.	T	0.43590	0.1254	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.983	D;D;D	0.79108	0.992;0.969;0.931	T	0.33420	-0.9869	8	.	.	.	.	17.8182	0.88642	0.0:1.0:0.0:0.0	.	15;15;15	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	L	15	ENSP00000451672:P15L;ENSP00000281127:P15L;ENSP00000394426:P15L	.	P	+	2	0	NRXN3	78816431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.259000	0.43259	2.647000	0.89833	0.558000	0.71614	CCG	NRXN3-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413791.1		+	ENST00000281127.7	Missense_Mutation	SNP	14 : 79746678 - 79746678 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	1056	52
NUP85	79902	broad.mit.edu	37	17	73229049	73229049	+	Silent	SNP	G	G	A	rs150650595		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:73229049G>A	ENST00000579298.1	+	14	1407	c.1365G>A	c.(1363-1365)acG>acA	p.T455T	NUP85_ENST00000447371.2_Silent_p.T332T|NUP85_ENST00000245544.4_Silent_p.T500T|NUP85_ENST00000540768.1_Silent_p.T103T|NUP85_ENST00000579324.1_Silent_p.T388T|NUP85_ENST00000541827.1_Silent_p.T454T			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	500					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCTTTGCCACGCTCGTGTCAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	98	99			NA	NA	17		NA											NA				73229049		2203	4300	6503	SO:0001819	synonymous_variant			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450	79902	79902			8734	protein-coding gene	gene with protein product		170285			NA	8124707	Standard	NM_024844	XM_005257690	NA	Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000579298.1:c.1365G>A	17.37:g.73229049G>A		NA	Q8NDI4|Q9H9U1	37																																																																																				NUP85-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000446625.1		+	ENST00000579298.1	Silent	SNP	17 : 73229049 - 73229049 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	424	7
OBSCN	84033	broad.mit.edu	37	1	228479741	228479741	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:228479741C>T	ENST00000570156.2	+	44	11843	c.11769C>T	c.(11767-11769)taC>taT	p.Y3923Y	OBSCN_ENST00000366707.4_Silent_p.Y613Y|OBSCN_ENST00000366709.4_Silent_p.Y613Y|OBSCN_ENST00000359599.6_Silent_p.Y2341Y|OBSCN_ENST00000284548.11_Silent_p.Y3494Y|OBSCN_ENST00000422127.1_Silent_p.Y3494Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2961	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGACAGATACATCCTGAGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	105	104			NA	NA	1		NA											NA				228479741		2074	4188	6262	SO:0001819	synonymous_variant			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.11769C>T	1.37:g.228479741C>T		NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1																																																																																			OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Silent	SNP	1 : 228479741 - 228479741 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	502	36
OSBPL6	114880	broad.mit.edu	37	2	179193055	179193055	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:179193055G>A	ENST00000190611.4	+	5	644	c.268G>A	c.(268-270)Gag>Aag	p.E90K	OSBPL6_ENST00000392505.2_Missense_Mutation_p.E90K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E90K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E69K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E90K|OSBPL6_ENST00000477097.1_3'UTR	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	90	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGACAAACATGAGGGCTTTAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	106	105			NA	NA	2		NA											NA				179193055		2203	4300	6503	SO:0001583	missense			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156	114880	114880		Oxysterol binding proteins	16388	protein-coding gene	gene with protein product	OSBP-related protein 6	606734			NA	11483621	Standard	NM_032523	NM_001201480	NA	Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.268G>A	2.37:g.179193055G>A	ENSP00000190611:p.Glu90Lys	NA	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q8N9T0|Q96SR1	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939758	0.92526	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.14893	2.55;2.51;2.47;2.53;2.54;2.51;2.56	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	L	0.60957	1.885	0.80722	D	1	B;D;D;D;D;D	0.76494	0.421;0.999;0.996;0.999;0.997;0.998	B;D;D;D;D;D	0.83275	0.399;0.993;0.981;0.996;0.98;0.991	T	0.03695	-1.1012	10	0.15952	T	0.53	-18.931	19.3787	0.94523	0.0:0.0:1.0:0.0	.	90;69;90;90;90;90	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	K	90;90;90;90;90;90;69	ENSP00000376293:E90K;ENSP00000352713:E90K;ENSP00000349591:E90K;ENSP00000387248:E90K;ENSP00000190611:E90K;ENSP00000386885:E90K;ENSP00000318723:E69K	ENSP00000190611:E90K	E	+	1	0	OSBPL6	178901301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.577000	0.86979	0.655000	0.94253	GAG	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334393.2		+	ENST00000190611.4	Missense_Mutation	SNP	2 : 179193055 - 179193055 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	456	28
RIMS1	22999	broad.mit.edu	37	6	73043409	73043409	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:73043409G>A	ENST00000264839.7	+	25	3784	c.3784G>A	c.(3784-3786)Ggc>Agc	p.G1262S	RIMS1_ENST00000348717.5_Missense_Mutation_p.G1196S|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1196S|RIMS1_ENST00000401910.3_Missense_Mutation_p.G733S|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1413S|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.G219S|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1236S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1413					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCATAATGACGGCAGCCAGTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	59	57			NA	NA	6		NA											NA				73043409		2057	4192	6249	SO:0001583	missense			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841	NA	22999			17282	protein-coding gene	gene with protein product	Rab3-interacting molecule	606629	RAB3 interacting protein 2	RAB3IP2, CORD7	NA	9205841, 11438518	Standard		NM_001168407	NA	Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000264839.7:c.3784G>A	6.37:g.73043409G>A	ENSP00000264839:p.Gly1262Ser	NA	A7MBN6|O15048|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.444142|5.444142	0.96187|0.96187	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000517433	T;T;T;T;T;T;T;T;T|.	0.22945|.	2.22;2.42;2.34;2.42;2.26;2.34;2.23;1.94;1.93|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.64821|0.64821	0.2633|0.2633	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.985;1.0;1.0;1.0;1.0|.	D;D;P;D;D;D;D|.	0.91635|.	0.94;0.996;0.681;0.998;0.999;0.999;0.994|.	T|T	0.58825|0.58825	-0.7568|-0.7568	10|5	0.62326|.	D|.	0.03|.	-22.5976|-22.5976	20.1225|20.1225	0.97967|0.97967	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	219;1262;733;1196;489;1236;1413|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	S|Q	1236;1262;1236;1196;1262;1196;1413;733;578;461;219|758	ENSP00000430101:G1236S;ENSP00000275037:G1196S;ENSP00000264839:G1262S;ENSP00000429959:G1196S;ENSP00000428417:G1413S;ENSP00000385649:G733S;ENSP00000389503:G578S;ENSP00000359448:G461S;ENSP00000439730:G219S|.	ENSP00000264839:G1262S|.	G|R	+|+	1|2	0|0	RIMS1|RIMS1	73100130|73100130	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.994000|0.994000	0.84299|0.84299	9.813000|9.813000	0.99286|0.99286	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GGC|CGG	RIMS1-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000041173.4		+	ENST00000264839.7	Missense_Mutation	SNP	6 : 73043409 - 73043409 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	40	17
RLN1	6013	broad.mit.edu	37	9	5339732	5339732	+	Silent	SNP	G	G	A	rs140350306	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:5339732G>A	ENST00000223862.1	-	1	141	c.15C>T	c.(13-15)ttC>ttT	p.F5F	RLN1_ENST00000223858.4_Silent_p.F5F	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	5					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GGTGGAACAAGAACAGGCGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		4,4398	4.2+/-10.8	0,4,2197	54	62	59		15	-0.3	0	9	dbSNP_134	59	0,8598		0,0,4299	no	coding-synonymous	RLN1	NM_006911.2		0,4,6496	AA,AG,GG	NA	0.0,0.0909,0.0308		5/186	5339732	4,12996	2201	4299	6500	SO:0001819	synonymous_variant				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018	6013	6013		Endogenous ligands	10026	protein-coding gene	gene with protein product	prorelaxin H1	179730	relaxin 1 (H1)		NA		Standard		NM_006911	NA	Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.15C>T	9.37:g.5339732G>A		NA	Q99936|Q9UQJ1	37	CCDS6462.1																																																																																			RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051617.1		-	ENST00000223862.1	Silent	SNP	9 : 5339732 - 5339732 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	123	50
RSPO1	284654	broad.mit.edu	37	1	38079563	38079563	+	Splice_Site	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:38079563C>T	ENST00000401069.1	-	6	1150	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000356545.2_Splice_Site_p.A146A|RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(122;680 2230 27822 42821)							NA				0								C	,,,	1,3913		0,1,1956	46	49	48		438,438,357,	-1.3	1	1		48	0,8282		0,0,4141	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,intron	RSPO1	NM_001038633.3,NM_001242908.1,NM_001242909.1,NM_001242910.1	,,,	0,1,6097	TT,TC,CC	NA	0.0,0.0255,0.0082	,,,	146/264,146/264,119/237,	38079563	1,12195	1957	4141	6098	SO:0001630	splice_region_variant			AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218	284654	284654		Endogenous ligands	21679	protein-coding gene	gene with protein product		609595	R-spondin homolog (Xenopus laevis)		NA		Standard	NM_173640	NM_001038633	NA	Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.437-1G>A	1.37:g.38079563C>T		NA	A2A420|Q14C72|Q5T0F2|Q8N7L5	37	CCDS41304.1																																																																																			RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012477.2	Silent	-	ENST00000401069.1	Splice_Site	SNP	1 : 38079563 - 38079563 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	372	123
SAMD7	344658	broad.mit.edu	37	3	169644398	169644398	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:169644398C>T	ENST00000428432.2	+	6	737	c.348C>T	c.(346-348)ccC>ccT	p.P116P	SAMD7_ENST00000335556.3_Silent_p.P116P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	116										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAATTAATCCCAAGGGACTAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	48	47			NA	NA	3		NA											NA				169644398		2203	4300	6503	SO:0001819	synonymous_variant			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033	344658	344658		Sterile alpha motif (SAM) domain containing	25394	protein-coding gene	gene with protein product					NA		Standard	NM_182610	NM_182610	NA	Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.348C>T	3.37:g.169644398C>T		NA		37	CCDS3209.1																																																																																			SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351959.1		+	ENST00000428432.2	Silent	SNP	3 : 169644398 - 169644398 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	473	144
SIGIRR	59307	broad.mit.edu	37	11	406437	406439	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GTC	GTC	-	-	GTC	GTC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:406437_406439delGTC	ENST00000431843.2	-	9	1285_1287	c.979_981delGAC	c.(979-981)gacdel	p.D327del	SIGIRR_ENST00000397632.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000382520.2_In_Frame_Del_p.D327del|SIGIRR_ENST00000332725.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000531205.1_In_Frame_Del_p.D327del	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	327					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGTCCTTGTCGTCCTGCAGC	0.65		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion				CCDS31325.1	11p15.5	2013-01-11	2005-10-10				59307	59307		Immunoglobulin superfamily / Immunoglobulin-like domain containing	30575	protein-coding gene	gene with protein product	single immunoglobulin domain IL1R1 related	605478			NA	10346978	Standard	NM_021805	NM_021805	NA	Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.979_981delGAC	11.37:g.406440_406442delGTC	ENSP00000403104:p.Asp327del	NA	Q3KQY2|Q6UXI3|Q9H733	37	CCDS31325.1																																																																																			SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383884.3		-	ENST00000431843.2	In_Frame_Del	DEL	11 : 406437 - 406439 - PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	474	137
SLC4A1	6521	broad.mit.edu	37	17	42332022	42332022	+	Silent	SNP	C	C	T	rs148412733	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:42332022C>T	ENST00000262418.6	-	16	2054	c.1899G>A	c.(1897-1899)tcG>tcA	p.S633S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	633	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCAGGCACCGAGAGTTTCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T		3,4403	6.2+/-15.9	0,3,2200	41	35	37		1899	-11.3	0	17	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	SLC4A1	NM_000342.3		0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231		633/912	42332022	3,13003	2203	4300	6503	SO:0001819	synonymous_variant				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939	6521	6521		CD molecules, Blood group antigens, Solute carriers	11027	protein-coding gene	gene with protein product	Froese blood group, Swann blood group, Wright blood group	109270	Waldner blood group, erythrocyte membrane protein band 3, Diego blood group, solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group), solute carrier family 4 (anion exchanger), member 1	EPB3, AE1, DI, WD	NA	8434259	Standard	NM_000342	NM_000342	NA	Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1899G>A	17.37:g.42332022C>T		NA	P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	37	CCDS11481.1																																																																																			SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346194.1		-	ENST00000262418.6	Silent	SNP	17 : 42332022 - 42332022 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	110	53
TCTE1	202500	broad.mit.edu	37	6	44254103	44254103	+	Silent	SNP	G	G	A	rs146051785		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:44254103G>A	ENST00000371505.4	-	3	566	c.444C>T	c.(442-444)ggC>ggT	p.G148G	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	148										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTGCCGCCATGGTGGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	70	64	66		444	-3.5	0.9	6	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TCTE1	NM_182539.3		0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154		148/502	44254103	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221	202500	202500			11693	protein-coding gene	gene with protein product		186975			NA	2568335, 8646886	Standard	NM_182539	NM_182539	NA	Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.444C>T	6.37:g.44254103G>A		NA	B4DX59|Q8IYS6	37	CCDS4910.1																																																																																			TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040736.1		-	ENST00000371505.4	Silent	SNP	6 : 44254103 - 44254103 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	537	231
TMEM67	91147	broad.mit.edu	37	8	94767364	94767364	+	Splice_Site	SNP	A	A	G			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:94767364A>G	ENST00000453321.3	+	1	280	c.222A>G	c.(220-222)cgA>cgG	p.R74R	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	74					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAGATGCCCGAGGTAAGACGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	81	81			NA	NA	8		NA											NA				94767364		2203	4300	6503	SO:0001630	splice_region_variant			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953	91147	91147			28396	protein-coding gene	gene with protein product	Meckelin	609884	Meckel syndrome, type 3	MKS3	NA	12384791, 16415887, 19508969	Standard	NM_153704	NM_153704	NA	Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.223+1A>G	8.37:g.94767364A>G		NA	B3KT47|Q3ZCX3|Q7Z5T8|Q8IZ06	37	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787392	0.31593	.	.	ENSG00000164953	ENST00000521517	D	0.92699	-3.09	5.35	0.149	0.14863	.	0.907118	0.09652	N	0.773578	D	0.91129	0.7207	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84821	0.0796	7	0.56958	D	0.05	1.5014	4.9979	0.14249	0.5177:0.1558:0.3265:0.0	.	.	.	.	G	72	ENSP00000430740:R72G	ENSP00000427947:R73G	R	+	1	2	TMEM67	94836540	0.805000	0.28982	0.152000	0.22495	0.824000	0.46624	0.741000	0.26202	-0.097000	0.12307	0.477000	0.44152	AGG	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329641.2	Silent	+	ENST00000453321.3	Splice_Site	SNP	8 : 94767364 - 94767364 G PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	377	303
TMEM82	388595	broad.mit.edu	37	1	16069389	16069389	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:16069389G>A	ENST00000375782.1	+	2	286	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	50	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTACTTCTTCGTGGGCTGTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	30	31			NA	NA	1		NA											NA				16069389		2203	4300	6503	SO:0001583	missense				CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460	388595	388595			32350	protein-coding gene	gene with protein product					NA		Standard	NM_001013641	NM_001013641	NA	Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.148G>A	1.37:g.16069389G>A	ENSP00000364938:p.Val50Met	NA	B2RP27|Q5VVD4	37	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670358	0.67814	.	.	ENSG00000162460	ENST00000375782	T	0.50277	0.75	4.48	2.05	0.26809	.	0.816927	0.10716	N	0.642304	T	0.53674	0.1811	M	0.62723	1.935	0.22240	N	0.99926	D	0.63046	0.992	P	0.54706	0.759	T	0.41770	-0.9490	10	0.72032	D	0.01	-12.4796	5.2429	0.15481	0.1953:0.1904:0.6142:0.0	.	50	A0PJX8	TMM82_HUMAN	M	50	ENSP00000364938:V50M	ENSP00000364938:V50M	V	+	1	0	TMEM82	15941976	0.000000	0.05858	0.996000	0.52242	0.935000	0.57460	0.266000	0.18534	0.953000	0.37825	0.556000	0.70494	GTG	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008471.2		+	ENST00000375782.1	Missense_Mutation	SNP	1 : 16069389 - 16069389 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	250	14
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97			NA	NA	17		NA											NA				7578190		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.659A>G	17.37:g.7578190T>C	ENSP00000391127:p.Tyr220Cys	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578190 - 7578190 C PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	148	68
TRHR	7201	broad.mit.edu	37	8	110131289	110131289	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:110131289C>T	ENST00000518632.1	+	3	1153	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	TRHR_ENST00000311762.2_Silent_p.L268L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	268						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CACCAAGATGCTGGCAGTGGT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	235	237			NA	NA	8		NA											NA				110131289		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417	7201	7201			12299	protein-coding gene	gene with protein product		188545			NA	8128317	Standard		NM_003301	NA	Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.802C>T	8.37:g.110131289C>T		NA	Q2M339	37	CCDS6311.1																																																																																			TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380892.1		+	ENST00000518632.1	Silent	SNP	8 : 110131289 - 110131289 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	2237	545
TRPM2	7226	broad.mit.edu	37	21	45838383	45838383	+	Nonsense_Mutation	SNP	C	C	T	rs143493112	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:45838383C>T	ENST00000397932.2	+	22	3419	c.3406C>T	c.(3406-3408)Cga>Tga	p.R1136*	TRPM2_ENST00000397928.1_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116*			O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1136						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCCAGAACCGACAGTTCCA	0.607		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	0.0012	SNP								NA				0								C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	135	137	137		3406	4.8	0.3	21	dbSNP_134	137	12,8588	9.1+/-34.3	0,12,4288	yes	stop-gained	TRPM2	NM_003307.3		0,15,6488	TT,TC,CC	NA	0.1395,0.0681,0.1153		1136/1504	45838383	15,12991	2203	4300	6503	SO:0001587	stop_gained			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185	7226	7226		Voltage-gated ion channels / Transient receptor potential cation channels, Nudix motif containing	12339	protein-coding gene	gene with protein product		603749		TRPC7	NA	9806837, 11385575, 16382100	Standard	NM_003307	NR_038257	NA	Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397932.2:c.3406C>T	21.37:g.45838383C>T	ENSP00000381026:p.Arg1136*	NA	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	38	7.041531	0.98021	6.81E-4	0.001395	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	4.81	4.81	0.61882	.	0.605119	0.16448	N	0.213991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-12.6798	11.4159	0.49951	0.0:0.9154:0.0:0.0846	.	.	.	.	X	1136;1136;1116;1136	.	ENSP00000300481:R1116X	R	+	1	2	TRPM2	44662811	0.834000	0.29399	0.303000	0.25071	0.096000	0.18686	3.140000	0.50585	2.395000	0.81488	0.514000	0.50259	CGA	TRPM2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339787.1		+	ENST00000397932.2	Nonsense_Mutation	SNP	21 : 45838383 - 45838383 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	1012	292
ZDBF2	57683	broad.mit.edu	37	2	207174767	207174767	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:207174767G>A	ENST00000374423.3	+	5	5901	c.5515G>A	c.(5515-5517)Gat>Aat	p.D1839N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1839							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGAGAGAAGATGACATAAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	74	75			NA	NA	2		NA											NA				207174767		1869	4108	5977	SO:0001583	missense			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186	57683	57683		Zinc fingers, DBF-type	29313	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_020923	XM_005246711	NA	Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5515G>A	2.37:g.207174767G>A	ENSP00000363545:p.Asp1839Asn	NA	Q6ZNP7|Q6ZSN8	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233468	0.79688	.	.	ENSG00000204186	ENST00000374423	T	0.71934	-0.61	5.48	4.56	0.56223	.	.	.	.	.	T	0.63663	0.2530	L	0.53249	1.67	0.32979	D	0.523413	P	0.46859	0.885	B	0.37601	0.254	T	0.73329	-0.4017	9	0.46703	T	0.11	.	12.884	0.58032	0.0832:0.0:0.9168:0.0	.	1839	Q9HCK1	ZDBF2_HUMAN	N	1839	ENSP00000363545:D1839N	ENSP00000363545:D1839N	D	+	1	0	ZDBF2	206883012	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.969000	0.56816	1.244000	0.43870	0.551000	0.68910	GAT	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336458.1		+	ENST00000374423.3	Missense_Mutation	SNP	2 : 207174767 - 207174767 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	252	82
ZFPM2	23414	broad.mit.edu	37	8	106815014	106815014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:106815014C>T	ENST00000407775.2	+	8	2954	c.2704C>T	c.(2704-2706)Cga>Tga	p.R902*	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R633*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	902					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R902*(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAGCGAACGAAACAGCCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											46	45	45			NA	NA	8		NA											NA				106815014		1930	4141	6071	SO:0001587	stop_gained			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946	23414	23414		Zinc fingers, C2H2-type, Zinc fingers, C2HC-type containing	16700	protein-coding gene	gene with protein product		603693	zinc finger protein, multitype 2		NA	9927675, 10438528	Standard		NM_012082	NA	Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2704C>T	8.37:g.106815014C>T	ENSP00000384179:p.Arg902*	NA	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	37	5.984063	0.97173	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.57	3.73	0.42828	.	0.176149	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	14.4956	0.67685	0.5405:0.4595:0.0:0.0	.	.	.	.	X	902;770;770;633	.	ENSP00000367733:R633X	R	+	1	2	ZFPM2	106884190	1.000000	0.71417	0.973000	0.42090	0.869000	0.49853	1.600000	0.36762	0.663000	0.31027	-0.284000	0.09977	CGA	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380614.1		+	ENST00000407775.2	Nonsense_Mutation	SNP	8 : 106815014 - 106815014 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	166	44
ZFR	51663	broad.mit.edu	37	5	32364367	32364367	+	Silent	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:32364367T>C	ENST00000265069.8	-	18	2952	c.2850A>G	c.(2848-2850)ctA>ctG	p.L950L	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	950	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTTTCTCTACTAGTAACTCCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	69			NA	NA	5		NA											NA				32364367		2203	4300	6503	SO:0001819	synonymous_variant			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097	51663	51663			17277	protein-coding gene	gene with protein product		615635			NA	11574164, 24482476	Standard		NM_016107	NA	Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2850A>G	5.37:g.32364367T>C		NA	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	37	CCDS34139.1																																																																																			ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366586.1		-	ENST00000265069.8	Silent	SNP	5 : 32364367 - 32364367 C PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	392	149
ZIM2	23619	broad.mit.edu	37	19	57286068	57286068	+	Silent	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:57286068G>A	ENST00000391708.3	-	12	2114	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Silent_p.C524C|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Silent_p.C524C|ZIM2_ENST00000601070.1_Silent_p.C524C|ZIM2_ENST00000221722.5_Silent_p.C524C	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2	NA								p.C524C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AACAGTGATCGCACTCAACAG	0.458		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)											92	88	89			NA	NA	19		NA											NA				57286068		2203	4300	6503	SO:0001819	synonymous_variant			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699	23619	23619		Zinc fingers, C2H2-type	12875	protein-coding gene	gene with protein product					NA		Standard		NM_015363	NA	Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1572C>T	19.37:g.57286068G>A		NA		37	CCDS33123.1																																																																																			ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416094.2		-	ENST00000391708.3	Silent	SNP	19 : 57286068 - 57286068 A PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	279	68
ZNF662	389114	broad.mit.edu	37	3	42950359	42950359	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:42950359C>T	ENST00000541208.1	+	3	478	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	ZNF662_ENST00000440367.2_Missense_Mutation_p.R37W|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Missense_Mutation_p.R97W|ZNF662_ENST00000422021.1_Missense_Mutation_p.R37W|KRBOX1_ENST00000426937.1_5'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCGGTTCCTCGGGGAGCTCT	0.542		NA											C	2	9e-04	0.002	NA	2184	0.0017	1	,	,	NA	4e-04	NA	NA	NA	9e-04	0.9756	EXOME	NA	NA	7e-04	SNP								NA				0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	70	75	73		289,109	0.5	0	3		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF662	NM_001134656.1,NM_207404.3	101,101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	97/453,37/427	42950359	1,13005	2203	4300	6503	SO:0001583	missense			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983	389114	389114		Zinc fingers, C2H2-type, -	31930	protein-coding gene	gene with protein product					NA		Standard	NM_207404	NM_207404	NA	Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.109C>T	3.37:g.42950359C>T	ENSP00000446208:p.Arg37Trp	NA	Q6ZNF8|Q6ZQW8	37	CCDS2708.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	1.020	-0.685146	0.03328	0.0	1.16E-4	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208;ENST00000422021	T;T;T	0.08546	3.08;3.12;3.08	3.08	0.535	0.17133	Krueppel-associated box (1);	.	.	.	.	T	0.12817	0.0311	M	0.82823	2.61	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	9	0.37606	T	0.19	.	9.101	0.36669	0.0:0.7309:0.0:0.2691	.	97;37	F8W7S8;Q6ZS27	.;ZN662_HUMAN	W	37;97;37;37	ENSP00000405047:R37W;ENSP00000329264:R97W;ENSP00000446208:R37W	ENSP00000329264:R97W	R	+	1	2	ZNF662	42925363	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.072000	0.11486	-0.317000	0.08677	-1.134000	0.01955	CGG	ZNF662-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256646.4		+	ENST00000541208.1	Missense_Mutation	SNP	3 : 42950359 - 42950359 T PAAD-TCGA-F2-6879-Tumor-SM-2NW6Y	540	169
