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
ABLIM1	3983	broad.mit.edu	37	10	116331054	116331054	+	Splice_Site	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:116331054A>C	ENST00000277895.5	-	4	771		c.e4+1		ABLIM1_ENST00000533213.2_Splice_Site|ABLIM1_ENST00000369252.4_Splice_Site	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	NA					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CGGGGCACTTACTGCTGGAGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	127	128			NA	NA	10		NA											NA				116331054		2203	4300	6503	SO:0001630	splice_region_variant			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204	3983	3983			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM	NA	9245787	Standard		NM_002313	NA	Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.673+1T>G	10.37:g.116331054A>C		NA	A6NI16|A6NJ06|A8MXA9|Q15039|Q5JVV1|Q5JVV2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702615	0.88924	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392955;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0319	0.71713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABLIM1	116321044	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.069000	0.93967	2.288000	0.76882	0.533000	0.62120	.	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050469.3	Intron	-	ENST00000277895.5	Splice_Site	SNP	10 : 116331054 - 116331054 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	472	85
ABTB2	25841	broad.mit.edu	37	11	34182562	34182562	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:34182562G>A	ENST00000435224.2	-	11	2709	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L	ABTB2_ENST00000298992.2_Missense_Mutation_p.S576L	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	576							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGCACCACCGAGTACCGCGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	65	69			NA	NA	11		NA											NA				34182562		2202	4298	6500	SO:0001583	missense			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016	25841	25841		BTB/POZ domain containing, Ankyrin repeat domain containing	23842	protein-coding gene	gene with protein product					NA		Standard	NM_145804	NM_145804	NA	Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2285C>T	11.37:g.34182562G>A	ENSP00000410157:p.Ser762Leu	NA		37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314888	0.60524	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60424	0.19;0.19	5.15	5.15	0.70609	.	0.192066	0.46442	D	0.000289	T	0.50514	0.1620	L	0.53249	1.67	0.45852	D	0.998714	P	0.45672	0.864	B	0.31495	0.131	T	0.60652	-0.7221	10	0.54805	T	0.06	-16.6682	18.6197	0.91317	0.0:0.0:1.0:0.0	.	576	Q8N961	ABTB2_HUMAN	L	762;576	ENSP00000410157:S762L;ENSP00000298992:S576L	ENSP00000298992:S576L	S	-	2	0	ABTB2	34139138	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	4.222000	0.58580	2.401000	0.81631	0.561000	0.74099	TCG	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388703.3		-	ENST00000435224.2	Missense_Mutation	SNP	11 : 34182562 - 34182562 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	136	5
ADAMTS15	170689	broad.mit.edu	37	11	130332572	130332572	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:130332572G>T	ENST00000299164.2	+	4	1439	c.1439G>T	c.(1438-1440)tGc>tTc	p.C480F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	480	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAGATGGTGTGCCAGACCCGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	11		NA											NA				130332572		2201	4297	6498	SO:0001583	missense			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106	170689	170689		ADAM metallopeptidases with thrombospondin type 1 motif	16305	protein-coding gene	gene with protein product		607509	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15		NA	11867212	Standard	NM_139055	NM_139055	NA	Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1439G>T	11.37:g.130332572G>T	ENSP00000299164:p.Cys480Phe	NA	Q32MI6	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754975	0.89843	.	.	ENSG00000166106	ENST00000299164	T	0.68765	-0.35	5.48	5.48	0.80851	.	.	.	.	.	D	0.87962	0.6310	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91263	0.5038	9	0.87932	D	0	.	19.3471	0.94367	0.0:0.0:1.0:0.0	.	480	Q8TE58	ATS15_HUMAN	F	480	ENSP00000299164:C480F	ENSP00000299164:C480F	C	+	2	0	ADAMTS15	129837782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.566000	0.86566	0.655000	0.94253	TGC	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385638.1		+	ENST00000299164.2	Missense_Mutation	SNP	11 : 130332572 - 130332572 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	514	10
ADAMTS16	170690	broad.mit.edu	37	5	5182355	5182355	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:5182355C>A	ENST00000274181.7	+	4	838	c.700C>A	c.(700-702)Cac>Aac	p.H234N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H234N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	234					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						TCAACCCCTGCACAGCAGCGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	71			NA	NA	5		NA											NA				5182355		2091	4232	6323	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.700C>A	5.37:g.5182355C>A	ENSP00000274181:p.His234Asn	NA	C6G490|Q8IVE2	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	8.922	0.961376	0.18583	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61392	0.19;0.11	5.04	-2.03	0.07365	.	0.772006	0.11949	N	0.513896	T	0.41627	0.1167	L	0.45581	1.43	0.09310	N	1	B;B;B	0.17038	0.011;0.004;0.02	B;B;B	0.17098	0.011;0.009;0.017	T	0.29488	-1.0010	10	0.15952	T	0.53	.	5.9596	0.19293	0.3613:0.5011:0.0:0.1375	.	234;234;234	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	234	ENSP00000274181:H234N;ENSP00000421631:H234N	ENSP00000274181:H234N	H	+	1	0	ADAMTS16	5235355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.111000	0.15458	-0.120000	0.11809	-0.188000	0.12872	CAC	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365657.1		+	ENST00000274181.7	Missense_Mutation	SNP	5 : 5182355 - 5182355 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	521	178
ADAMTS3	9508	broad.mit.edu	37	4	73205309	73205309	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:73205309C>T	ENST00000286657.4	-	5	799	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	255					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATATTGTAATCGTTTTCTCCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(168;1941 2048 2918 13048 43078)							NA				0													286	273	278			NA	NA	4		NA											NA				73205309		2203	4300	6503	SO:0001583	missense			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	9508	9508	3.4.24.-	ADAM metallopeptidases with thrombospondin type 1 motif	219	protein-coding gene	gene with protein product		605011	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3		NA	10094461	Standard		NM_014243	NA	Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.763G>A	4.37:g.73205309C>T	ENSP00000286657:p.Asp255Asn	NA	A1L3U9|Q9BXZ8	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109068	0.56398	.	.	ENSG00000156140	ENST00000286657	T	0.61274	0.12	5.31	5.31	0.75309	Metallopeptidase, catalytic domain (1);	0.059999	0.64402	D	0.000005	T	0.59128	0.2171	M	0.68593	2.085	0.80722	D	1	B	0.30542	0.284	B	0.28232	0.087	T	0.59836	-0.7379	10	0.48119	T	0.1	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	255	O15072	ATS3_HUMAN	N	255	ENSP00000286657:D255N	ENSP00000286657:D255N	D	-	1	0	ADAMTS3	73424173	0.998000	0.40836	0.992000	0.48379	0.181000	0.23173	3.879000	0.56138	2.763000	0.94921	0.563000	0.77884	GAT	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252164.2		-	ENST00000286657.4	Missense_Mutation	SNP	4 : 73205309 - 73205309 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1103	31
ADAMTSL3	57188	broad.mit.edu	37	15	84652038	84652038	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:84652038C>T	ENST00000286744.5	+	21	3882	c.3658C>T	c.(3658-3660)Ccc>Tcc	p.P1220S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1220S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1220	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTATTACCCCCAGTGAGGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	127	125			NA	NA	15		NA											NA				84652038		2203	4300	6503	SO:0001583	missense			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218	57188	57188		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	14633	protein-coding gene	gene with protein product		609199			NA	9628581, 10574462	Standard	NM_207517	NM_207517	NA	Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3658C>T	15.37:g.84652038C>T	ENSP00000286744:p.Pro1220Ser	NA	A1A566|A1A567|Q9ULI7	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.748472	0.00669	.	.	ENSG00000156218	ENST00000286744	T	0.11821	2.74	5.13	2.9	0.33743	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.674572	0.12270	N	0.483872	T	0.05960	0.0155	N	0.11651	0.15	0.09310	N	1	B;B	0.17268	0.004;0.021	B;B	0.16289	0.007;0.015	T	0.39078	-0.9631	10	0.06236	T	0.91	.	7.8817	0.29627	0.244:0.4028:0.3532:0.0	.	1220;1220	P82987-2;P82987	.;ATL3_HUMAN	S	1220	ENSP00000286744:P1220S	ENSP00000286744:P1220S	P	+	1	0	ADAMTSL3	82443042	0.003000	0.15002	0.046000	0.18839	0.277000	0.26821	1.060000	0.30530	1.245000	0.43885	0.557000	0.71058	CCC	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304007.2		+	ENST00000286744.5	Missense_Mutation	SNP	15 : 84652038 - 84652038 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	779	21
ADCY5	111	broad.mit.edu	37	3	123021988	123021988	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123021988G>A	ENST00000491190.1	-	15	2074	c.1537C>T	c.(1537-1539)Cac>Tac	p.H513Y	ADCY5_ENST00000462833.1_Missense_Mutation_p.H880Y|ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y			O95622	ADCY5_HUMAN	adenylate cyclase 5	880	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCCGCCACGTGACACGCGTTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	51	53			NA	NA	3		NA											NA				123021988		2203	4300	6503	SO:0001583	missense			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	111	111	4.6.1.1	Adenylate cyclases	236	protein-coding gene	gene with protein product		600293			NA	10481931	Standard	XM_171048	NM_183357	NA	Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000491190.1:c.1537C>T	3.37:g.123021988G>A	ENSP00000418537:p.His513Tyr	NA	Q7RTV7|Q8NFM3	37		.	.	.	.	.	.	.	.	.	.	G	12.04	1.819575	0.32145	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.04	5.04	0.67666	.	0.066645	0.64402	D	0.000016	T	0.44074	0.1276	M	0.61703	1.905	0.48135	D	0.999599	B;B	0.14438	0.01;0.001	B;B	0.10450	0.005;0.001	T	0.47045	-0.9147	10	0.02654	T	1	.	18.5817	0.91174	0.0:0.0:1.0:0.0	.	880;513	O95622;B3KWA8	ADCY5_HUMAN;.	Y	880;513;530;439	ENSP00000419361:H880Y;ENSP00000418537:H513Y;ENSP00000308685:H530Y;ENSP00000420082:H439Y	ENSP00000308685:H530Y	H	-	1	0	ADCY5	124504678	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	7.719000	0.84751	2.619000	0.88677	0.561000	0.74099	CAC	ADCY5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355890.1		-	ENST00000491190.1	Missense_Mutation	SNP	3 : 123021988 - 123021988 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	276	6
ADCY5	111	broad.mit.edu	37	3	123010065	123010065	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123010065G>A	ENST00000491190.1	-	20	2733	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	ADCY5_ENST00000462833.1_Silent_p.F1074F|ADCY5_ENST00000309879.5_Silent_p.F724F			O95622	ADCY5_HUMAN	adenylate cyclase 5	1074					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.F1074L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGATGGAGGCGAACATGACCG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											101	80	87			NA	NA	3		NA											NA				123010065		2203	4300	6503	SO:0001819	synonymous_variant			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	111	111	4.6.1.1	Adenylate cyclases	236	protein-coding gene	gene with protein product		600293			NA	10481931	Standard	XM_171048	NM_183357	NA	Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000491190.1:c.2196C>T	3.37:g.123010065G>A		NA	Q7RTV7|Q8NFM3	37																																																																																				ADCY5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000355890.1		-	ENST00000491190.1	Silent	SNP	3 : 123010065 - 123010065 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	465	90
ADORA3	140	broad.mit.edu	37	1	112033386	112033386	+	Splice_Site	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:112033386T>C	ENST00000369716.4	-	2	484		c.e2-2		ADORA3_ENST00000369717.4_Splice_Site	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	NA					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATTCTGAATCTGTTTAAGGGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	72	74			NA	NA	1		NA											NA				112033386		2203	4300	6503	SO:0001630	splice_region_variant			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933	140	140		GPCR / Class A : Adenosine receptors, Immunoglobulin superfamily / V-set domain containing	268	protein-coding gene	gene with protein product		600445			NA	7607699	Standard	NM_000677, NM_020683	NM_020683	NA	Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.351-2A>G	1.37:g.112033386T>C		NA	A2A3P4|Q6UWU0|Q9BYZ1	37	CCDS838.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598438	0.28445	.	.	ENSG00000121933	ENST00000369717;ENST00000369716	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.718	0.34423	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADORA3	111834909	1.000000	0.71417	0.980000	0.43619	0.179000	0.23085	2.961000	0.49168	1.847000	0.53656	0.459000	0.35465	.	ADORA3-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157679.1	Intron	-	ENST00000369716.4	Splice_Site	SNP	1 : 112033386 - 112033386 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	255	6
AFF3	3899	broad.mit.edu	37	2	100623429	100623429	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:100623429G>T	ENST00000409236.2	-	5	650	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	AFF3_ENST00000409579.1_Missense_Mutation_p.Q205K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q205K|AFF3_ENST00000317233.4_Missense_Mutation_p.Q180K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCCGAGGCTGCTGTCTGCCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	50			NA	NA	2		NA											NA				100623429		2203	4300	6503	SO:0001583	missense			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.538C>A	2.37:g.100623429G>T	ENSP00000387207:p.Gln180Lys	NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375513	0.24857	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.36	4.48	0.54585	.	0.250032	0.28317	N	0.015799	T	0.53077	0.1774	N	0.08118	0	0.26248	N	0.978761	B;B;D;B;B	0.59357	0.425;0.372;0.985;0.425;0.372	B;B;D;B;B	0.73708	0.192;0.085;0.981;0.192;0.121	T	0.48258	-0.9051	10	0.06236	T	0.91	.	8.8744	0.35337	0.0751:0.0:0.7765:0.1484	.	334;334;180;180;205	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	K	180;205;205;180;180;334;205	ENSP00000317421:Q180K;ENSP00000348793:Q205K;ENSP00000386834:Q205K;ENSP00000387207:Q180K	ENSP00000317421:Q180K	Q	-	1	0	AFF3	99989861	1.000000	0.71417	0.988000	0.46212	0.886000	0.51366	6.148000	0.71788	1.259000	0.44117	0.585000	0.79938	CAG	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3		-	ENST00000409236.2	Missense_Mutation	SNP	2 : 100623429 - 100623429 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	413	23
AGBL2	79841	broad.mit.edu	37	11	47721004	47721004	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:47721004C>A	ENST00000528244.1	-	7	827	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	AGBL2_ENST00000357610.3_Missense_Mutation_p.D230Y|AGBL2_ENST00000298861.4_Missense_Mutation_p.D230Y|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000525123.1_Missense_Mutation_p.D230Y			Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	230					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATACCTGAATCTAATTGATAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	168	172			NA	NA	11		NA											NA				47721004		2201	4298	6499	SO:0001583	missense				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923	79841	79841			26296	protein-coding gene	gene with protein product	cytoplasmic carboxypeptidase 2				NA	12738998, 21303978	Standard	NM_024783	NM_024783	NA	Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000528244.1:c.574G>T	11.37:g.47721004C>A	ENSP00000436630:p.Asp192Tyr	NA	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	37		.	.	.	.	.	.	.	.	.	.	C	13.45	2.240985	0.39598	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.22	4.28	0.50868	.	0.515698	0.23114	N	0.051766	T	0.27419	0.0673	L	0.59436	1.845	0.32047	N	0.597485	B;B;B	0.28208	0.203;0.129;0.129	B;B;B	0.28784	0.094;0.043;0.043	T	0.38887	-0.9640	10	0.72032	D	0.01	-14.9865	4.6077	0.12385	0.0:0.606:0.1987:0.1952	.	192;192;230	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	Y	230;230;230;192;174;174	ENSP00000435582:D230Y;ENSP00000350228:D230Y;ENSP00000298861:D230Y;ENSP00000436630:D192Y;ENSP00000436063:D174Y	ENSP00000298861:D230Y	D	-	1	0	AGBL2	47677580	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	0.984000	0.29565	1.168000	0.42723	0.393000	0.25936	GAT	AGBL2-003	NOVEL	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383727.1		-	ENST00000528244.1	Missense_Mutation	SNP	11 : 47721004 - 47721004 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	248	9
ALOXE3	59344	broad.mit.edu	37	17	8017832	8017832	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:8017832G>A	ENST00000380149.1	-	5	1148	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	ALOXE3_ENST00000448843.2_Missense_Mutation_p.T217M|ALOXE3_ENST00000318227.3_Missense_Mutation_p.T349M			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	217	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCGAGATCGTCTTGGTGGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	192	150	164		1046,650	4.2	1	17		164	0,8600		0,0,4300	yes	missense,missense	ALOXE3	NM_001165960.1,NM_021628.2	81,81	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	349/844,217/712	8017832	1,13005	2203	4300	6503	SO:0001583	missense			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	59344	59344	1.13.11.-	Arachidonate lipoxygenases	13743	protein-coding gene	gene with protein product		607206			NA		Standard		NM_021628	NA	Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000380149.1:c.1118C>T	17.37:g.8017832G>A	ENSP00000369494:p.Thr373Met	NA	B2R981|Q3ZB74|Q9H4F2|Q9HC22	37		.	.	.	.	.	.	.	.	.	.	G	14.68	2.606478	0.46527	2.27E-4	0.0	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89681	-2.55;-2.55;-2.55	5.22	4.24	0.50183	Lipoxygenase, C-terminal (2);	0.286741	0.39985	N	0.001219	D	0.85932	0.5812	L	0.40543	1.245	0.41066	D	0.985412	P;D;D	0.56746	0.782;0.977;0.977	B;P;P	0.47915	0.189;0.561;0.561	D	0.86119	0.1567	10	0.51188	T	0.08	-16.8023	11.1503	0.48455	0.0899:0.0:0.91:0.0	.	349;217;217	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	M	373;349;217	ENSP00000369494:T373M;ENSP00000314879:T349M;ENSP00000400581:T217M	ENSP00000314879:T349M	T	-	2	0	ALOXE3	7958557	0.997000	0.39634	0.954000	0.39281	0.709000	0.40893	2.843000	0.48238	2.578000	0.87016	0.655000	0.94253	ACG	ALOXE3-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000226983.1		-	ENST00000380149.1	Missense_Mutation	SNP	17 : 8017832 - 8017832 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	364	19
ANKRD42	338699	broad.mit.edu	37	11	82921451	82921451	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:82921451G>A	ENST00000526731.1	+	4	862	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	ANKRD42_ENST00000393392.2_Missense_Mutation_p.R119Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R147Q|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000393389.3_Missense_Mutation_p.R147Q|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R147Q|RP11-727A23.7_ENST00000531869.1_RNA			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	119										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATAATGCTCCGAAGTGGAGTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	143	145			NA	NA	11		NA											NA				82921451		2203	4300	6503	SO:0001583	missense			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494	338699	338699		Ankyrin repeat domain containing	26752	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 79				NA		Standard	NM_182603	XM_005273971	NA	Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000526731.1:c.440G>A	11.37:g.82921451G>A	ENSP00000433585:p.Arg147Gln	NA	Q49A49	37		.	.	.	.	.	.	.	.	.	.	G	19.33	3.806293	0.70682	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;D;T;T;T;T;T	0.81996	-0.06;-1.56;-0.06;-0.06;-0.06;-0.06;-0.06	5.89	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.112713	0.39615	N	0.001304	T	0.71298	0.3323	N	0.13272	0.32	0.36543	D	0.871416	P;P;P;P;D	0.53745	0.838;0.88;0.927;0.906;0.962	B;B;B;B;B	0.43103	0.319;0.213;0.36;0.408;0.319	T	0.75274	-0.3375	9	.	.	.	-0.8612	14.0266	0.64590	0.0734:0.0:0.9266:0.0	.	147;147;412;238;119	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	Q	466;147;34;147;147;147;119;147	ENSP00000377049:R147Q;ENSP00000432375:R34Q;ENSP00000260047:R147Q;ENSP00000433585:R147Q;ENSP00000434666:R147Q;ENSP00000377051:R119Q;ENSP00000435790:R147Q	.	R	+	2	0	ANKRD42	82599099	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	4.787000	0.62432	1.501000	0.48654	0.655000	0.94253	CGA	ANKRD42-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392932.1		+	ENST00000526731.1	Missense_Mutation	SNP	11 : 82921451 - 82921451 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	622	12
AOC2	314	broad.mit.edu	37	17	40997985	40997985	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:40997985G>A	ENST00000253799.3	+	1	1369	c.1342G>A	c.(1342-1344)Ggt>Agt	p.G448S	AOC2_ENST00000452774.2_Missense_Mutation_p.G448S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	448					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTTCTATGGTGGTTTGGCCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	114	117			NA	NA	17		NA											NA				40997985		2203	4300	6503	SO:0001583	missense			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	314	314	1.4.3.21		549	protein-coding gene	gene with protein product		602268			NA	9119395, 9722954	Standard	NM_009590, NM_001158	NM_001158	NA	Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1342G>A	17.37:g.40997985G>A	ENSP00000253799:p.Gly448Ser	NA	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	37	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767027	0.49574	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03580	3.88;3.88	5.46	4.5	0.54988	Copper amine oxidase, C-terminal (3);	0.056784	0.64402	D	0.000001	T	0.15262	0.0368	M	0.82630	2.6	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.81914	0.995;0.987	T	0.34179	-0.9839	10	0.05351	T	0.99	-21.9121	14.1903	0.65635	0.0723:0.0:0.9277:0.0	.	448;448	O75106;O75106-2	AOC2_HUMAN;.	S	448	ENSP00000253799:G448S;ENSP00000406134:G448S	ENSP00000253799:G448S	G	+	1	0	AOC2	38251511	1.000000	0.71417	0.968000	0.41197	0.044000	0.14063	9.556000	0.98127	1.308000	0.44962	-0.229000	0.12294	GGT	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452442.1		+	ENST00000253799.3	Missense_Mutation	SNP	17 : 40997985 - 40997985 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	516	154
ARHGAP32	9743	broad.mit.edu	37	11	128844270	128844270	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:128844270G>A	ENST00000392657.3	-	11	2111	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S853L|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S578L|ARHGAP32_ENST00000310343.9_Missense_Mutation_p.S927L	NM_014715.3	NP_055530.2	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	927					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTGGTATTTGAGACTGTACC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	181	187			NA	NA	11		NA											NA				128844270		2201	4297	6498	SO:0001583	missense			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909	9743	9743		Rho GTPase activating proteins	17399	protein-coding gene	gene with protein product		608541			NA	12446789, 12819203, 17663722	Standard	NM_014715	NM_014715	NA	Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000392657.3:c.1733C>T	11.37:g.128844270G>A	ENSP00000376425:p.Ser578Leu	NA	O94820|Q86YL6|Q8IUG4|Q9BWG3	37	CCDS31718.1	.	.	.	.	.	.	.	.	.	.	G	1.539	-0.542366	0.04053	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.81	5.81	0.92471	.	0.685457	0.14496	N	0.316057	T	0.19005	0.0456	L	0.47716	1.5	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.09422	-1.0675	10	0.27082	T	0.32	.	9.239	0.37484	0.0747:0.0:0.7798:0.1455	.	861;927	Q86T64;A7KAX9	.;RHG32_HUMAN	L	927;578;853;861;578	ENSP00000310561:S927L;ENSP00000376425:S578L;ENSP00000432468:S853L;ENSP00000432862:S578L	ENSP00000310561:S927L	S	-	2	0	ARHGAP32	128349480	0.439000	0.25610	0.010000	0.14722	0.962000	0.63368	3.889000	0.56212	2.745000	0.94114	0.655000	0.94253	TCA	ARHGAP32-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386249.1		-	ENST00000392657.3	Missense_Mutation	SNP	11 : 128844270 - 128844270 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	460	97
ARMC9	80210	broad.mit.edu	37	2	232104753	232104753	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:232104753C>T	ENST00000349938.4	+	9	1072	c.878C>T	c.(877-879)aCg>aTg	p.T293M	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	293							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGGCCTGGGACGGTGAGGCTC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	46	50			NA	NA	2		NA											NA				232104753		2203	4300	6503	SO:0001630	splice_region_variant			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931	80210	80210		Armadillo repeat containing	20730	protein-coding gene	gene with protein product					NA	11347906	Standard	NM_025139	NM_025139	NA	Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.879+1C>T	2.37:g.232104753C>T		NA	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	37	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581425	0.65992	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T;T	0.45276	2.08;0.9	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.66148	-0.5996	10	0.62326	D	0.03	-19.4815	16.518	0.84306	0.0:1.0:0.0:0.0	.	293	Q7Z3E5	ARMC9_HUMAN	M	293;293;47	ENSP00000258417:T293M;ENSP00000407146:T47M	ENSP00000258417:T293M	T	+	2	0	ARMC9	231812997	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.989000	0.76219	2.309000	0.77851	0.561000	0.74099	ACG	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256966.3	Missense_Mutation	+	ENST00000349938.4	Splice_Site	SNP	2 : 232104753 - 232104753 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	122	53
ASRGL1	80150	broad.mit.edu	37	11	62159721	62159721	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:62159721G>A	ENST00000415229.2	+	7	1107	c.892G>A	c.(892-894)Gat>Aat	p.D298N	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298N	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	298					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTTCGGAATTGATCCTGACGA	0.527		NA									OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	85	90			NA	NA	11		NA											NA				62159721		2202	4299	6501	SO:0001583	missense				CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174	80150	80150			16448	protein-coding gene	gene with protein product	asparaginase-like 1 protein	609212			NA		Standard	NM_001083926	NM_025080	NA	Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.892G>A	11.37:g.62159721G>A	ENSP00000400057:p.Asp298Asn	1059	B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	37	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685751	0.14973	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.94650	-3.48;-3.48	5.24	0.102	0.14522	.	0.502864	0.23382	N	0.048795	D	0.86781	0.6015	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73733	-0.3890	10	0.31617	T	0.26	-12.1929	3.3361	0.07102	0.3163:0.0:0.3911:0.2926	.	298	Q7L266	ASGL1_HUMAN	N	298	ENSP00000400057:D298N;ENSP00000301776:D298N	ENSP00000301776:D298N	D	+	1	0	ASRGL1	61916297	0.065000	0.20965	0.001000	0.08648	0.066000	0.16364	0.483000	0.22292	0.210000	0.20664	0.655000	0.94253	GAT	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394865.1		+	ENST00000415229.2	Missense_Mutation	SNP	11 : 62159721 - 62159721 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	464	87
ATP12A	479	broad.mit.edu	37	13	25272886	25272886	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:25272886A>G	ENST00000381946.3	+	12	1770	c.1603A>G	c.(1603-1605)Acc>Gcc	p.T535A	ATP12A_ENST00000218548.6_Missense_Mutation_p.T541A			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	535					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GAAATGCAGCACCATCATGAT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													123	116	119			NA	NA	13		NA											NA				25272886		2203	4300	6503	SO:0001583	missense			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1603A>G	13.37:g.25272886A>G	ENSP00000371372:p.Thr535Ala	NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040502	0.55003	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79845	-1.31;-1.31	6.08	6.08	0.98989	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87680	0.6238	L	0.60845	1.875	0.58432	D	0.999993	B;D	0.62365	0.415;0.991	B;D	0.76071	0.271;0.987	D	0.88592	0.3144	10	0.87932	D	0	.	14.5959	0.68407	1.0:0.0:0.0:0.0	.	541;535	P54707-2;P54707	.;AT12A_HUMAN	A	541;535	ENSP00000218548:T541A;ENSP00000371372:T535A	ENSP00000218548:T541A	T	+	1	0	ATP12A	24170886	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	5.917000	0.69989	2.333000	0.79357	0.533000	0.62120	ACC	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Missense_Mutation	SNP	13 : 25272886 - 25272886 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	489	30
ATP2B2	491	broad.mit.edu	37	3	10442753	10442753	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:10442753A>G	ENST00000397077.1	-	7	1240	c.665T>C	c.(664-666)cTc>cCc	p.L222P	ATP2B2_ENST00000383800.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000360273.2_Missense_Mutation_p.L222P|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000352432.4_Missense_Mutation_p.L222P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	222					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCGGCAGGGAGGAGGTCACC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(125;1619 1709 15675 19819 38835)							NA				0													70	66	67			NA	NA	3		NA											NA				10442753		2203	4300	6503	SO:0001583	missense			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	491	491	3.6.3.8	ATPases / P-type	815	protein-coding gene	gene with protein product	plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2	108733			NA	1313367	Standard	NM_001683	NM_001001331	NA	Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000397077.1:c.665T>C	3.37:g.10442753A>G	ENSP00000380267:p.Leu222Pro	NA	O00766|Q12994|Q16818	37	CCDS2601.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314875	0.81358	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.96098	0.9067	10	0.87932	D	0	-32.0976	15.7913	0.78367	1.0:0.0:0.0:0.0	.	222;234;222	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	P	222;222;222;222;222;188;109;222	ENSP00000324172:L222P;ENSP00000373311:L222P;ENSP00000380267:L222P;ENSP00000353414:L222P;ENSP00000344677:L222P;ENSP00000414854:L109P	ENSP00000342954:L222P	L	-	2	0	ATP2B2	10417753	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.313000	0.96297	2.124000	0.65301	0.528000	0.53228	CTC	ATP2B2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276089.2		-	ENST00000397077.1	Missense_Mutation	SNP	3 : 10442753 - 10442753 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	165	7
B3GALT5	10317	broad.mit.edu	37	21	41032648	41032648	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:41032648G>A	ENST00000380620.4	+	5	754	c.162G>A	c.(160-162)caG>caA	p.Q54Q	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.Q54Q|B3GALT5_ENST00000343118.4_Silent_p.Q54Q|B3GALT5_ENST00000398714.2_Silent_p.Q54Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	NA					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGCAGGCAGACACCTCCCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	80	83			NA	NA	21		NA											NA				41032648		2203	4300	6503	SO:0001819	synonymous_variant			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778	10317	10317		Beta 3-glycosyltransferases	920	protein-coding gene	gene with protein product	homolog of C. elegans Bt toxin resistance gene bre-5, GlcNAc-beta-1,3-galactosyltransferase 5	604066			NA	10212226	Standard	NM_033170	NM_006057	NA	Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.162G>A	21.37:g.41032648G>A		NA	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	37	CCDS13667.1																																																																																			B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195008.2		+	ENST00000380620.4	Silent	SNP	21 : 41032648 - 41032648 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	449	95
BARX2	8538	broad.mit.edu	37	11	129321169	129321169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:129321169C>T	ENST00000281437.4	+	4	808	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	BARX2_ENST00000526127.1_Nonsense_Mutation_p.Q93*|BARX2_ENST00000531946.1_Nonsense_Mutation_p.Q116*	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	238										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGAGCCCTCTCAGGGGCAGGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	62	64			NA	NA	11		NA											NA				129321169		2201	4297	6498	SO:0001587	stop_gained			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039	8538	8538		Homeoboxes / ANTP class : NKL subclass	956	protein-coding gene	gene with protein product		604823	BarH-like homeobox 2		NA	10644443	Standard	NM_003658	NM_003658	NA	Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.712C>T	11.37:g.129321169C>T	ENSP00000281437:p.Gln238*	NA	O43518|Q6NT51	37	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	37	6.365625	0.97507	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	.	.	.	5.51	-0.263	0.12954	.	1.403330	0.03992	N	0.294986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	7.0817	0.25235	0.1156:0.3683:0.445:0.0712	.	.	.	.	X	238;93;116	.	ENSP00000281437:Q238X	Q	+	1	0	BARX2	128826379	0.053000	0.20554	0.001000	0.08648	0.008000	0.06430	0.707000	0.25704	0.268000	0.21939	0.655000	0.94253	CAG	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386153.1		+	ENST00000281437.4	Nonsense_Mutation	SNP	11 : 129321169 - 129321169 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	368	7
BSN	8927	broad.mit.edu	37	3	49690204	49690204	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:49690204G>A	ENST00000296452.4	+	5	3329	c.3215G>A	c.(3214-3216)cGc>cAc	p.R1072H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1072					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCACGGCCCGCAAGACCCGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	39	37			NA	NA	3		NA											NA				49690204		2203	4300	6503	SO:0001583	missense			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061	8927	8927			1117	protein-coding gene	gene with protein product	zinc finger protein 231, neuronal double zinc finger protein	604020	bassoon (presynaptic cytomatrix protein)	ZNF231	NA	9806829, 10329005	Standard	NM_003458	NM_003458	NA	Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3215G>A	3.37:g.49690204G>A	ENSP00000296452:p.Arg1072His	NA	O43161|Q7LGH3	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313063	0.60414	.	.	ENSG00000164061	ENST00000296452	T	0.24151	1.87	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.68952	2.095	0.50171	D	0.999851	D	0.89917	1.0	D	0.71656	0.974	T	0.54476	-0.8288	10	0.72032	D	0.01	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	1072	Q9UPA5	BSN_HUMAN	H	1072	ENSP00000296452:R1072H	ENSP00000296452:R1072H	R	+	2	0	BSN	49665208	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.807000	0.99171	2.357000	0.79964	0.561000	0.74099	CGC	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258164.1		+	ENST00000296452.4	Missense_Mutation	SNP	3 : 49690204 - 49690204 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	193	5
C10orf71	118461	broad.mit.edu	37	10	50531971	50531971	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:50531971G>C	ENST00000374144.3	+	3	1669	c.1381G>C	c.(1381-1383)Gac>Cac	p.D461H	C10orf71_ENST00000323868.4_Missense_Mutation_p.D461H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	461			D -> A (in dbSNP:rs45554335).							endometrium(1)	1						GGATTCAGCAGACAGCCAGCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	53	52			NA	NA	10		NA											NA				50531971		2082	4233	6315	SO:0001583	missense			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354	118461	118461			26973	protein-coding gene	gene with protein product					NA		Standard	NM_199459	NM_001135196	NA	Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1381G>C	10.37:g.50531971G>C	ENSP00000363259:p.Asp461His	NA	A0AVL8	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	1.808	-0.475281	0.04414	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16897	2.31;3.44	5.3	0.937	0.19494	.	1.161450	0.06649	N	0.762440	T	0.18882	0.0453	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.34601	-0.9822	10	0.72032	D	0.01	.	6.9192	0.24378	0.2294:0.1223:0.6483:0.0	.	461	Q711Q0-3	.	H	461	ENSP00000318713:D461H;ENSP00000363259:D461H	ENSP00000318713:D461H	D	+	1	0	C10orf71	50201977	0.884000	0.30299	0.000000	0.03702	0.001000	0.01503	3.496000	0.53288	-0.096000	0.12329	0.650000	0.86243	GAC	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047984.2		+	ENST00000374144.3	Missense_Mutation	SNP	10 : 50531971 - 50531971 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	257	77
C7orf43	55262	broad.mit.edu	37	7	99755385	99755385	+	Splice_Site	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99755385T>A	ENST00000316937.3	-	3	693	c.508A>T	c.(508-510)Att>Ttt	p.I170F	C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	170										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCACTACAATCTGTCAAGAG	0.527		NA									OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	104	104			NA	NA	7		NA											NA				99755385		2203	4300	6503	SO:0001630	splice_region_variant				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826	55262	55262			25604	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018275	NM_018275	NA	Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.508-1A>T	7.37:g.99755385T>A		1346	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	37	CCDS5687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.035638|4.035638	0.75617|0.75617	.|.	.|.	ENSG00000146826|ENSG00000146826	ENST00000456769|ENST00000316937	.|T	.|0.33216	.|1.42	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.072818	.|0.56097	.|D	.|0.000030	T|T	0.31544|0.31544	0.0800|0.0800	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.51866	.|0.682	T|T	0.10730|0.10730	-1.0617|-1.0617	5|10	.|0.72032	.|D	.|0.01	-9.3115|-9.3115	14.1012|14.1012	0.65056|0.65056	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|170	.|Q8WVR3	.|CG043_HUMAN	V|F	75|170	.|ENSP00000324741:I170F	.|ENSP00000324741:I170F	D|I	-|-	2|1	0|0	C7orf43|C7orf43	99593321|99593321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	3.517000|3.517000	0.53443|0.53443	2.217000|2.217000	0.71921|0.71921	0.379000|0.379000	0.24179|0.24179	GAT|ATT	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337395.2	Missense_Mutation	-	ENST00000316937.3	Splice_Site	SNP	7 : 99755385 - 99755385 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	820	186
CADM4	199731	broad.mit.edu	37	19	44129317	44129317	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:44129317G>A	ENST00000222374.2	-	7	889	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	281	Ig-like C2-type 2.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCGGATACCAGACCCGGCAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	46	49			NA	NA	19		NA											NA				44129317		2203	4300	6503	SO:0001819	synonymous_variant			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767	199731	199731		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	30825	protein-coding gene	gene with protein product	nectin-like 4	609744	immunoglobulin superfamily, member 4C	IGSF4C	NA	11536053	Standard	NM_145296	NM_145296	NA	Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.841C>T	19.37:g.44129317G>A		NA	B2R7L5|Q9Y4A4	37	CCDS12627.1																																																																																			CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463352.1		-	ENST00000222374.2	Silent	SNP	19 : 44129317 - 44129317 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	290	12
CASP2	835	broad.mit.edu	37	7	143002066	143002066	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:143002066G>T	ENST00000310447.5	+	11	1502	c.1261G>T	c.(1261-1263)Gct>Tct	p.A421S	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	421					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGAAGGTTATGCTCCTGGCAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	81	86			NA	NA	7		NA											NA				143002066		2203	4300	6503	SO:0001583	missense			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144	835	835		Caspases, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	1503	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 57	600639	neural precursor cell expressed, developmentally down-regulated 2	NEDD2	NA	7789948, 8780721	Standard	NM_032982	NM_032982	NA	Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1261G>T	7.37:g.143002066G>T	ENSP00000312664:p.Ala421Ser	NA	A8K5F9|D3DXD6|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9	37	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219130	0.95104	.	.	ENSG00000106144	ENST00000310447	T	0.29142	1.58	5.27	5.27	0.74061	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	N	0.11789	0.175	0.80722	D	1	D	0.59357	0.985	P	0.62560	0.904	T	0.03887	-1.0995	10	0.06494	T	0.89	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	421	P42575	CASP2_HUMAN	S	421	ENSP00000312664:A421S	ENSP00000312664:A421S	A	+	1	0	CASP2	142712188	1.000000	0.71417	0.963000	0.40424	0.944000	0.59088	9.394000	0.97261	2.478000	0.83669	0.650000	0.86243	GCT	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059962.3		+	ENST00000310447.5	Missense_Mutation	SNP	7 : 143002066 - 143002066 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	371	102
CD96	10225	broad.mit.edu	37	3	111286413	111286413	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:111286413G>C	ENST00000352690.4	+	3	702	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CD96_ENST00000438817.2_Missense_Mutation_p.E154D|CD96_ENST00000283285.5_Missense_Mutation_p.E154D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	154					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGAAATAGAGATAAATCAGA	0.368		NA							Opitz Trigonocephaly syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	90	93			NA	NA	3		NA											NA				111286413		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283	NA	10225		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	16892	protein-coding gene	gene with protein product		606037	CD96 antigen		NA	1313846	Standard		XR_241462	NA	Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000352690.4:c.462G>C	3.37:g.111286413G>C	ENSP00000342040:p.Glu154Asp	NA	Q5JPB3	37	CCDS2958.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628223	0.28978	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.66099	1.65;-0.19;1.65	5.37	2.35	0.29111	Immunoglobulin subtype (1);	0.968819	0.08496	N	0.937108	T	0.42381	0.1200	L	0.27053	0.805	0.20563	N	0.999889	P;P;P;B	0.37781	0.608;0.557;0.608;0.421	B;B;B;B	0.34242	0.115;0.178;0.115;0.086	T	0.21895	-1.0232	10	0.19590	T	0.45	-0.5288	4.485	0.11785	0.2025:0.1855:0.6119:0.0	.	154;154;154;154	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	D	154	ENSP00000342040:E154D;ENSP00000283285:E154D;ENSP00000389801:E154D	ENSP00000283285:E154D	E	+	3	2	CD96	112769103	1.000000	0.71417	0.973000	0.42090	0.941000	0.58515	2.051000	0.41307	0.812000	0.34326	-0.157000	0.13467	GAG	CD96-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354313.2		+	ENST00000352690.4	Missense_Mutation	SNP	3 : 111286413 - 111286413 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	283	13
CD97	976	broad.mit.edu	37	19	14515219	14515219	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:14515219G>A	ENST00000242786.5	+	13	1554	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	CD97_ENST00000357355.3_Missense_Mutation_p.E443K|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E399K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	492	GPS.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCACGGCAGGAGCTGCTCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	92	91			NA	NA	19		NA											NA				14515219		2203	4298	6501	SO:0001583	missense				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146	976	976		CD molecules, -, GPCR / Class B : Orphans	1711	protein-coding gene	gene with protein product	leukocyte antigen CD97, seven-span transmembrane protein, seven-transmembrane, heterodimeric receptor associated with inflammation, seven transmembrane helix receptor	601211	CD97 antigen		NA	7636245, 8786105	Standard	NM_078481	NM_078481	NA	Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1474G>A	19.37:g.14515219G>A	ENSP00000242786:p.Glu492Lys	NA	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118085	0.56505	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70399	-0.48;-0.38;-0.0	5.22	4.19	0.49359	GPS domain (2);	.	.	.	.	T	0.68668	0.3026	L	0.35487	1.065	0.19775	N	0.999955	D;D;B	0.69078	0.987;0.997;0.176	P;P;B	0.61592	0.814;0.891;0.122	T	0.57004	-0.7885	9	0.02654	T	1	.	11.2011	0.48741	0.0884:0.0:0.9116:0.0	.	399;443;492	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	K	492;443;399;442	ENSP00000242786:E492K;ENSP00000349918:E443K;ENSP00000351413:E399K	ENSP00000242786:E492K	E	+	1	0	CD97	14376219	0.983000	0.35010	0.187000	0.23214	0.280000	0.26924	1.237000	0.32695	1.435000	0.47434	0.655000	0.94253	GAG	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459821.2		+	ENST00000242786.5	Missense_Mutation	SNP	19 : 14515219 - 14515219 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	731	244
CDC42	998	broad.mit.edu	37	1	22416480	22416480	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:22416480C>T	ENST00000315554.8	+	6	635	c.531C>T	c.(529-531)ctC>ctT	p.L177L	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000344548.3_Intron|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_Intron	NM_044472.2	NP_426359.1	P60953	CDC42_HUMAN	cell division cycle 42	177					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TAGCTGCCCTCGAGCCTCCGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	97	104			NA	NA	1		NA											NA				22416480		2203	4300	6503	SO:0001819	synonymous_variant			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831	998	998			1736	protein-coding gene	gene with protein product	GTP binding protein, 25kDa	116952	cell division cycle 42 (GTP-binding protein, 25kD), cell division cycle 42 (GTP binding protein, 25kDa)		NA	2124704, 2122236	Standard	NM_001791	NM_001039802	NA	Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000315554.8:c.531C>T	1.37:g.22416480C>T		NA	P21181|P25763|Q7L8R5|Q9UDI2	37	CCDS222.1																																																																																			CDC42-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008075.1		+	ENST00000315554.8	Silent	SNP	1 : 22416480 - 22416480 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	321	47
CDH22	64405	broad.mit.edu	37	20	44828152	44828152	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:44828152C>G	ENST00000372262.3	-	7	1733	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H	CDH22_ENST00000537909.1_Missense_Mutation_p.D445H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	445	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTGTCCGCATCGATATCGAAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	50	55			NA	NA	20		NA											NA				44828152		2203	4300	6503	SO:0001583	missense			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654	64405	64405		Cadherins / Major cadherins	13251	protein-coding gene	gene with protein product		609920	cadherin-like 22	C20orf25	NA	8626716	Standard	NM_021248	NM_021248	NA	Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1333G>C	20.37:g.44828152C>G	ENSP00000361336:p.Asp445His	NA	B9EGK7|O43205	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183686	0.57800	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.65732	-0.17;-0.17	5.0	4.06	0.47325	Cadherin (4);Cadherin-like (1);	0.054615	0.64402	D	0.000001	T	0.78142	0.4237	M	0.83118	2.625	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.78494	-0.2182	10	0.42905	T	0.14	.	11.1009	0.48174	0.0:0.9137:0.0:0.0863	.	445	Q9UJ99	CAD22_HUMAN	H	445	ENSP00000361336:D445H;ENSP00000437790:D445H	ENSP00000361336:D445H	D	-	1	0	CDH22	44261559	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.606000	0.61126	1.228000	0.43614	0.555000	0.69702	GAT	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080491.1		-	ENST00000372262.3	Missense_Mutation	SNP	20 : 44828152 - 44828152 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	196	14
CENPT	80152	broad.mit.edu	37	16	67865088	67865088	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:67865088C>G	ENST00000562787.1	-	10	1252				CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000445712.2_Missense_Mutation_p.W142S|CENPT_ENST00000562947.1_Intron	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	NA					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GAGCTTTCCCCAAAGGCCAGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	94	92			NA	NA	16		NA											NA				67865088		1994	4172	6166	SO:0001627	intron_variant			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901	80152	80152			25787	protein-coding gene	gene with protein product		611510	chromosome 16 open reading frame 56	C16orf56	NA	16622420, 16622419	Standard	NM_025082	NM_025082	NA	Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.703+30G>C	16.37:g.67865088C>G		NA	Q96I29|Q96IC6|Q96NK9|Q9H901	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241164	0.58995	.	.	ENSG00000102901	ENST00000445712	T	0.47869	0.83	4.8	2.81	0.32909	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	B	0.22909	0.077	B	0.19391	0.025	T	0.32348	-0.9910	8	0.87932	D	0	.	6.6649	0.23035	0.0:0.7202:0.1813:0.0985	.	142	B4DMP9	.	S	142	ENSP00000411594:W142S	ENSP00000411594:W142S	W	-	2	0	CENPT	66422589	0.003000	0.15002	0.007000	0.13788	0.479000	0.33129	1.173000	0.31920	0.562000	0.29204	0.555000	0.69702	TGG	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422020.1		-	ENST00000562787.1	Intron	SNP	16 : 67865088 - 67865088 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	809	163
CERK	64781	broad.mit.edu	37	22	47087589	47087589	+	Silent	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:47087589G>T	ENST00000216264.8	-	11	1324	c.1212C>A	c.(1210-1212)ccC>ccA	p.P404P	CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Silent_p.P206P	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	404					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGGCCCCTGGGGCTCCGGC	0.557		NA											N	1	5e-04	NA	0.0028	2184	NA	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.8078	EXOME	NA	NA	5e-04	SNP								NA				0													49	46	47			NA	NA	22		NA											NA				47087589		2202	4300	6502	SO:0001819	synonymous_variant			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422	64781	64781			19256	protein-coding gene	gene with protein product		610307			NA	11956206, 11258795	Standard	NM_022766	NM_022766	NA	Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1212C>A	22.37:g.47087589G>T		NA	A0JNT4|A8K611|Q9BYB3|Q9UGE5	37	CCDS14077.1																																																																																			CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317924.2		-	ENST00000216264.8	Silent	SNP	22 : 47087589 - 47087589 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	445	82
CHL1	10752	broad.mit.edu	37	3	367698	367698	+	Missense_Mutation	SNP	G	G	A	rs150837773		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:367698G>A	ENST00000256509.2	+	4	790	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CHL1_ENST00000397491.2_Missense_Mutation_p.D50N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	50	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTTCCCTTCGATGAGTATTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP	0,4404		0,0,2202	86	87	87		148	5.7	0.9	3	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHL1	NM_006614.2	23	0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	50/1225	367698	1,13003	2202	4300	6502	SO:0001583	missense			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121	10752	10752		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	1939	protein-coding gene	gene with protein product	neural cell adhesion molecule, close homolog of L1	607416	cell adhesion molecule with homology to L1CAM (close homologue of L1), cell adhesion molecule with homology to L1CAM (close homolog of L1)		NA	9799093	Standard	NM_006614	NM_006614	NA	Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.148G>A	3.37:g.367698G>A	ENSP00000256509:p.Asp50Asn	NA	B7ZL03|Q2M3G2|Q59FY0	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724427	0.89298	0.0	1.16E-4	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;T;T;D	0.95885	-0.27;-0.27;0.19;-0.27;-0.27;-3.84	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182770	0.46145	D	0.000309	D	0.96719	0.8929	L	0.45744	1.44	0.53688	D	0.999976	D;D;D	0.89917	0.992;1.0;1.0	P;D;D	0.87578	0.808;0.998;0.995	D	0.96379	0.9280	10	0.45353	T	0.12	.	17.9886	0.89162	0.0:0.0:1.0:0.0	.	50;50;50	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	N	50	ENSP00000256509:D50N;ENSP00000380628:D50N;ENSP00000403311:D50N;ENSP00000413628:D50N;ENSP00000397445:D50N;ENSP00000390440:D50N	ENSP00000256509:D50N	D	+	1	0	CHL1	342698	1.000000	0.71417	0.950000	0.38849	0.738000	0.42128	7.870000	0.87175	2.669000	0.90835	0.551000	0.68910	GAT	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207155.2		+	ENST00000256509.2	Missense_Mutation	SNP	3 : 367698 - 367698 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	263	12
CLK2	1196	broad.mit.edu	37	1	155233761	155233761	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:155233761C>G	ENST00000368361.4	-	12	1612	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	CLK2_ENST00000536801.1_Missense_Mutation_p.E433Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E431Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E432Q			P49760	CLK2_HUMAN	CDC-like kinase 2	433	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGCAGTTCTCACGAACATAG	0.542		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	96	93			NA	NA	1		NA											NA				155233761		2203	4300	6503	SO:0001583	missense			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444	1196	1196		CDC-like kinases	2069	protein-coding gene	gene with protein product		602989			NA	7990150, 9856501	Standard	NM_003993	XM_005244876	NA	Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1297G>C	1.37:g.155233761C>G	ENSP00000357345:p.Glu433Gln	NA	B1AVS9|B5MBX6|Q96CQ0	37		.	.	.	.	.	.	.	.	.	.	.	18.88	3.717852	0.68844	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.2	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100176	0.64402	D	0.000002	T	0.09905	0.0243	N	0.21324	0.655	0.80722	D	1	B;B	0.31174	0.114;0.311	B;B	0.35770	0.093;0.21	T	0.11421	-1.0588	10	0.54805	T	0.06	.	15.6036	0.76646	0.0:1.0:0.0:0.0	.	433;432	P49760;P49760-3	CLK2_HUMAN;.	Q	432;433;431;205;433	ENSP00000354856:E432Q;ENSP00000357345:E433Q;ENSP00000347759:E431Q;ENSP00000441023:E433Q	ENSP00000347759:E431Q	E	-	1	0	CLK2	153500385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.334000	0.79466	0.561000	0.74099	GAG	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000087391.1		-	ENST00000368361.4	Missense_Mutation	SNP	1 : 155233761 - 155233761 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	880	168
CLUL1	27098	broad.mit.edu	37	18	641458	641458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:641458G>T	ENST00000581619.1	+	7	2048	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*	CLUL1_ENST00000400606.2_Nonsense_Mutation_p.E376*|CLUL1_ENST00000579494.1_Nonsense_Mutation_p.E376*|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000540035.1_Nonsense_Mutation_p.E428*|CLUL1_ENST00000338387.7_Nonsense_Mutation_p.E376*			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	376					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CTATCTGGTGGAGAAGATGAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	113	115			NA	NA	18		NA											NA				641458		1945	4140	6085	SO:0001587	stop_gained			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101	27098	27098			2096	protein-coding gene	gene with protein product					NA	10675623, 14507903	Standard		NM_199167	NA	Approved		uc002kkq.3	Q15846		ENST00000581619.1:c.1201G>T	18.37:g.641458G>T	ENSP00000463269:p.Glu401*	NA		37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.116170	0.77323	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	.	.	.	5.59	2.63	0.31362	.	0.469100	0.24352	N	0.039263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-1.5628	3.4341	0.07440	0.1012:0.307:0.4344:0.1574	.	.	.	.	X	376;428;376	.	ENSP00000341128:E376X	E	+	1	0	CLUL1	631458	0.995000	0.38212	0.832000	0.32986	0.062000	0.15995	0.684000	0.25364	0.676000	0.31285	0.563000	0.77884	GAG	CLUL1-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000441185.3		+	ENST00000581619.1	Nonsense_Mutation	SNP	18 : 641458 - 641458 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	503	9
CNTNAP4	85445	broad.mit.edu	37	16	76572111	76572111	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:76572111C>T	ENST00000476707.1	+	18	3242	c.3103C>T	c.(3103-3105)Cat>Tat	p.H1035Y	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.H1031Y|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1032					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTTCATTTCATGGTGATAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	16		NA											NA				76572111		1824	4094	5918	SO:0001583	missense			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910	85445	85445			18747	protein-coding gene	gene with protein product		610518			NA	12093160	Standard	NM_033401	NM_033401	NA	Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3103C>T	16.37:g.76572111C>T	ENSP00000417628:p.His1035Tyr	NA		37		.	.	.	.	.	.	.	.	.	.	C	7.133	0.580282	0.13686	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.42821	D	0.000643	T	0.25195	0.0612	.	.	.	0.37798	D	0.927591	B;B;B	0.14805	0.001;0.001;0.011	B;B;B	0.15052	0.002;0.002;0.012	T	0.12630	-1.0540	9	0.09338	T	0.73	.	12.9629	0.58468	0.0:0.9168:0.0:0.0832	.	959;1035;1032	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	Y	1031;983;959;1035	ENSP00000306893:H1031Y;ENSP00000439733:H983Y;ENSP00000418741:H959Y;ENSP00000417628:H1035Y	ENSP00000306893:H1031Y	H	+	1	0	CNTNAP4	75129612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.793000	0.47845	2.769000	0.95229	0.655000	0.94253	CAT	CNTNAP4-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000348216.1		+	ENST00000476707.1	Missense_Mutation	SNP	16 : 76572111 - 76572111 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	346	90
COG3	83548	broad.mit.edu	37	13	46054424	46054425	+	Splice_Site	INS	-	-	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46054424_46054425insG	ENST00000349995.5	+	4	660_661	c.548_549insG	c.(547-552)cagtcg>caGgtcg	p.S184fs		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	184					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTAAAAGAACAGGTAATTTGGA	0.332		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(150;1048 1859 18083 21577 42700)							NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152	83548	83548		Components of oligomeric golgi complex	18619	protein-coding gene	gene with protein product		606975			NA	11980916	Standard		NM_031431	NA	Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.549+1->G	13.37:g.46054426_46054426dupG		NA	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	37	CCDS9398.1																																																																																			COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044777.2	Frame_Shift_Ins	+	ENST00000349995.5	Splice_Site	INS	13 : 46054424 - 46054425 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	306	85
COL24A1	255631	broad.mit.edu	37	1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	138	141			NA	NA	1		NA											NA				86313406		1865	4091	5956	SO:0001583	missense			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502	255631	255631		Collagens	20821	protein-coding gene	gene with protein product		610025			NA		Standard	NM_152890	NM_152890	NA	Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3404C>A	1.37:g.86313406G>T	ENSP00000359603:p.Pro1135His	NA	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	4.161	0.028325	0.08054	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.98701	-5.08;-5.08	5.53	4.62	0.57501	.	0.000000	0.38058	N	0.001839	D	0.96898	0.8987	M	0.80982	2.52	0.22552	N	0.998991	B;B	0.25904	0.137;0.042	B;B	0.38683	0.279;0.007	D	0.95224	0.8336	10	0.48119	T	0.1	.	7.2398	0.26090	0.081:0.0:0.6546:0.2643	.	1135;1135	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	H	1135	ENSP00000359603:P1135H;ENSP00000392531:P1135H	ENSP00000359603:P1135H	P	-	2	0	COL24A1	86085994	0.874000	0.30092	0.978000	0.43139	0.377000	0.30045	3.233000	0.51311	1.343000	0.45638	-0.224000	0.12420	CCT	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029335.4		-	ENST00000370571.2	Missense_Mutation	SNP	1 : 86313406 - 86313406 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	683	236
COL3A1	1281	broad.mit.edu	37	2	189868505	189868505	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:189868505G>A	ENST00000304636.3	+	38	2823	c.2653G>A	c.(2653-2655)Ggt>Agt	p.G885S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	885	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTCCTGGTAGTAATGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	132	133			NA	NA	2		NA											NA				189868505		2203	4300	6503	SO:0001583	missense			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542	1281	1281		Collagens	2201	protein-coding gene	gene with protein product		120180	Ehlers-Danlos syndrome type IV, autosomal dominant	EDS4A	NA	2780304, 2834369	Standard	NM_000090	NM_000090	NA	Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2653G>A	2.37:g.189868505G>A	ENSP00000304408:p.Gly885Ser	NA	D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087492	0.76642	.	.	ENSG00000168542	ENST00000304636	D	0.99607	-6.27	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000071	D	0.99718	0.9891	H	0.97077	3.935	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	D	0.97479	1.0046	10	0.87932	D	0	.	13.6693	0.62416	0.0738:0.0:0.9262:0.0	.	885	P02461	CO3A1_HUMAN	S	885	ENSP00000304408:G885S	ENSP00000304408:G885S	G	+	1	0	COL3A1	189576750	1.000000	0.71417	0.983000	0.44433	0.893000	0.52053	7.914000	0.87478	2.590000	0.87494	0.551000	0.68910	GGT	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255899.3		+	ENST00000304636.3	Missense_Mutation	SNP	2 : 189868505 - 189868505 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	376	14
CROCC	9696	broad.mit.edu	37	1	17271988	17271988	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:17271988C>T	ENST00000375541.5	+	15	2092	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	675					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAAGGGAAGCGCTCAGTCCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453	9696	9696			21299	protein-coding gene	gene with protein product	rootletin, ciliary rootlet protein	615776			NA	12427867, 17971504	Standard	NM_014675	XM_006711056	NA	Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2023C>T	1.37:g.17271988C>T	ENSP00000364691:p.Arg675Cys	NA	Q2VHY3|Q66GT7|Q7Z2L4|Q7Z5D7	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885565	0.51908	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10382	2.88	5.01	4.02	0.46733	.	.	.	.	.	T	0.25717	0.0626	L	0.57536	1.79	0.48511	D	0.999665	D;D	0.89917	1.0;1.0	D;P	0.64410	0.925;0.878	T	0.00206	-1.1920	9	0.46703	T	0.11	.	13.6849	0.62511	0.1552:0.8448:0.0:0.0	.	538;675	A1L0S8;Q5TZA2	.;CROCC_HUMAN	C	675;556	ENSP00000364691:R675C	ENSP00000364691:R675C	R	+	1	0	CROCC	17144575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.659000	0.37387	2.712000	0.92718	0.561000	0.74099	CGC	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006249.2		+	ENST00000375541.5	Missense_Mutation	SNP	1 : 17271988 - 17271988 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	162	11
CTAGE1	64693	broad.mit.edu	37	18	19996570	19996570	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:19996570C>T	ENST00000391403.2	-	1	1308	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	402						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGCTCGCTTTCGGTAGGTCTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	94	90			NA	NA	18		NA											NA				19996570		2175	4287	6462	SO:0001583	missense			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710	64693	64693			24346	protein-coding gene	gene with protein product	cutaneous T-cell lymphoma-associated antigen 1, cutaneous T-cell lymphoma-associated antigen 2, cancer/testis antigen family 21, member 1, cancer/testis antigen family 21, member 2	608856			NA	11149944, 12839582	Standard	NM_022663, NM_172241	NM_172241	NA	Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6		ENST00000391403.2:c.1205G>A	18.37:g.19996570C>T	ENSP00000375220:p.Arg402Gln	NA	A2RUF2	37	CCDS45837.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149825	0.37923	.	.	ENSG00000212710	ENST00000391403	T	0.45276	0.9	1.09	0.0992	0.14501	.	.	.	.	.	T	0.59662	0.2210	M	0.83953	2.67	0.09310	N	0.999992	D	0.89917	1.0	D	0.71656	0.974	T	0.47169	-0.9138	8	.	.	.	.	5.0423	0.14465	0.0:0.6186:0.3814:0.0	.	402	Q96RT6	CTGE2_HUMAN	Q	402	ENSP00000375220:R402Q	.	R	-	2	0	CTAGE1	18250568	0.435000	0.25577	0.141000	0.22245	0.004000	0.04260	0.814000	0.27239	0.014000	0.14944	-0.482000	0.04802	CGA	CTAGE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386768.3		-	ENST00000391403.2	Missense_Mutation	SNP	18 : 19996570 - 19996570 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	829	44
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	H, Mis, T	PLAG1	colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma				Pilomatrixoma, Familial Clustering of					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	catenin (cadherin-associated protein), beta 1		E, M, O	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)											89	77	81			NA	NA	3		NA											NA				41266124		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036	1499	1499		Armadillo repeat containing	2514	protein-coding gene	gene with protein product		116806	catenin (cadherin-associated protein), beta 1 (88kD)	CTNNB	NA	7829088	Standard	NM_001098210	NM_001098210	NA	Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala	NA	A8K1L7|Q8NEW9|Q8NI94|Q9H391	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254182.2		+	ENST00000349496.5	Missense_Mutation	SNP	3 : 41266124 - 41266124 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	241	112
CUBN	8029	broad.mit.edu	37	10	16918924	16918924	+	Silent	SNP	G	G	A	rs140524729	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:16918924G>A	ENST00000377833.4	-	57	9143	c.9078C>T	c.(9076-9078)ttC>ttT	p.F3026F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3026	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTGAATCCGAAGTCTGTGA	0.443		NA											G	7	0.0032	0.01	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	0.0034	0.9626	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0								G		6,4400	11.4+/-27.6	0,6,2197	90	85	87		9078	-11.6	0	10	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUBN	NM_001081.3		0,7,6496	AA,AG,GG	NA	0.0116,0.1362,0.0538		3026/3624	16918924	7,12999	2203	4300	6503	SO:0001819	synonymous_variant			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9078C>T	10.37:g.16918924G>A		NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1																																																																																			CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Silent	SNP	10 : 16918924 - 16918924 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	554	112
CYP11B1	1584	broad.mit.edu	37	8	143958530	143958530	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143958530G>A	ENST00000377675.3	-	5	723	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CYP11B1_ENST00000292427.4_Silent_p.F168F|CYP11B1_ENST00000517471.1_Silent_p.F168F			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	168					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCCTGGGAGAAGTCCCTGG	0.612		NA							Familial Hyperaldosteronism type I					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	44	45			NA	NA	8		NA											NA				143958530		2203	4298	6501	SO:0001819	synonymous_variant	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	NA	1584	1.14.15.4	Cytochrome P450s	2591	protein-coding gene	gene with protein product	steroid 11-beta-monooxygenase	610613	cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1	CYP11B	NA	1303253	Standard		XM_005250807	NA	Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000377675.3:c.717C>T	8.37:g.143958530G>A		NA	Q14095|Q4VAQ8|Q9UML2	37																																																																																				CYP11B1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379655.1		-	ENST00000377675.3	Silent	SNP	8 : 143958530 - 143958530 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	247	5
CYP2R1	120227	broad.mit.edu	37	11	14913531	14913531	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:14913531C>G	ENST00000334636.5	-	1	267	c.221G>C	c.(220-222)gGa>gCa	p.G74A		NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	74					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTGTACCTCTCCGTACACCTG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(173;1584 2058 26117 29365 41534)							NA				0													23	25	24			NA	NA	11		NA											NA				14913531		2200	4294	6494	SO:0001583	missense			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104	120227	120227		Cytochrome P450s	20580	protein-coding gene	gene with protein product		608713			NA	12464240, 12867411	Standard	NM_024514	XM_005252788	NA	Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.221G>C	11.37:g.14913531C>G	ENSP00000334592:p.Gly74Ala	NA	Q2M3H3|Q5RT65	37	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301978	0.95601	.	.	ENSG00000186104	ENST00000334636	D	0.86230	-2.09	5.12	5.12	0.69794	.	0.053179	0.85682	D	0.000000	D	0.95730	0.8611	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96785	0.9578	10	0.87932	D	0	.	18.7483	0.91802	0.0:1.0:0.0:0.0	.	74	Q6VVX0	CP2R1_HUMAN	A	74	ENSP00000334592:G74A	ENSP00000334592:G74A	G	-	2	0	CYP2R1	14870107	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.224000	0.65288	2.665000	0.90641	0.462000	0.41574	GGA	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386985.1		-	ENST00000334636.5	Missense_Mutation	SNP	11 : 14913531 - 14913531 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	155	57
DACH1	1602	broad.mit.edu	37	13	72049296	72049296	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:72049296G>A	ENST00000305425.4	-	10	2488	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	DACH1_ENST00000359684.2_Missense_Mutation_p.T741I|DACH1_ENST00000354591.4_Missense_Mutation_p.T487I|DACH1_ENST00000313174.7_Missense_Mutation_p.T541I	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	739	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCAGCATCTGTTCTGCCGCC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	86	86			NA	NA	13		NA											NA				72049296		1872	4111	5983	SO:0001583	missense			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644	1602	1602			2663	protein-coding gene	gene with protein product		603803	dachshund homolog (Drosophila), dachshund homolog 1 (Drosophila)	DACH	NA	9933575, 10395809, 15057823	Standard	NM_004392	NM_004392	NA	Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000305425.4:c.2066C>T	13.37:g.72049296G>A	ENSP00000304994:p.Thr689Ile	NA	O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	37	CCDS41899.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172072	0.78452	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.34072	1.41;1.42;1.42;1.38	5.62	5.62	0.85841	.	0.051334	0.85682	D	0.000000	T	0.57975	0.2090	M	0.62723	1.935	0.42123	D	0.991431	D;D;D	0.69078	0.977;0.997;0.978	P;D;P	0.66602	0.787;0.945;0.815	T	0.53968	-0.8363	10	0.40728	T	0.16	-6.4987	19.6611	0.95871	0.0:0.0:1.0:0.0	.	485;539;687	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	I	689;541;487;741;741	ENSP00000304994:T689I;ENSP00000318506:T541I;ENSP00000346604:T487I;ENSP00000352712:T741I	ENSP00000304994:T689I	T	-	2	0	DACH1	70947297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.643000	0.89663	0.655000	0.94253	ACA	DACH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045239.1		-	ENST00000305425.4	Missense_Mutation	SNP	13 : 72049296 - 72049296 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	386	98
DBT	1629	broad.mit.edu	37	1	100701025	100701025	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:100701025C>G	ENST00000370132.4	-	3	231	c.218G>C	c.(217-219)gGa>gCa	p.G73A	DBT_ENST00000370131.3_Missense_Mutation_p.G73A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	NA	Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AATCCCTTCTCCAATGTCTGA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	1		NA											NA				100701025		2203	4298	6501	SO:0001583	missense			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992	1629	1629			2698	protein-coding gene	gene with protein product		248610	dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)		NA	1420314, 1429740	Standard	NM_001918	NM_001918	NA	Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.218G>C	1.37:g.100701025C>G	ENSP00000359151:p.Gly73Ala	NA	B2R811|Q5VVL8	37	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843596	0.91197	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.73681	-0.77;-0.77	5.62	5.62	0.85841	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.90103	0.4186	10	0.87932	D	0	-22.3909	20.0205	0.97499	0.0:1.0:0.0:0.0	.	73	P11182	ODB2_HUMAN	A	73	ENSP00000359151:G73A;ENSP00000359150:G73A	ENSP00000359150:G73A	G	-	2	0	DBT	100473613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.982000	0.76173	2.801000	0.96364	0.650000	0.86243	GGA	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030101.2		-	ENST00000370132.4	Missense_Mutation	SNP	1 : 100701025 - 100701025 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	501	91
DCAF4L2	138009	broad.mit.edu	37	8	88885210	88885210	+	Silent	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:88885210C>A	ENST00000319675.3	-	1	1086	c.990G>T	c.(988-990)gcG>gcT	p.A330A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	330										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGCCCACGGCCGCCACGACTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	82	80			NA	NA	8		NA											NA				88885210		2203	4300	6503	SO:0001819	synonymous_variant			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566	138009	138009		WD repeat domain containing	26657	protein-coding gene	gene with protein product			WD repeat domain 21C	WDR21C	NA	14702039	Standard	NM_152418	NM_152418	NA	Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.990G>T	8.37:g.88885210C>A		NA		37	CCDS6245.1																																																																																			DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375302.1		-	ENST00000319675.3	Silent	SNP	8 : 88885210 - 88885210 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	408	12
DGUOK	1716	broad.mit.edu	37	2	74154141	74154141	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:74154141G>A	ENST00000264093.4	+	1	189	c.104G>A	c.(103-105)gGg>gAg	p.G35E	DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Missense_Mutation_p.G35E|DGUOK_ENST00000356837.6_Missense_Mutation_p.G35E	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	35					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CTGCACGCGGGGCGCGGGCCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	38	37			NA	NA	2		NA											NA				74154141		2203	4299	6502	SO:0001583	missense			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	1716	1716	2.7.1.113		2858	protein-coding gene	gene with protein product		601465			NA		Standard		NM_080916	NA	Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.104G>A	2.37:g.74154141G>A	ENSP00000264093:p.Gly35Glu	NA	P78532|Q16759|Q4ZG09|Q96BC1	37	CCDS1931.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016699	0.54468	.	.	ENSG00000114956	ENST00000264093;ENST00000348222;ENST00000356837;ENST00000347161	D;D;D	0.99832	-5.27;-4.72;-7.02	4.19	1.14	0.20703	.	0.757041	0.13116	N	0.412588	D	0.98438	0.9480	L	0.38838	1.175	0.24671	N	0.99342	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	D	0.99942	1.1420	10	0.07175	T	0.84	-3.3064	5.3436	0.15996	0.4514:0.0:0.5486:0.0	.	35;35	E5KSL6;Q16854	.;DGUOK_HUMAN	E	35	ENSP00000264093:G35E;ENSP00000306964:G35E;ENSP00000349294:G35E	ENSP00000264093:G35E	G	+	2	0	DGUOK	74007649	0.784000	0.28713	0.720000	0.30636	0.681000	0.39784	0.699000	0.25586	0.222000	0.20900	0.655000	0.94253	GGG	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252050.1		+	ENST00000264093.4	Missense_Mutation	SNP	2 : 74154141 - 74154141 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	447	6
DMBT1	1755	broad.mit.edu	37	10	124336080	124336080	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:124336080C>T	ENST00000338354.3	+	7	555	c.449C>T	c.(448-450)tCa>tTa	p.S150L	DMBT1_ENST00000368909.3_Missense_Mutation_p.S150L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S150L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S150L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S150L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S150L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	150	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGCCATGTCAGCTCCAGGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(182;93 2026 18125 22222 38972)							NA				0													150	157	155			NA	NA	10		NA											NA				124336080		2116	4254	6370	SO:0001583	missense				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908	1755	1755			2926	protein-coding gene	gene with protein product		601969			NA	9288095, 17548659	Standard	NM_004406	NM_004406	NA	Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.449C>T	10.37:g.124336080C>T	ENSP00000342210:p.Ser150Leu	NA	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	37		.	.	.	.	.	.	.	.	.	.	c	15.27	2.782288	0.49891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.41	2.55	0.30701	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.54351	0.1853	M	0.64260	1.97	0.09310	N	1	P;B;D;B;P;D	0.63046	0.955;0.414;0.961;0.185;0.901;0.992	P;B;P;B;P;D	0.63877	0.684;0.39;0.571;0.052;0.562;0.919	T	0.37911	-0.9685	9	0.51188	T	0.08	.	7.1634	0.25677	0.0:0.7223:0.1365:0.1412	.	150;150;150;150;150;150	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	L	150	ENSP00000342210:S150L;ENSP00000343175:S150L;ENSP00000327747:S150L;ENSP00000357905:S150L;ENSP00000357951:S150L;ENSP00000357952:S150L;ENSP00000352593:S150L	ENSP00000331522:S150L	S	+	2	0	DMBT1	124326070	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.257000	0.08745	0.433000	0.26313	-0.766000	0.03442	TCA	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050792.2		+	ENST00000338354.3	Missense_Mutation	SNP	10 : 124336080 - 124336080 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1150	39
DMXL2	23312	broad.mit.edu	37	15	51772810	51772810	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:51772810G>A	ENST00000251076.5	-	24	6780	c.6493C>T	c.(6493-6495)Cat>Tat	p.H2165Y	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2165						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGGCCCCATGAAGGCTACAG	0.428		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	15		NA											NA				51772810		2196	4293	6489	SO:0001583	missense			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093	23312	23312		WD repeat domain containing	2938	protein-coding gene	gene with protein product	rabconnectin 3	612186			NA		Standard	NM_015263	NM_001174116	NA	Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6493C>T	15.37:g.51772810G>A	ENSP00000251076:p.His2165Tyr	NA	O94938	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553488	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.79749	-1.3;-1.3;-1.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	M	0.76727	2.345	0.80722	D	1	D;P;D;D	0.89917	1.0;0.936;0.994;0.998	D;P;D;D	0.87578	0.998;0.885;0.977;0.948	D	0.89821	0.3989	10	0.59425	D	0.04	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	2165;1529;2165;2165	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Y	2165;2165;1529	ENSP00000251076:H2165Y;ENSP00000441858:H2165Y;ENSP00000400855:H1529Y	ENSP00000251076:H2165Y	H	-	1	0	DMXL2	49560102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.729000	0.93468	0.655000	0.94253	CAT	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254671.2		-	ENST00000251076.5	Missense_Mutation	SNP	15 : 51772810 - 51772810 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	513	8
ECT2	1894	broad.mit.edu	37	3	172480552	172480552	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:172480552C>A	ENST00000417960.1	+	10	1342	c.865C>A	c.(865-867)Ctt>Att	p.L289I	ECT2_ENST00000232458.5_Missense_Mutation_p.L290I|ECT2_ENST00000392692.3_Missense_Mutation_p.L321I|ECT2_ENST00000427830.1_Missense_Mutation_p.L290I|ECT2_ENST00000441497.2_Missense_Mutation_p.L290I|ECT2_ENST00000540509.1_Missense_Mutation_p.L321I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	290	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AGTAAAAGATCTTCCCTTTGA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	99	98			NA	NA	3		NA											NA				172480552		2203	4299	6502	SO:0001583	missense			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346	1894	1894		Rho guanine nucleotide exchange factors	3155	protein-coding gene	gene with protein product		600586	epithelial cell transforming sequence 2 oncogene		NA	8464478, 10579713	Standard	NM_018098	NM_018098	NA	Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000417960.1:c.865C>A	3.37:g.172480552C>A	ENSP00000415876:p.Leu289Ile	NA	Q2M269|Q9NSV8|Q9NVW9	37		.	.	.	.	.	.	.	.	.	.	C	11.88	1.769443	0.31320	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.84	3.99	0.46301	BRCT (2);	0.123450	0.53938	D	0.000041	T	0.71600	0.3359	L	0.43701	1.375	0.52099	D	0.999947	B;B;B;B	0.16166	0.0;0.016;0.008;0.001	B;B;B;B	0.19666	0.005;0.026;0.017;0.012	T	0.63184	-0.6694	10	0.31617	T	0.26	-13.9281	8.7265	0.34471	0.3898:0.5435:0.0:0.0666	.	321;321;290;289	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	I	290;321;290;289;290;321	ENSP00000232458:L290I;ENSP00000376457:L321I;ENSP00000401910:L290I;ENSP00000415876:L289I;ENSP00000412259:L290I;ENSP00000443160:L321I	ENSP00000232458:L290I	L	+	1	0	ECT2	173963246	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.884000	0.48562	0.744000	0.32741	-0.282000	0.10007	CTT	ECT2-004	NOVEL	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000345995.3		+	ENST00000417960.1	Missense_Mutation	SNP	3 : 172480552 - 172480552 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	370	122
EFCAB1	79645	broad.mit.edu	37	8	49643125	49643125	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:49643125C>A	ENST00000262103.3	-	3	373	c.293G>T	c.(292-294)cGa>cTa	p.R98L	EFCAB1_ENST00000433756.1_Missense_Mutation_p.R46L|EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46L|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAAAGATCCTCGAAGAAACAG	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	103	107			NA	NA	8		NA											NA				49643125		2203	4300	6503	SO:0001583	missense				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239	79645	79645		EF-hand domain containing	25678	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024593	NM_024593	NA	Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.293G>T	8.37:g.49643125C>A	ENSP00000262103:p.Arg98Leu	NA	B4DSB4|E7EVN7	37	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489315	0.84962	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.68025	-0.3;-0.29;-0.3	4.44	4.44	0.53790	EF-hand-like domain (1);	0.060216	0.64402	D	0.000002	D	0.84638	0.5516	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.962	D	0.88273	0.2931	10	0.87932	D	0	.	14.9317	0.70919	0.0:1.0:0.0:0.0	.	46;98	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	L	46;98;98;46	ENSP00000400873:R46L;ENSP00000262103:R98L;ENSP00000430765:R46L	ENSP00000262103:R98L	R	-	2	0	EFCAB1	49805678	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.789000	0.75110	2.441000	0.82636	0.563000	0.77884	CGA	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377778.1		-	ENST00000262103.3	Missense_Mutation	SNP	8 : 49643125 - 49643125 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	184	23
EIF2AK2	5610	broad.mit.edu	37	2	37365423	37365423	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:37365423G>A	ENST00000233057.4	-	8	999	c.677C>T	c.(676-678)tCg>tTg	p.S226L	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S226L|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S226L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	226					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CATAAGCAACGAAGAACTGTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	122	122			NA	NA	2		NA											NA				37365423		2203	4300	6503	SO:0001583	missense			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332	5610	5610			9437	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 83	176871	protein kinase, interferon-inducible double stranded RNA dependent	PRKR	NA	1351683	Standard	NM_002759	NM_001135651	NA	Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.677C>T	2.37:g.37365423G>A	ENSP00000233057:p.Ser226Leu	NA	A8K3P0|D6W584|Q52M43|Q9UIR4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	G	9.576	1.122371	0.20877	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.76448	-0.99;-0.99;-1.02	2.93	-0.132	0.13489	.	2.710630	0.01408	N	0.013874	T	0.75102	0.3804	M	0.71581	2.175	0.09310	N	1	B;B;B;B	0.14805	0.011;0.011;0.003;0.003	B;B;B;B	0.09377	0.004;0.002;0.002;0.002	T	0.45101	-0.9284	10	0.26408	T	0.33	0.431	6.4738	0.22024	0.3144:0.0:0.6856:0.0	.	226;226;226;226	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	L	226	ENSP00000233057:S226L;ENSP00000378559:S226L;ENSP00000385014:S226L	ENSP00000233057:S226L	S	-	2	0	EIF2AK2	37218927	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.674000	0.05233	-0.052000	0.13311	0.557000	0.71058	TCG	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000218571.2		-	ENST00000233057.4	Missense_Mutation	SNP	2 : 37365423 - 37365423 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	367	26
EIF3D	8664	broad.mit.edu	37	22	36915498	36915498	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36915498C>T	ENST00000216190.8	-	8	1035	c.665G>A	c.(664-666)cGc>cAc	p.R222H	EIF3D_ENST00000405442.1_Missense_Mutation_p.R222H|EIF3D_ENST00000541106.1_Missense_Mutation_p.R173H	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	222						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTGGAAGATGCGCTTGATGCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													267	214	232			NA	NA	22		NA											NA				36915498		2203	4300	6503	SO:0001583	missense			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353	8664	8664			3278	protein-coding gene	gene with protein product		603915	eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa	EIF3S7	NA	9341143	Standard		NM_003753	NA	Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.665G>A	22.37:g.36915498C>T	ENSP00000216190:p.Arg222His	NA	B2R7D4|Q3MJD9|Q5M9Q6	37	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693888	0.96793	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.976;0.99	D	0.86823	0.2006	9	0.72032	D	0.01	0.1102	20.5792	0.99380	0.0:1.0:0.0:0.0	.	173;222	B4DVY1;O15371	.;EIF3D_HUMAN	H	222;207;173;222;222	.	ENSP00000216190:R222H	R	-	2	0	EIF3D	35245444	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.419000	0.80179	2.873000	0.98535	0.561000	0.74099	CGC	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319026.1		-	ENST00000216190.8	Missense_Mutation	SNP	22 : 36915498 - 36915498 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	629	172
ERCC6L2	375748	broad.mit.edu	37	9	98678635	98678635	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:98678635A>G	ENST00000288985.7	+	6	1415	c.1110A>G	c.(1108-1110)agA>agG	p.R370R	ERCC6L2_ENST00000437817.1_Silent_p.R181R|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementation group 6-like 2	370					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				NA						CCATGCAAAGACTTGCCAAAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	68			NA	NA	9		NA											NA				98678635		2203	4300	6503	SO:0001819	synonymous_variant			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150	375748	375748			26922	protein-coding gene	gene with protein product		615667	chromosome 9 open reading frame 102, excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	C9orf102	NA		Standard	NM_001010895	NM_001010895	NA	Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1110A>G	9.37:g.98678635A>G		NA	B2RTP8|Q49AM9|Q5T892|Q9NPM7	37	CCDS35072.1																																																																																			ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053247.2		+	ENST00000288985.7	Silent	SNP	9 : 98678635 - 98678635 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	290	9
FAM184A	79632	broad.mit.edu	37	6	119285893	119285893	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:119285893G>A	ENST00000338891.7	-	16	3520	c.3077C>T	c.(3076-3078)aCt>aTt	p.T1026I	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Missense_Mutation_p.T857I|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1026										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTGAAGTTAGTTTCTCGATT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	98	101			NA	NA	6		NA											NA				119285893		1828	4074	5902	SO:0001583	missense			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879	79632	79632			20991	protein-coding gene	gene with protein product			chromosome 6 open reading frame 60	C6orf60	NA	11230166	Standard	NM_024581	NM_024581	NA	Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3077C>T	6.37:g.119285893G>A	ENSP00000342604:p.Thr1026Ile	NA	B9DI75|Q5TBS9|Q96GY8|Q9H0J8|Q9H851	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087818	0.76642	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368472	T;T;T	0.52057	2.35;2.29;0.68	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.60520	-0.7247	10	0.41790	T	0.15	-12.1337	19.9925	0.97371	0.0:0.0:1.0:0.0	.	857;1026	F8W8D6;Q8NB25	.;F184A_HUMAN	I	1026;857;87	ENSP00000342604:T1026I;ENSP00000326608:T857I;ENSP00000357457:T87I	ENSP00000342604:T1026I	T	-	2	0	FAM184A	119327592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.655000	0.74392	2.721000	0.93114	0.655000	0.94253	ACT	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042009.3		-	ENST00000338891.7	Missense_Mutation	SNP	6 : 119285893 - 119285893 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	159	15
FAM86A	196483	broad.mit.edu	37	16	5141882	5141882	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5141882G>A	ENST00000427587.4	-	4	323	c.255C>T	c.(253-255)caC>caT	p.H85H	FAM86A_ENST00000458008.4_Intron|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	85										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AAGGCTCTGTGTGGACAGCCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	34	35			NA	NA	16		NA											NA				5141882		2197	4300	6497	SO:0001819	synonymous_variant			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894	196483	196483			32221	protein-coding gene	gene with protein product		615263			NA		Standard	NM_201400	NM_201400	NA	Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.255C>T	16.37:g.5141882G>A		NA	Q96S85	37	CCDS10529.1																																																																																			FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251713.1		-	ENST00000427587.4	Silent	SNP	16 : 5141882 - 5141882 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	419	109
FBXO43	286151	broad.mit.edu	37	8	101153416	101153416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:101153416G>A	ENST00000428847.2	-	2	1382	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	356					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTAGTTCTTGAAAAGAACCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	113	116			NA	NA	8		NA											NA				101153416		1860	4094	5954	SO:0001587	stop_gained			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509	286151	286151		F-boxes /  other	28521	protein-coding gene	gene with protein product		609110			NA		Standard	XM_209918	NR_036491	NA	Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1066C>T	8.37:g.101153416G>A	ENSP00000403293:p.Gln356*	NA		37	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	37	6.453024	0.97581	.	.	ENSG00000156509	ENST00000428847	.	.	.	5.57	4.68	0.58851	.	0.342235	0.34314	N	0.004079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-1.0291	16.6488	0.85183	0.0:0.13:0.87:0.0	.	.	.	.	X	356	.	ENSP00000403293:Q356X	Q	-	1	0	FBXO43	101222592	1.000000	0.71417	0.989000	0.46669	0.445000	0.32107	7.277000	0.78572	1.444000	0.47605	0.655000	0.94253	CAA	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380380.1		-	ENST00000428847.2	Nonsense_Mutation	SNP	8 : 101153416 - 101153416 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	680	174
FBXO45	200933	broad.mit.edu	37	3	196304578	196304578	+	Silent	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:196304578T>C	ENST00000311630.6	+	2	870	c.573T>C	c.(571-573)agT>agC	p.S191S	FBXO45_ENST00000440469.1_Silent_p.S12S	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	191	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGCTGGGCAGTGATGACCAGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	3		NA											NA				196304578		1969	4162	6131	SO:0001819	synonymous_variant			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013	200933	200933		F-boxes /  other	29148	protein-coding gene	gene with protein product		609112			NA		Standard		NM_001105573	NA	Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.573T>C	3.37:g.196304578T>C		NA	A6NF90|D3DXB5	37	CCDS46985.1																																																																																			FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340687.2		+	ENST00000311630.6	Silent	SNP	3 : 196304578 - 196304578 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	189	59
FBXW7	55294	broad.mit.edu	37	4	153253860	153253861	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:153253860_153253861delAT	ENST00000281708.4	-	6	2101_2102	c.872_873delAT	c.(871-873)tatfs	p.Y291fs	FBXW7_ENST00000603548.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.Y115fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.Y173fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.Y211fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	291	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGAAAGCACATAGAGTGCCAA	0.347		NA	Mis, N, D, F		colorectal, endometrial, T-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		4	4q31.3	55294	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)		E, L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23				NA	55294		F-boxes / WD-40 domains, WD repeat domain containing	16712	protein-coding gene	gene with protein product	archipelago homolog (Drosophila)	606278	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila), F-box and WD repeat domain containing 7		NA	10531037, 11425854	Standard		NM_018315	NA	Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.872_873delAT	4.37:g.153253860_153253861delAT	ENSP00000281708:p.Tyr291fs	NA	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	37	CCDS3777.1																																																																																			FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469956.1		-	ENST00000281708.4	Frame_Shift_Del	DEL	4 : 153253860 - 153253861 - PAAD-TCGA-LB-A7SX-Tumor-SM-54379	205	73
FFAR2	2867	broad.mit.edu	37	19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:35941517C>T	ENST00000599180.2	+	2	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	NA						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(40;139 809 9833 23358 48736)							NA				0													76	76	76			NA	NA	19		NA											NA				35941517		2203	4300	6503	SO:0001583	missense			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262	2867	2867		GPCR / Class A : Fatty acid receptors	4501	protein-coding gene	gene with protein product		603823	G protein-coupled receptor 43	GPR43	NA	9344866	Standard	NM_005306	NM_005306	NA	Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.901C>T	19.37:g.35941517C>T	ENSP00000473159:p.Arg301Cys	NA	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	37	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037193	0.35893	.	.	ENSG00000126262	ENST00000246549	T	0.69040	-0.37	4.85	-0.293	0.12835	.	0.444083	0.19863	N	0.104381	T	0.52041	0.1710	L	0.51422	1.61	0.09310	N	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.41805	-0.9488	10	0.48119	T	0.1	-3.8436	3.8897	0.09113	0.1696:0.4716:0.0:0.3588	.	301	O15552	FFAR2_HUMAN	C	301	ENSP00000246549:R301C	ENSP00000246549:R301C	R	+	1	0	FFAR2	40633357	0.000000	0.05858	0.002000	0.10522	0.282000	0.26991	0.054000	0.14205	-0.091000	0.12440	0.563000	0.77884	CGC	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466120.3		+	ENST00000599180.2	Missense_Mutation	SNP	19 : 35941517 - 35941517 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	758	244
FLT3LG	2323	broad.mit.edu	37	19	49983561	49983561	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:49983561C>G	ENST00000595510.1	+	6	543	c.242C>G	c.(241-243)tCa>tGa	p.S81*	CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000594009.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000600429.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000204637.2_Nonsense_Mutation_p.S81*|FLT3LG_ENST00000597551.1_Nonsense_Mutation_p.S163*|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_Nonsense_Mutation_p.S145*			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	163					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCAGACTCCTCAACCCTGCCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	45	46			NA	NA	19		NA											NA				49983561		2163	4189	6352	SO:0001587	stop_gained			U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554	NA	2323		Endogenous ligands	3766	protein-coding gene	gene with protein product		600007			NA	8145851, 7824267	Standard		NM_001204502	NA	Approved		uc010yau.2	P49771		ENST00000595510.1:c.242C>G	19.37:g.49983561C>G	ENSP00000471226:p.Ser81*	NA	A0AVC2|B9EGH2	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.446390	0.84101	.	.	ENSG00000090554	ENST00000204637	.	.	.	3.68	3.68	0.42216	.	0.299782	0.30901	N	0.008656	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.2738	11.0942	0.48134	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000204637:S163X	S	+	2	0	FLT3LG	54675373	0.062000	0.20869	0.847000	0.33407	0.441000	0.31987	3.315000	0.51951	2.042000	0.60477	0.561000	0.74099	TCA	FLT3LG-008	PUTATIVE	alternative_3_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000465304.2		+	ENST00000595510.1	Nonsense_Mutation	SNP	19 : 49983561 - 49983561 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	189	6
GDI2	2665	broad.mit.edu	37	10	5810230	5810230	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:5810230C>T	ENST00000380191.4	-	8	1227	c.937G>A	c.(937-939)Gat>Aat	p.D313N	GDI2_ENST00000380181.3_Missense_Mutation_p.D268N|GDI2_ENST00000380132.4_Missense_Mutation_p.D317N|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	313					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GAGTTGGCATCATTGGTGTTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	134	137			NA	NA	10		NA											NA				5810230		2203	4297	6500	SO:0001583	missense			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608	2665	2665			4227	protein-coding gene	gene with protein product	rab GDP-dissociation	600767			NA	9434952	Standard	NM_001494	NM_001494	NA	Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.937G>A	10.37:g.5810230C>T	ENSP00000369538:p.Asp313Asn	NA	O43928|Q9UQM6	37	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583007	0.46006	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.84	5.84	0.93424	.	0.042131	0.85682	D	0.000000	T	0.81079	0.4748	N	0.17922	0.545	0.80722	D	1	B;B;B	0.14805	0.001;0.011;0.0	B;B;B	0.24269	0.012;0.052;0.008	T	0.73675	-0.3908	10	0.22109	T	0.4	-34.1661	19.7341	0.96195	0.0:1.0:0.0:0.0	.	317;268;313	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	N	313;146;141;317;268	ENSP00000369538:D313N;ENSP00000387565:D141N;ENSP00000369475:D317N;ENSP00000369528:D268N	ENSP00000369475:D317N	D	-	1	0	GDI2	5850236	1.000000	0.71417	0.969000	0.41365	0.856000	0.48823	6.019000	0.70818	2.764000	0.94973	0.655000	0.94253	GAT	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046580.1		-	ENST00000380191.4	Missense_Mutation	SNP	10 : 5810230 - 5810230 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	549	111
GLI3	2737	broad.mit.edu	37	7	42018283	42018283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:42018283G>T	ENST00000395925.3	-	11	1646	c.1562C>A	c.(1561-1563)tCa>tAa	p.S521*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	521					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGCTCTCTTGAGCAGTCCAG	0.453		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	101	104			NA	NA	7		NA											NA				42018283		2203	4300	6503	SO:0001587	stop_gained	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571	2737	2737		Zinc fingers, C2H2-type	4319	protein-coding gene	gene with protein product	zinc finger protein GLI3, oncogene GLI3, DNA-binding protein	165240	Greig cephalopolysyndactyly syndrome, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3	GCPS, PHS	NA	2118997	Standard	NM_000168	NM_000168	NA	Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1562C>A	7.37:g.42018283G>T	ENSP00000379258:p.Ser521*	NA	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	41	8.584889	0.98872	.	.	ENSG00000106571	ENST00000395925	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	.	.	.	X	521	.	ENSP00000379258:S521X	S	-	2	0	GLI3	41984808	1.000000	0.71417	0.965000	0.40720	0.998000	0.95712	7.817000	0.86213	2.763000	0.94921	0.650000	0.86243	TCA	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250806.3		-	ENST00000395925.3	Nonsense_Mutation	SNP	7 : 42018283 - 42018283 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	467	163
GNB1	2782	broad.mit.edu	37	1	1722012	1722012	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:1722012C>T	ENST00000378609.4	-	9	852	c.521G>A	c.(520-522)gGc>gAc	p.G174D		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	174					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CGTCTGCTGGCCGGTCTCGAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	83	93			NA	NA	1		NA											NA				1722012		2203	4300	6503	SO:0001583	missense			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369	2782	2782		WD repeat domain containing	4396	protein-coding gene	gene with protein product		139380			NA		Standard	NM_002074	NM_002074	NA	Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.521G>A	1.37:g.1722012C>T	ENSP00000367872:p.Gly174Asp	NA	B1AJZ7|P04697|P04901	37	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.753994|4.753994	0.89843|0.89843	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000424622|ENST00000378609;ENST00000455156;ENST00000378606	.|T	.|0.01613	.|4.73	5.11|5.11	5.11|5.11	0.69529|0.69529	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.11024|0.11024	0.0269|0.0269	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|D	.|0.66351	.|0.943	T|T	0.00353|0.00353	-1.1795|-1.1795	5|10	.|0.87932	.|D	.|0	-24.5913|-24.5913	17.5387|17.5387	0.87841|0.87841	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|174	.|P62873	.|GBB1_HUMAN	T|D	32|174;74;174	.|ENSP00000367872:G174D	.|ENSP00000367869:G174D	A|G	-|-	1|2	0|0	GNB1|GNB1	1711872|1711872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.586000|7.586000	0.82596|0.82596	2.374000|2.374000	0.81015|0.81015	0.655000|0.655000	0.94253|0.94253	GCC|GGC	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000002762.3		-	ENST00000378609.4	Missense_Mutation	SNP	1 : 1722012 - 1722012 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	222	10
GPR156	165829	broad.mit.edu	37	3	119962536	119962536	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:119962536G>A	ENST00000464295.1	-	3	629	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	GPR156_ENST00000461057.1_Silent_p.L62L|GPR156_ENST00000315843.3_Silent_p.L62L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	62						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGTATCAGCAGAAGTCCACAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	115	119			NA	NA	3		NA											NA				119962536		2203	4300	6503	SO:0001819	synonymous_variant			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697	165829	165829		GPCR / Class C : Orphans	20844	protein-coding gene	gene with protein product		610464			NA	12591167	Standard	NM_153002	NM_153002	NA	Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.184C>T	3.37:g.119962536G>A		NA	Q14CM1|Q86SN6	37	CCDS2997.1																																																																																			GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355139.1		-	ENST00000464295.1	Silent	SNP	3 : 119962536 - 119962536 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	570	193
GRINA	2907	broad.mit.edu	37	8	145066090	145066090	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:145066090G>C	ENST00000313269.5	+	4	815	c.537G>C	c.(535-537)acG>acC	p.T179T	GRINA_ENST00000395068.4_Silent_p.T179T	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	179						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTGTCCACGGTGTCTGTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	218	220			NA	NA	8		NA											NA				145066090		2203	4300	6503	SO:0001819	synonymous_variant			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01				2907	2907			4589	protein-coding gene	gene with protein product	transmembrane BAX inhibitor motif containing 3	138251		NMDARA1	NA	1719427, 8406459	Standard	NM_001009184	XM_005250899	NA	Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.537G>C	8.37:g.145066090G>C		NA	B3KXM7|O43836|Q8IVW7	37	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000167	0.19121	.	.	ENSG00000178719	ENST00000534791;ENST00000527194	.	.	.	4.7	-4.37	0.03633	.	.	.	.	.	T	0.38506	0.1043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36817	-0.9732	4	.	.	.	-16.3463	2.2111	0.03948	0.1049:0.2036:0.2433:0.4482	.	.	.	.	R	103;35	.	.	G	+	1	0	GRINA	145138078	0.001000	0.12720	0.911000	0.35937	0.983000	0.72400	-1.702000	0.01901	-0.701000	0.05063	0.650000	0.86243	GGT	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384048.1		+	ENST00000313269.5	Silent	SNP	8 : 145066090 - 145066090 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1022	224
GRM1	2911	broad.mit.edu	37	6	146350993	146350993	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:146350993G>A	ENST00000392299.2	+	2	810	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	GRM1_ENST00000361719.2_Missense_Mutation_p.V114M|GRM1_ENST00000492807.2_Missense_Mutation_p.V114M|GRM1_ENST00000282753.1_Missense_Mutation_p.V114M|GRM1_ENST00000507907.1_Missense_Mutation_p.V114M|GRM1_ENST00000355289.4_Missense_Mutation_p.V114M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	114					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCACTCTTCCGTGGCTCTGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	47	48			NA	NA	6		NA											NA				146350993		2203	4300	6503	SO:0001583	missense			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822	2911	2911		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4593	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 85	604473			NA	9076744, 9376535	Standard	NM_000838	NM_001278064	NA	Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000392299.2:c.340G>A	6.37:g.146350993G>A	ENSP00000376119:p.Val114Met	NA	B9EG79|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	37	CCDS47497.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326441	0.81690	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.69	5.69	0.88448	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.997	T	0.71593	-0.4546	10	0.54805	T	0.06	.	19.8011	0.96507	0.0:0.0:1.0:0.0	.	114;114;109;114	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	M	114	ENSP00000354896:V114M;ENSP00000376119:V114M;ENSP00000424095:V114M;ENSP00000282753:V114M;ENSP00000347437:V114M;ENSP00000425599:V114M	ENSP00000282753:V114M	V	+	1	0	GRM1	146392686	1.000000	0.71417	0.978000	0.43139	0.966000	0.64601	9.869000	0.99810	2.679000	0.91253	0.561000	0.74099	GTG	GRM1-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042575.2		+	ENST00000392299.2	Missense_Mutation	SNP	6 : 146350993 - 146350993 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	183	22
H2AFY2	55506	broad.mit.edu	37	10	71859992	71859992	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71859992A>C	ENST00000373255.4	+	7	981	c.717A>C	c.(715-717)aaA>aaC	p.K239N	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	239	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTGGGGGAAAAGAGTTCTTGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	49	50			NA	NA	10		NA											NA				71859992		2203	4300	6503	SO:0001583	missense			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284	55506	55506		Histones / Replication-independent	14453	protein-coding gene	gene with protein product					NA	11331621, 11262398	Standard	NM_018649	NM_018649	NA	Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.717A>C	10.37:g.71859992A>C	ENSP00000362352:p.Lys239Asn	NA	Q5SQT2	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124489	0.77436	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.24908	1.83;1.83	5.8	-2.77	0.05877	Appr-1-p processing (2);	0.099386	0.64402	D	0.000002	T	0.32164	0.0820	M	0.73372	2.23	0.80722	D	1	P	0.45348	0.856	P	0.48166	0.569	T	0.36407	-0.9749	10	0.87932	D	0	.	11.8874	0.52610	0.612:0.0:0.388:0.0	.	239	Q9P0M6	H2AW_HUMAN	N	239;173;173	ENSP00000362352:K239N;ENSP00000404584:K173N	ENSP00000362352:K239N	K	+	3	2	H2AFY2	71529998	0.598000	0.26882	0.903000	0.35520	0.992000	0.81027	-0.087000	0.11215	-0.424000	0.07382	0.533000	0.62120	AAA	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048480.2		+	ENST00000373255.4	Missense_Mutation	SNP	10 : 71859992 - 71859992 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	186	54
HADH	3033	broad.mit.edu	37	4	108940775	108940775	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108940775G>A	ENST00000505878.1	+	5	784	c.511G>A	c.(511-513)Gct>Act	p.A171T	HADH_ENST00000603302.1_Missense_Mutation_p.A167T|HADH_ENST00000309522.3_Missense_Mutation_p.A167T|HADH_ENST00000403312.1_Missense_Mutation_p.A226T|HADH_ENST00000454409.2_Missense_Mutation_p.A171T			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	167					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	AGACCGATTCGCTGGCCTCCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	153	157			NA	NA	4		NA											NA				108940775		2203	4300	6503	SO:0001583	missense			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	3033	3033	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain, hydroxyacyl-Coenzyme A dehydrogenase	HADHSC	NA	975867, 16176262	Standard	NM_005327	NM_001184705	NA	Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000505878.1:c.511G>A	4.37:g.108940775G>A	ENSP00000425952:p.Ala171Thr	NA	O00324|O00397|O00753|Q4W5B4	37		.	.	.	.	.	.	.	.	.	.	G	26.4	4.731123	0.89390	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.76968	-1.06;-1.06;-1.06	5.37	4.53	0.55603	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.153383	0.56097	D	0.000023	D	0.84370	0.5457	M	0.84846	2.72	0.38132	D	0.938196	P;D;P	0.56035	0.941;0.974;0.953	B;P;P	0.50708	0.419;0.648;0.555	D	0.87171	0.2221	10	0.42905	T	0.14	-16.0779	15.4449	0.75223	0.0:0.0:0.8599:0.1401	.	226;171;167	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	T	167;167;171;171	ENSP00000312288:A167T;ENSP00000425952:A171T;ENSP00000395167:A171T	ENSP00000312288:A167T	A	+	1	0	HADH	109160224	1.000000	0.71417	0.073000	0.20177	0.941000	0.58515	6.776000	0.75023	1.244000	0.43870	0.655000	0.94253	GCT	HADH-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000363711.1		+	ENST00000505878.1	Missense_Mutation	SNP	4 : 108940775 - 108940775 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	847	307
HCAR1	27198	broad.mit.edu	37	12	123213884	123213884	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:123213884C>A	ENST00000436083.2	-	1	1506	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	HCAR1_ENST00000356987.2_Missense_Mutation_p.D335Y|HCAR1_ENST00000432564.1_Missense_Mutation_p.D335Y			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	335					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CATTGCCCATCAGACTGGCTT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	136	140			NA	NA	12		NA											NA				123213884		2203	4300	6503	SO:0001583	missense			AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917	27198	27198		GPCR / Class A : Hydroxy-carboxylic acid receptors	4532	protein-coding gene	gene with protein product	lactate receptor 1	606923	G protein-coupled receptor 104, G protein-coupled receptor 81	GPR104, GPR81	NA	11574155, 19047060, 18952058, 21454438	Standard		NM_032554	NA	Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.1003G>T	12.37:g.123213884C>A	ENSP00000409980:p.Asp335Tyr	NA	B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	37	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946361	0.34377	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.62105	0.05;0.05;0.05	5.56	2.72	0.32119	.	0.822850	0.10420	N	0.676826	T	0.46112	0.1376	L	0.36672	1.1	0.09310	N	1	P	0.37015	0.578	B	0.30782	0.12	T	0.37572	-0.9700	10	0.56958	D	0.05	-8.308	5.2508	0.15521	0.0:0.6518:0.1692:0.179	.	335	Q9BXC0	HCAR1_HUMAN	Y	335	ENSP00000349478:D335Y;ENSP00000389255:D335Y;ENSP00000409980:D335Y	ENSP00000349478:D335Y	D	-	1	0	HCAR1	121779837	0.000000	0.05858	0.001000	0.08648	0.139000	0.21198	-0.083000	0.11286	0.689000	0.31550	0.655000	0.94253	GAT	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401415.1		-	ENST00000436083.2	Missense_Mutation	SNP	12 : 123213884 - 123213884 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	499	25
HDAC8	55869	broad.mit.edu	37	X	71788701	71788701	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:71788701C>T	ENST00000439122.2	-	3	484	c.198G>A	c.(196-198)gaG>gaA	p.E66E	HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373573.3_Silent_p.E66E|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373556.3_Silent_p.E66E|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373560.2_Silent_p.E66E|HDAC8_ENST00000373561.4_Silent_p.E66E|HDAC8_ENST00000373554.1_Silent_p.E66E|HDAC8_ENST00000373571.1_Silent_p.E66E	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	66	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	AGGTGGCCATCTCCTCCATGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	73	81			NA	NA	X		NA											NA				71788701		2203	4300	6503	SO:0001819	synonymous_variant			AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099	55869	55869			13315	protein-coding gene	gene with protein product		300269	histone deacetylase-like 1, Wilson-Turner X-linked mental retardation syndrome	HDACL1, WTS, MRXS6	NA	10756090, 10922473, 22889856	Standard	NM_018486	NM_001166448	NA	Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000439122.2:c.198G>A	X.37:g.71788701C>T		NA	A6NET3|A8MQ62|Q86VC8|Q9NP76|Q9NYH4	37	CCDS55451.1																																																																																			HDAC8-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057194.1		-	ENST00000439122.2	Silent	SNP	X : 71788701 - 71788701 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	145	5
HDAC9	9734	broad.mit.edu	37	7	18788739	18788739	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:18788739C>A	ENST00000406451.4	+	14	2162	c.2012C>A	c.(2011-2013)aCt>aAt	p.T671N	HDAC9_ENST00000401921.1_Missense_Mutation_p.T630N|HDAC9_ENST00000441542.2_Missense_Mutation_p.T674N|HDAC9_ENST00000432645.2_Missense_Mutation_p.T671N	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	NA	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGCAAGAAACTGGGCTGCTA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	78	79			NA	NA	7		NA											NA				18788739		1911	4139	6050	SO:0001583	missense			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052	9734	9734			14065	protein-coding gene	gene with protein product		606543			NA	10523670, 10487760	Standard		NM_178425	NA	Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000406451.4:c.2012C>A	7.37:g.18788739C>A	ENSP00000384657:p.Thr671Asn	NA	A7E2F3|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	37	CCDS47554.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884382	0.51908	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.3	5.3	0.74995	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000010	T	0.70894	0.3276	M	0.65975	2.015	0.80722	D	1	B;P;P;P;P;P;P	0.43885	0.001;0.82;0.64;0.64;0.69;0.64;0.69	B;B;B;B;B;B;B	0.41666	0.01;0.328;0.248;0.248;0.363;0.248;0.279	T	0.74973	-0.3481	10	0.56958	D	0.05	-19.3258	15.5062	0.75743	0.0:0.8616:0.1384:0.0	.	671;583;630;674;671;671;649	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	N	671;630;671;674;583	ENSP00000384657:T671N;ENSP00000383912:T630N;ENSP00000410337:T671N;ENSP00000408617:T674N	ENSP00000339165:T583N	T	+	2	0	HDAC9	18755264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.797000	0.55514	2.756000	0.94617	0.563000	0.77884	ACT	HDAC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326405.2		+	ENST00000406451.4	Missense_Mutation	SNP	7 : 18788739 - 18788739 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	149	36
HIST1H2AL	8332	broad.mit.edu	37	6	27833264	27833264	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:27833264C>T	ENST00000357320.2	+	1	231	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CTGAGCGGGTCGGGGCCGGCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	54	52			NA	NA	6		NA											NA				27833264		2202	4299	6501	SO:0001819	synonymous_variant			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903	8332	8332		Histones / Replication-dependent	4730	protein-coding gene	gene with protein product		602793	H2A histone family, member I, histone 1, H2al	H2AFI	NA	9439656, 9031620, 12408966	Standard	NM_003511	NM_003511	NA	Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.132C>T	6.37:g.27833264C>T		NA	P02261|Q2M1R2|Q76PA6	37	CCDS4634.1																																																																																			HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040160.1		+	ENST00000357320.2	Silent	SNP	6 : 27833264 - 27833264 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	507	31
HTR5A-AS1	0	broad.mit.edu	37	7	154862970	154862970	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:154862970G>A	ENST00000395731.2	-	1	297	c.44C>T	c.(43-45)tCg>tTg	p.S15L	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.S15L|HTR5A_ENST00000287907.2_Missense_Mutation_p.D121N						NA								p.D121N(1)			NA						GATCGCGTGCGACGTGCTTTG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											64	49	54			NA	NA	7		NA											NA				154862970		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000395731.2:c.44C>T	7.37:g.154862970G>A	ENSP00000379080:p.Ser15Leu	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.834754|4.834754	0.91036|0.91036	.|.	.|.	ENSG00000157219|ENSG00000220575	ENST00000287907|ENST00000395731;ENST00000543018	T|.	0.37752|.	1.18|.	4.52|4.52	4.52|4.52	0.55395|0.55395	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85978|0.85978	0.5823|0.5823	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.77557|0.87578	0.99|0.998	D|D	0.89946|0.89946	0.4076|0.4076	10|8	0.87932|0.87932	D|D	0|0	.|.	17.4477|17.4477	0.87583|0.87583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	121|15	P47898|B7Z8E6	5HT5A_HUMAN|.	N|L	121|15	ENSP00000287907:D121N|.	ENSP00000287907:D121N|ENSP00000379080:S15L	D|S	+|-	1|2	0|0	HTR5A|AC093726.4	154493903|154493903	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.629000|0.629000	0.37895|0.37895	7.411000|7.411000	0.80078|0.80078	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	GAC|TCG	HTR5A-AS1-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322238.1		-	ENST00000395731.2	Missense_Mutation	SNP	7 : 154862970 - 154862970 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	319	20
IFIH1	64135	broad.mit.edu	37	2	163144827	163144827	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:163144827C>T	ENST00000263642.2	-	5	1308	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	305					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AGCTGGAGTTCTGGCTCCGGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	68	69			NA	NA	2		NA											NA				163144827		2203	4300	6503	SO:0001583	missense			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267	64135	64135			18873	protein-coding gene	gene with protein product	helicard	606951			NA		Standard	NM_022168	NM_022168	NA	Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.913G>A	2.37:g.163144827C>T	ENSP00000263642:p.Glu305Lys	NA	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663722	0.67700	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.53640	0.61	6.03	5.16	0.70880	DEAD-like helicase (1);	0.117044	0.56097	D	0.000030	T	0.45955	0.1368	L	0.38838	1.175	0.43054	D	0.994663	P	0.48162	0.906	P	0.48738	0.588	T	0.49293	-0.8955	10	0.72032	D	0.01	-17.0742	10.9061	0.47081	0.0:0.8028:0.1295:0.0677	.	305	Q9BYX4	IFIH1_HUMAN	K	305	ENSP00000263642:E305K	ENSP00000263642:E305K	E	-	1	0	IFIH1	162853073	1.000000	0.71417	0.971000	0.41717	0.967000	0.64934	3.203000	0.51075	1.562000	0.49601	0.557000	0.71058	GAA	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255078.2		-	ENST00000263642.2	Missense_Mutation	SNP	2 : 163144827 - 163144827 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	386	106
IGLL5	100423062	broad.mit.edu	37	22	23237723	23237723	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237723A>C	ENST00000532223.2	+	3	771	c.497A>C	c.(496-498)aAa>aCa	p.K166T	IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Missense_Mutation_p.K165T|IGLC1_ENST00000390321.2_RNA			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	NA	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAGACCACCAAACCCTCCAAA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	90	90			NA	NA	22		NA											NA				23237723		2202	4295	6497	SO:0001583	missense			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709	100423062	100423062		Immunoglobulin superfamily / C1-set domain containing	38476	protein-coding gene	gene with protein product					NA		Standard	NM_001178126	NM_001178126	NA	Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000532223.2:c.497A>C	22.37:g.23237723A>C	ENSP00000436353:p.Lys166Thr	NA		37		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.289688	0.00248	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00603	6.28;6.28	3.54	-2.51	0.06365	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.728791	0.12593	N	0.455429	T	0.00241	0.0007	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.15052	0.012	T	0.40098	-0.9581	9	0.02654	T	1	.	2.1258	0.03738	0.4304:0.2973:0.1611:0.1113	.	165	B9A064	IGLL5_HUMAN	T	166;165	ENSP00000436353:K166T;ENSP00000431254:K165T	ENSP00000431254:K165T	K	+	2	0	IGLL5	21567723	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.399000	0.07250	-1.086000	0.03084	-5.509000	0.00000	AAA	IGLL5-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000385698.2		+	ENST00000532223.2	Missense_Mutation	SNP	22 : 23237723 - 23237723 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	382	8
IGLL5	100423062	broad.mit.edu	37	22	23237736	23237736	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237736G>A	ENST00000532223.2	+	3	784	c.510G>A	c.(508-510)caG>caA	p.Q170Q	IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Silent_p.Q169Q|IGLC1_ENST00000390321.2_RNA			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	NA	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTCCAAACAGAGCAACAACA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	22		NA											NA				23237736		2202	4295	6497	SO:0001819	synonymous_variant			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709	100423062	100423062		Immunoglobulin superfamily / C1-set domain containing	38476	protein-coding gene	gene with protein product					NA		Standard	NM_001178126	NM_001178126	NA	Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000532223.2:c.510G>A	22.37:g.23237736G>A		NA		37																																																																																				IGLL5-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000385698.2		+	ENST00000532223.2	Silent	SNP	22 : 23237736 - 23237736 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	409	11
IL17C	27189	broad.mit.edu	37	16	88706381	88706381	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:88706381C>T	ENST00000244241.4	+	3	544	c.495C>T	c.(493-495)cgC>cgT	p.R165R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	165					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCTGCTCCCGCGACGGCTCGG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	35	33			NA	NA	16		NA											NA				88706381		1999	4138	6137	SO:0001819	synonymous_variant			AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391	27189	27189		Interleukins and interleukin receptors	5983	protein-coding gene	gene with protein product		604628			NA	10639155	Standard	NM_013278	NM_013278	NA	Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.495C>T	16.37:g.88706381C>T		NA	Q3MIG8|Q9HC75	37	CCDS42217.1																																																																																			IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000422575.1		+	ENST00000244241.4	Silent	SNP	16 : 88706381 - 88706381 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	379	12
IL9R	3581	broad.mit.edu	37	X	155239804	155239804	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:155239804C>G	ENST00000244174.5	+	9	1475	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S411R|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	432	Poly-Ser.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					gcaggagcagcagcagcagca	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	27	24			NA	NA	X		NA											NA				155239804		2201	4295	6496	SO:0001583	missense			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334	3581	3581		Pseudoautosomal regions / PAR2, Interleukins and interleukin receptors, CD molecules	6030	protein-coding gene	gene with protein product		300007			NA	1376929, 8666384	Standard	NM_002186	NM_002186	NA	Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1296C>G	X.37:g.155239804C>G	ENSP00000244174:p.Ser432Arg	NA	Q14634|Q8WWU1|Q96TF0	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	9.402	1.078258	0.20227	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10860	2.83;2.83	0.195	0.195	0.15151	.	3.852910	0.00870	N	0.002015	T	0.14356	0.0347	.	.	.	0.09310	N	1	P	0.42518	0.782	P	0.46110	0.504	T	0.20806	-1.0264	8	0.48119	T	0.1	-15.0951	.	.	.	.	432	Q01113	IL9R_HUMAN	R	432;411	ENSP00000244174:S432R;ENSP00000388918:S411R	ENSP00000244174:S432R	S	+	3	2	IL9R	154892998	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.363000	0.07593	0.283000	0.22279	0.287000	0.19450	AGC	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058981.1		+	ENST00000244174.5	Missense_Mutation	SNP	X : 155239804 - 155239804 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	79	4
INPP4A	3631	broad.mit.edu	37	2	99169316	99169316	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:99169316G>A	ENST00000409016.4	+	15	1643	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000074304.5_Missense_Mutation_p.A416T			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	NA					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGATCATCGCCCAGATCAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	77	78			NA	NA	2		NA											NA				99169316		2005	4167	6172	SO:0001583	missense			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933	3631	3631			6074	protein-coding gene	gene with protein product		600916	inositol polyphosphate-4-phosphatase, type I, 107kD	INPP4	NA	7608176, 9295334	Standard	NM_001566	NM_004027	NA	Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000409016.4:c.1246G>A	2.37:g.99169316G>A	ENSP00000386704:p.Ala416Thr	NA	O15326|Q13187|Q53TD8|Q8TC02	37	CCDS46370.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847369	0.91277	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.03	5.03	0.67393	.	0.054882	0.64402	D	0.000001	T	0.25644	0.0624	L	0.40543	1.245	0.54753	D	0.999988	D;D;D;D	0.58268	0.959;0.978;0.982;0.982	B;B;P;P	0.47864	0.357;0.378;0.559;0.559	T	0.00790	-1.1565	10	0.36615	T	0.2	-24.8771	17.5362	0.87832	0.0:0.0:1.0:0.0	.	416;416;416;411	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	T	416;411;416;416;416;416	ENSP00000386704:A416T;ENSP00000386777:A411T;ENSP00000074304:A416T;ENSP00000442149:A416T;ENSP00000387294:A416T;ENSP00000427722:A416T	ENSP00000074304:A416T	A	+	1	0	INPP4A	98535748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.608000	0.88229	0.655000	0.94253	GCC	INPP4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329566.2		+	ENST00000409016.4	Missense_Mutation	SNP	2 : 99169316 - 99169316 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	156	9
ITPRIPL2	162073	broad.mit.edu	37	16	19126379	19126379	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:19126379T>A	ENST00000381440.3	+	1	1126	c.596T>A	c.(595-597)cTg>cAg	p.L199Q	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	199						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGCCAGCGCTGGCCCCGGCC	0.701		NA									OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	13			NA	NA	16		NA											NA				19126379		2146	4212	6358	SO:0001583	missense				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730	162073	162073			27257	protein-coding gene	gene with protein product			inositol 1,4,5-triphosphate receptor interacting protein-like 2		NA		Standard	NM_001034841	NM_001034841	NA	Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.596T>A	16.37:g.19126379T>A	ENSP00000370849:p.Leu199Gln	730		37	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	T	8.250	0.808707	0.16467	.	.	ENSG00000205730	ENST00000381440	T	0.19250	2.16	4.91	3.81	0.43845	.	1.686950	0.05100	U	0.486938	T	0.25158	0.0611	N	0.19112	0.55	0.29438	N	0.859323	D	0.71674	0.998	P	0.61800	0.894	T	0.15292	-1.0442	10	0.11182	T	0.66	-8.1361	6.7379	0.23419	0.0:0.0837:0.1545:0.7618	.	199	Q3MIP1	IPIL2_HUMAN	Q	199	ENSP00000370849:L199Q	ENSP00000370849:L199Q	L	+	2	0	ITPRIPL2	19033880	0.524000	0.26282	0.167000	0.22817	0.046000	0.14306	1.512000	0.35812	1.829000	0.53265	0.533000	0.62120	CTG	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435827.3		+	ENST00000381440.3	Missense_Mutation	SNP	16 : 19126379 - 19126379 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	230	9
JAK1	3716	broad.mit.edu	37	1	65310517	65310517	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:65310517C>T	ENST00000342505.4	-	16	2419	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	724	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GATGCCCTCACGGGCCAGGAG	0.542		NA	Mis		ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													97	111	107			NA	NA	1		NA											NA				65310517		2091	4208	6299	SO:0001583	missense			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	3716	3716	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B	NA	1848670, 7698020	Standard	NM_002227	NM_002227	NA	Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2171G>A	1.37:g.65310517C>T	ENSP00000343204:p.Arg724His	NA	Q59GQ2|Q9UD26	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762736	0.89932	.	.	ENSG00000162434	ENST00000342505	D	0.82893	-1.66	5.0	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87509	0.6195	M	0.71036	2.16	0.51767	D	0.999936	D	0.89917	1.0	D	0.91635	0.999	D	0.89235	0.3580	9	0.72032	D	0.01	-5.0492	13.6915	0.62549	0.0:0.9256:0.0:0.0744	.	724	P23458	JAK1_HUMAN	H	724	ENSP00000343204:R724H	ENSP00000343204:R724H	R	-	2	0	JAK1	65083105	1.000000	0.71417	0.864000	0.33941	0.849000	0.48306	7.239000	0.78182	1.347000	0.45714	0.563000	0.77884	CGT	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025791.1		-	ENST00000342505.4	Missense_Mutation	SNP	1 : 65310517 - 65310517 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	349	15
JAKMIP1	152789	broad.mit.edu	37	4	6107248	6107248	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:6107248G>A	ENST00000409021.3	-	3	1025	c.576C>T	c.(574-576)gaC>gaT	p.D192D	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Silent_p.D192D|JAKMIP1_ENST00000409831.1_Silent_p.D192D|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	192	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGCACCTCGTCTTGGTGCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	22	23			NA	NA	4		NA											NA				6107248		2201	4298	6499	SO:0001819	synonymous_variant			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969	152789	152789			26460	protein-coding gene	gene with protein product		611195			NA	18941173	Standard	NM_144720	NM_144720	NA	Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.576C>T	4.37:g.6107248G>A		NA	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	37	CCDS47005.1																																																																																			JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329747.1		-	ENST00000409021.3	Silent	SNP	4 : 6107248 - 6107248 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	101	36
KIAA1429	25962	broad.mit.edu	37	8	95538657	95538657	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:95538657C>T	ENST00000297591.5	-	8	1890	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	KIAA1429_ENST00000437199.1_Silent_p.V605V|KIAA1429_ENST00000421249.2_Silent_p.V605V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	605					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGAAGCTTCCACCTCATTTT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	144	147			NA	NA	8		NA											NA				95538657		2203	4300	6503	SO:0001819	synonymous_variant			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944	25962	25962			24500	protein-coding gene	gene with protein product	functional spliceosome-associated protein 121				NA	10718198	Standard	NM_015496	NM_015496	NA	Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1815G>A	8.37:g.95538657C>T		NA	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	37	CCDS34923.1																																																																																			KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378720.2		-	ENST00000297591.5	Silent	SNP	8 : 95538657 - 95538657 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	793	41
KIF5B	3799	broad.mit.edu	37	10	32310006	32310006	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:32310006G>A	ENST00000302418.4	-	19	2605	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	716					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCAAACTACTGATCTGTTTTT	0.358		NA	T	RET, ALK	NSCLC									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													175	168	171			NA	NA	10		NA											NA				32310006		2202	4299	6501	SO:0001819	synonymous_variant			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759	3799	3799		Kinesins	6324	protein-coding gene	gene with protein product		602809		KNS1	NA	1607388	Standard	NM_004521	NM_004521	NA	Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2148C>T	10.37:g.32310006G>A		NA	A0AVB2|Q5VZ85	37	CCDS7171.1																																																																																			KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047467.1		-	ENST00000302418.4	Silent	SNP	10 : 32310006 - 32310006 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	513	18
KLHL1	57626	broad.mit.edu	37	13	70681816	70681816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:70681816G>A	ENST00000377844.4	-	1	775	c.16C>T	c.(16-18)Cga>Tga	p.R6*	ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	6					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGTCTTTTCGCCCAGAGCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	21	20			NA	NA	13		NA											NA				70681816		2201	4295	6496	SO:0001587	stop_gained			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361	57626	57626		Kelch-like, BTB/POZ domain containing	6352	protein-coding gene	gene with protein product	Kelch-like protein 1, Mayven-related protein 2	605332	kelch (Drosophila)-like 1, kelch-like 1 (Drosophila)		NA	10888605	Standard	NM_020866	NM_020866	NA	Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.16C>T	13.37:g.70681816G>A	ENSP00000367075:p.Arg6*	NA	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	44	11.251559	0.99537	.	.	ENSG00000150361	ENST00000377844	.	.	.	5.18	-3.56	0.04626	.	0.000000	0.36703	N	0.002455	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8523	0.52417	0.0:0.0873:0.1916:0.7211	.	.	.	.	X	6	.	ENSP00000367075:R6X	R	-	1	2	KLHL1	69579817	0.596000	0.26866	0.966000	0.40874	0.997000	0.91878	0.042000	0.13949	-0.483000	0.06772	0.655000	0.94253	CGA	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045231.3		-	ENST00000377844.4	Nonsense_Mutation	SNP	13 : 70681816 - 70681816 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	193	64
KMT2C	58508	broad.mit.edu	37	7	151860794	151860794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:151860794delG	ENST00000262189.6	-	43	10086	c.9868delC	c.(9868-9870)ctafs	p.L3290fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.L3290fs	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						CCTGGAATTAGGGGTGGCTGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	127	136			NA	NA	7		NA											NA				151860794		2203	4300	6503	SO:0001589	frameshift_variant			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9868delC	7.37:g.151860794delG	ENSP00000262189:p.Leu3290fs	NA		37	CCDS5931.1																																																																																			KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Frame_Shift_Del	DEL	7 : 151860794 - 151860794 - PAAD-TCGA-LB-A7SX-Tumor-SM-54379	445	90
LOXL1	4016	broad.mit.edu	37	15	74239478	74239478	+	Missense_Mutation	SNP	G	G	A	rs141057976		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:74239478G>A	ENST00000261921.7	+	4	1746	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	474	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GAAGGTGGCCGAGGGCCACAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	0,4396		0,0,2198	73	65	68		1420	4.8	1	15	dbSNP_134	68	1,8593	1.2+/-3.3	0,1,4296	no	missense	LOXL1	NM_005576.2	56	0,1,6494	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	474/575	74239478	1,12989	2198	4297	6495	SO:0001583	missense			L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038	4016	4016			6665	protein-coding gene	gene with protein product		153456			NA	7689553	Standard	NM_005576	NM_005576	NA	Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1420G>A	15.37:g.74239478G>A	ENSP00000261921:p.Glu474Lys	NA	Q6NUL3|Q96BW7	37	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372594	0.95923	0.0	1.16E-4	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.40225	1.04	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79940	-0.1591	10	0.87932	D	0	.	16.4684	0.84092	0.0:0.0:1.0:0.0	.	474	Q08397	LOXL1_HUMAN	K	474;336	ENSP00000261921:E474K	ENSP00000261921:E474K	E	+	1	0	LOXL1	72026531	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.569000	0.98170	2.222000	0.72286	0.462000	0.41574	GAG	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268995.2		+	ENST00000261921.7	Missense_Mutation	SNP	15 : 74239478 - 74239478 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	289	55
LRCH1	23143	broad.mit.edu	37	13	47266759	47266759	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:47266759G>A	ENST00000389797.3	+	8	1240	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	LRCH1_ENST00000389798.3_Missense_Mutation_p.R368H|LRCH1_ENST00000311191.6_Missense_Mutation_p.R368H	NM_001164211.1	NP_001157683	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	368										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCGTGCCATCGCCTTAGCCCC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	106	114			NA	NA	13		NA											NA				47266759		2203	4300	6503	SO:0001583	missense			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141	23143	23143			20309	protein-coding gene	gene with protein product		610368	calponin homology (CH) domain containing 1	CHDC1	NA	10231032	Standard	NM_015116	NM_015116	NA	Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389797.3:c.1103G>A	13.37:g.47266759G>A	ENSP00000374447:p.Arg368His	NA	Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	37	CCDS53865.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771346	0.31320	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.51574	0.7;0.75;0.76	5.93	0.948	0.19561	.	0.393039	0.29225	N	0.012771	T	0.32406	0.0828	L	0.41961	1.31	0.26342	N	0.977352	B;B;B;B	0.21905	0.037;0.002;0.062;0.006	B;B;B;B	0.17979	0.009;0.002;0.02;0.001	T	0.14727	-1.0462	10	0.33940	T	0.23	-16.3864	4.6171	0.12432	0.4322:0.0:0.4239:0.1439	.	368;368;368;368	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	H	368	ENSP00000308493:R368H;ENSP00000374448:R368H;ENSP00000374447:R368H	ENSP00000308493:R368H	R	+	2	0	LRCH1	46164760	0.001000	0.12720	0.894000	0.35097	0.754000	0.42855	-0.287000	0.08388	-0.140000	0.11394	-0.136000	0.14681	CGC	LRCH1-004	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354618.1		+	ENST00000389797.3	Missense_Mutation	SNP	13 : 47266759 - 47266759 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	363	86
LRFN3	79414	broad.mit.edu	37	19	36430810	36430810	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36430810C>T	ENST00000588831.1	+	3	1537	c.483C>T	c.(481-483)ctC>ctT	p.L161L	LRFN3_ENST00000246529.3_Silent_p.L161L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	161					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAGGACCTCGACCTCTCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	19		NA											NA				36430810		2202	4297	6499	SO:0001819	synonymous_variant			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243	79414	79414		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	28370	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 1	612809			NA	12975309, 16495444, 16828986	Standard	NM_024509	NM_024509	NA	Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.483C>T	19.37:g.36430810C>T		NA	Q6UY10	37	CCDS12483.1																																																																																			LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457403.2		+	ENST00000588831.1	Silent	SNP	19 : 36430810 - 36430810 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	617	8
LRRC16B	90668	broad.mit.edu	37	14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787								p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	prostate(2)|lung(1)											73	63	67			NA	NA	14		NA											NA				24530760		2203	4300	6503	SO:0001583	missense			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12			90668	90668			20272	protein-coding gene	gene with protein product		614716	chromosome 14 open reading frame 121	C14orf121	NA	19846667	Standard	NM_138360	NM_138360	NA	Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2359C>T	14.37:g.24530760C>T	ENSP00000340467:p.Arg787Trp	NA	Q8TEF7|Q96HS9	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955757	0.53293	.	.	ENSG00000186648	ENST00000342740	T	0.15718	2.4	5.27	3.36	0.38483	.	0.174329	0.40144	N	0.001165	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.03166	-1.1065	10	0.87932	D	0	-14.9968	10.8426	0.46724	0.3396:0.6604:0.0:0.0	.	787	Q8ND23	LR16B_HUMAN	W	787	ENSP00000340467:R787W	ENSP00000340467:R787W	R	+	1	2	LRRC16B	23600600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.748000	0.26305	1.430000	0.47334	-0.182000	0.12963	CGG	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416527.1		+	ENST00000342740.5	Missense_Mutation	SNP	14 : 24530760 - 24530760 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	170	6
MAGEB4	4115	broad.mit.edu	37	X	30260943	30260943	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:30260943G>A	ENST00000378982.2	+	1	887	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	231	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGGGATCTATGATGGAAAGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	72	74			NA	NA	X		NA											NA				30260943		2202	4300	6502	SO:0001583	missense				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289	4115	4115			6811	protein-coding gene	gene with protein product	melanoma-associated antigen B4, cancer/testis antigen family 3, member 6	300153			NA	9441743	Standard	NM_002367	NM_002367	NA	Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.691G>A	X.37:g.30260943G>A	ENSP00000368266:p.Asp231Asn	NA	B2R9G0|Q6FHH4|Q8IZ00	37	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209960	0.39003	.	.	ENSG00000120289	ENST00000378982	T	0.05025	3.51	3.31	1.44	0.22558	.	0.365804	0.22917	U	0.054080	T	0.22282	0.0537	M	0.88181	2.935	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05632	-1.0873	10	0.48119	T	0.1	.	3.927	0.09269	0.1458:0.2453:0.609:0.0	.	231	O15481	MAGB4_HUMAN	N	231	ENSP00000368266:D231N	ENSP00000368266:D231N	D	+	1	0	MAGEB4	30170864	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.003000	0.12901	0.252000	0.21531	-0.192000	0.12808	GAT	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056159.1		+	ENST00000378982.2	Missense_Mutation	SNP	X : 30260943 - 30260943 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	438	12
MCM3AP	8888	broad.mit.edu	37	21	47686068	47686068	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:47686068C>T	ENST00000397708.1	-	12	3056	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	MCM3AP_ENST00000291688.1_Silent_p.L934L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	934					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGACCGGTTCAGCTCCACAC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	163	159			NA	NA	21		NA											NA				47686068		2203	4300	6503	SO:0001819	synonymous_variant			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2802G>A	21.37:g.47686068C>T		NA	Q2M3C1|Q9UMT4	37	CCDS13734.1																																																																																			MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Silent	SNP	21 : 47686068 - 47686068 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1140	36
MED1	5469	broad.mit.edu	37	17	37571341	37571341	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:37571341G>A	ENST00000394287.3	-	16	1642	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	MED1_ENST00000300651.6_Silent_p.L479L			Q15648	MED1_HUMAN	mediator complex subunit 1	479	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L479L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCCTTTGTAGAGTTTACAGC	0.408		NA								HNSCC(31;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(21;279 768 2492 4877 24026)							NA				1	Substitution - coding silent(1)	lung(1)											210	215	213			NA	NA	17		NA											NA				37571341		2203	4300	6503	SO:0001819	synonymous_variant			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686	5469	5469			9234	protein-coding gene	gene with protein product		604311	PPAR binding protein	TRIP2, PPARGBP, PPARBP	NA	9325263, 10485914	Standard	NM_004774	NM_004774	NA	Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1437C>T	17.37:g.37571341G>A		NA	A2RRQ6|O43810|O75447|Q6P9H7|Q6PK58|Q9HD39	37																																																																																				MED1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256944.1		-	ENST00000394287.3	Silent	SNP	17 : 37571341 - 37571341 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1230	40
MEGF11	84465	broad.mit.edu	37	15	66210374	66210374	+	Translation_Start_Site	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:66210374G>A	ENST00000409699.2	-	16	2188	c.2016C>T	c.(2014-2016)aaC>aaT	p.N672N	MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000395614.1_De_novo_Start_OutOfFrame|MEGF11_ENST00000360698.4_Silent_p.N672N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	672	EGF-like 11.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAGGTCCCGTTGTTGGCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	69	77			NA	NA	15		NA											NA				66210374		2201	4299	6500	SO:0001819	synonymous_variant			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890	84465	84465			29635	protein-coding gene	gene with protein product		612454			NA	11347906	Standard	NM_032445	NM_032445	NA	Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2016C>T	15.37:g.66210374G>A		NA	Q17R86|Q6UXS5|Q8ND91|Q96KG6	37	CCDS10213.2																																																																																			MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329307.2		-	ENST00000409699.2	Silent	SNP	15 : 66210374 - 66210374 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	271	50
MNDA	4332	broad.mit.edu	37	1	158812091	158812091	+	Missense_Mutation	SNP	G	G	T	rs140390501		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:158812091G>T	ENST00000368141.4	+	2	409	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	50	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAAGATTACAGATTTGATGGA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	100	98			NA	NA	1		NA											NA				158812091		2203	4300	6503	SO:0001583	missense			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563	4332	4332			7183	protein-coding gene	gene with protein product		159553			NA	1644857, 7512843	Standard	NM_002432	NM_002432	NA	Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.148G>T	1.37:g.158812091G>T	ENSP00000357123:p.Asp50Tyr	NA		37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856515	0.32791	.	.	ENSG00000163563	ENST00000368141	T	0.55052	0.54	3.51	-0.707	0.11245	Pyrin (2);	.	.	.	.	T	0.50599	0.1625	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.35822	-0.9773	9	0.87932	D	0	-0.51	6.1692	0.20408	0.5109:0.0:0.4891:0.0	.	50	P41218	MNDA_HUMAN	Y	50	ENSP00000357123:D50Y	ENSP00000357123:D50Y	D	+	1	0	MNDA	157078715	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.547000	0.23299	-0.025000	0.13918	-0.259000	0.10710	GAT	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000059069.1		+	ENST00000368141.4	Missense_Mutation	SNP	1 : 158812091 - 158812091 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	404	15
MRPS30	10884	broad.mit.edu	37	5	44815301	44815301	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:44815301C>T	ENST00000507110.1	+	5	1355	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	439					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGTTGGAAAACTGAAAAAGCA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	38	37			NA	NA	5		NA											NA				44815301		2203	4297	6500	SO:0001819	synonymous_variant			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996	10884	10884		Mitochondrial ribosomal proteins / small subunits	8769	protein-coding gene	gene with protein product		611991		PDCD9	NA	10640817, 11279123	Standard	NM_016640	NM_016640	NA	Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.1317C>T	5.37:g.44815301C>T		NA	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	37	CCDS3951.1																																																																																			MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214033.2		+	ENST00000507110.1	Silent	SNP	5 : 44815301 - 44815301 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	277	9
MUC16	94025	broad.mit.edu	37	19	9064306	9064306	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:9064306G>A	ENST00000397910.4	-	3	23343	c.23140C>T	c.(23140-23142)Ccc>Tcc	p.P7714S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7716	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGGAAGGGGAGAGGGGGGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	96	96			NA	NA	19		NA											NA				9064306		2025	4178	6203	SO:0001583	missense			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23140C>T	19.37:g.9064306G>A	ENSP00000381008:p.Pro7714Ser	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.343	-0.134144	0.06711	.	.	ENSG00000181143	ENST00000397910	T	0.20598	2.06	2.11	-3.35	0.04928	.	.	.	.	.	T	0.09113	0.0225	N	0.14661	0.345	.	.	.	P	0.35456	0.502	B	0.27887	0.084	T	0.18903	-1.0322	8	0.87932	D	0	.	6.4736	0.22022	0.6167:0.0:0.3833:0.0	.	7714	B5ME49	.	S	7714	ENSP00000381008:P7714S	ENSP00000381008:P7714S	P	-	1	0	MUC16	8925306	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.693000	0.01917	-0.722000	0.04922	-1.051000	0.02340	CCC	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9064306 - 9064306 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	352	53
NCKAP5	344148	broad.mit.edu	37	2	133887563	133887563	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:133887563G>T	ENST00000409261.1	-	6	701	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q110K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q110K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q110K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	110							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGAACTGCTGCTGCAAGCTA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	91	91			NA	NA	2		NA											NA				133887563		2010	4181	6191	SO:0001583	missense			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771	344148	344148			29847	protein-coding gene	gene with protein product	Nck associated protein 5, peripheral clock protein	608789			NA	9344857	Standard	NM_207481	NM_207363	NA	Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.328C>A	2.37:g.133887563G>T	ENSP00000387128:p.Gln110Lys	NA	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	37	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909250|2.909250	0.52439|0.52439	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.44083|.	2.93;0.93;2.93;0.93|.	6.17|6.17	2.06|2.06	0.26882|0.26882	.|.	.|.	.|.	.|.	.|.	T|T	0.22513|0.22513	0.0543|0.0543	N|N	0.24115|0.24115	0.695|0.695	0.23120|0.23120	N|N	0.998262|0.998262	B;B;B;B|.	0.29988|.	0.017;0.082;0.264;0.242|.	B;B;B;B|.	0.31101|.	0.031;0.032;0.124;0.055|.	T|T	0.21793|0.21793	-1.0235|-1.0235	9|5	0.49607|.	T|.	0.09|.	.|.	4.4369|4.4369	0.11555|0.11555	0.0791:0.2901:0.4811:0.1497|0.0791:0.2901:0.4811:0.1497	.|.	110;85;110;110|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	K|R	110;110;110;110;110;85|105	ENSP00000387128:Q110K;ENSP00000386952:Q110K;ENSP00000380603:Q110K;ENSP00000385692:Q110K|.	ENSP00000380603:Q110K|.	Q|S	-|-	1|3	0|2	NCKAP5|NCKAP5	133604033|133604033	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	1.743000|1.743000	0.38258|0.38258	0.433000|0.433000	0.26313|0.26313	0.655000|0.655000	0.94253|0.94253	CAG|AGC	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331663.1		-	ENST00000409261.1	Missense_Mutation	SNP	2 : 133887563 - 133887563 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	92	24
NDC1	55706	broad.mit.edu	37	1	54269611	54269611	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:54269611G>A	ENST00000371429.3	-	10	1654	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	NDC1_ENST00000537333.1_Silent_p.L17L|NDC1_ENST00000540001.1_Silent_p.L352L|NDC1_ENST00000234725.8_Silent_p.L237L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin	NA											NA						CTGGTTGGCTGAGGCTGAAAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	184	183			NA	NA	1		NA											NA				54269611		2203	4300	6503	SO:0001819	synonymous_variant			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804	55706	55706			25525	protein-coding gene	gene with protein product	nuclear division cycle 1 homolog (S. cerevisiae)	610115	transmembrane protein 48	TMEM48	NA	16779818, 12958361	Standard	NM_018087	NR_033142	NA	Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1056C>T	1.37:g.54269611G>A		NA		37	CCDS583.1																																																																																			NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022101.1		-	ENST00000371429.3	Silent	SNP	1 : 54269611 - 54269611 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1249	348
NEGR1	257194	broad.mit.edu	37	1	72400859	72400859	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:72400859C>G	ENST00000357731.5	-	2	551	c.312G>C	c.(310-312)caG>caC	p.Q104H	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.Q102H	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	NA	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CATTCTGTATCTGGAGGCTGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	111	115			NA	NA	1		NA											NA				72400859		2203	4300	6503	SO:0001583	missense			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260	257194	257194		Immunoglobulin superfamily / I-set domain containing	17302	protein-coding gene	gene with protein product	a kindred of IgLON, neurotractin, IgLON family member 4	613173			NA	10075727	Standard	NM_173808	NM_173808	NA	Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.312G>C	1.37:g.72400859C>G	ENSP00000350364:p.Gln104His	NA	Q5VT21|Q6UY06|Q8NAQ3	37	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725868	0.69074	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.27557	1.66;1.66	5.71	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055508	0.85682	D	0.000000	T	0.10723	0.0262	L	0.35644	1.08	0.58432	D	0.999997	B;B	0.21452	0.017;0.056	B;B	0.23018	0.026;0.043	T	0.06552	-1.0820	10	0.09590	T	0.72	-5.4874	14.4709	0.67517	0.0:0.9295:0.0:0.0705	.	102;104	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	H	104;102	ENSP00000350364:Q104H;ENSP00000413294:Q102H	ENSP00000350364:Q104H	Q	-	3	2	NEGR1	72173447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.217000	0.51184	1.423000	0.47198	0.655000	0.94253	CAG	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026722.4		-	ENST00000357731.5	Missense_Mutation	SNP	1 : 72400859 - 72400859 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	333	11
NGDN	25983	broad.mit.edu	37	14	23945486	23945486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:23945486C>T	ENST00000397154.3	+	8	596	c.583C>T	c.(583-585)Cga>Tga	p.R195*	NGDN_ENST00000408901.3_Nonsense_Mutation_p.R195*|NGDN_ENST00000556580.1_5'UTR			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	195					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCGTCTAGAACGAGCCAAGAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	14		NA											NA				23945486		2203	4300	6503	SO:0001587	stop_gained			AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460	25983	25983			20271	protein-coding gene	gene with protein product		610777	chromosome 14 open reading frame 120	C14orf120	NA	16705177	Standard	NM_001042635	NM_001042635	NA	Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000397154.3:c.583C>T	14.37:g.23945486C>T	ENSP00000380340:p.Arg195*	NA	A8K760|Q9Y400	37	CCDS32051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.410545|5.410545	0.96072|0.96072	.|.	.|.	ENSG00000129460|ENSG00000129460	ENST00000408901;ENST00000397154|ENST00000556483	.|.	.|.	.|.	5.89|5.89	4.98|4.98	0.66077|0.66077	.|.	0.211551|.	0.40728|.	N|.	0.001026|.	.|T	.|0.70762	.|0.3261	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70103	.|-0.4964	.|4	0.02654|.	T|.	1|.	-19.2174|-19.2174	14.907|14.907	0.70727|0.70727	0.149:0.851:0.0:0.0|0.149:0.851:0.0:0.0	.|.	.|.	.|.	.|.	X|M	195|142	.|.	ENSP00000380340:R195X|.	R|T	+|+	1|2	2|0	NGDN|NGDN	23015326|23015326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	3.550000|3.550000	0.53691|0.53691	1.440000|1.440000	0.47531|0.47531	0.563000|0.563000	0.77884|0.77884	CGA|ACG	NGDN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414057.1		+	ENST00000397154.3	Nonsense_Mutation	SNP	14 : 23945486 - 23945486 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	256	18
NHLRC2	374354	broad.mit.edu	37	10	115663395	115663395	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:115663395G>A	ENST00000369301.3	+	9	1816	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	535					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AATGAACCAGGAGGCTTGTGT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	177	172			NA	NA	10		NA											NA				115663395		2203	4297	6500	SO:0001583	missense			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865	374354	374354			24731	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_198514	NM_198514	NA	Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1604G>A	10.37:g.115663395G>A	ENSP00000358307:p.Gly535Glu	NA	Q8N1H1|Q8N5A6	37	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572991	0.86542	.	.	ENSG00000196865	ENST00000369301	T	0.71222	-0.55	5.76	5.76	0.90799	Six-bladed beta-propeller, TolB-like (1);	0.056460	0.64402	D	0.000001	T	0.78966	0.4367	L	0.41415	1.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.74794	-0.3544	10	0.32370	T	0.25	-17.4608	18.5117	0.90918	0.0:0.0:1.0:0.0	.	535	Q8NBF2	NHLC2_HUMAN	E	535	ENSP00000358307:G535E	ENSP00000358307:G535E	G	+	2	0	NHLRC2	115653385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.471000	0.80985	2.871000	0.98454	0.655000	0.94253	GGA	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050446.1		+	ENST00000369301.3	Missense_Mutation	SNP	10 : 115663395 - 115663395 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1155	16
NID2	22795	broad.mit.edu	37	14	52507535	52507535	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:52507535G>A	ENST00000216286.5	-	8	1859	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	NID2_ENST00000541773.1_Silent_p.F567F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	620	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTCCCGGGTAGAATGTAACTT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	141	149			NA	NA	14		NA											NA				52507535		2203	4300	6503	SO:0001819	synonymous_variant			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303	22795	22795			13389	protein-coding gene	gene with protein product		605399			NA	9733643	Standard		NM_007361	NA	Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1860C>T	14.37:g.52507535G>A		NA	A8K6I7|B4DU19|O43710	37	CCDS9706.1																																																																																			NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276888.1		-	ENST00000216286.5	Silent	SNP	14 : 52507535 - 52507535 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	453	154
NLRP5	126206	broad.mit.edu	37	19	56538857	56538857	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:56538857G>A	ENST00000390649.3	+	7	1258	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	420	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCAAGTCAGAGGTCGTGTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	50	49			NA	NA	19		NA											NA				56538857		2085	4205	6290	SO:0001583	missense			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487	126206	126206		Nucleotide-binding domain and leucine rich repeat containing	21269	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5	609658	NACHT, leucine rich repeat and PYD containing 5	NALP5	NA	12563287, 11925379	Standard	NM_153447	NM_153447	NA	Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1258G>A	19.37:g.56538857G>A	ENSP00000375063:p.Glu420Lys	NA	A8MTY4|Q86W29	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	8.718	0.913767	0.17907	.	.	ENSG00000171487	ENST00000390649	T	0.78003	-1.14	3.35	-6.7	0.01766	.	2.074330	0.02664	N	0.107849	T	0.55847	0.1946	N	0.04508	-0.205	0.09310	N	1	B	0.24092	0.097	B	0.33568	0.166	T	0.54596	-0.8270	10	0.48119	T	0.1	.	2.0967	0.03669	0.2778:0.3996:0.1358:0.1869	.	420	P59047	NALP5_HUMAN	K	420	ENSP00000375063:E420K	ENSP00000375063:E420K	E	+	1	0	NLRP5	61230669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.837000	0.01689	-3.908000	0.00092	-0.967000	0.02615	GAG	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313735.1		+	ENST00000390649.3	Missense_Mutation	SNP	19 : 56538857 - 56538857 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	145	6
NXT2	55916	broad.mit.edu	37	X	108780167	108780167	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:108780167C>T	ENST00000218004.1	+	2	199	c.97C>T	c.(97-99)Cct>Tct	p.P33S	NXT2_ENST00000372106.1_5'UTR|NXT2_ENST00000372107.1_5'UTR	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	0	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATTCCGCAGCCCTGCGGACCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	54	60			NA	NA	X		NA											NA				108780167		2203	4300	6503	SO:0001630	splice_region_variant			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888	55916	55916			18151	protein-coding gene	gene with protein product		300320			NA	11073998	Standard	NM_018698	NM_018698	NA	Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000218004.1:c.96-1C>T	X.37:g.108780167C>T		NA	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	37	CCDS14546.1	.	.	.	.	.	.	.	.	.	.	C	5.125	0.208764	0.09757	.	.	ENSG00000101888	ENST00000218004	.	.	.	4.69	-1.18	0.09617	.	3.984890	0.00589	N	0.000344	T	0.14141	0.0342	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.12967	-1.0527	8	0.06365	T	0.9	.	2.1255	0.03737	0.1267:0.4115:0.1228:0.339	.	33	Q9NPJ8-3	.	S	33	.	ENSP00000218004:P33S	P	+	1	0	NXT2	108666823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.403000	0.02497	-0.751000	0.04734	-0.905000	0.02835	CCT	NXT2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057885.1	Missense_Mutation	+	ENST00000218004.1	Splice_Site	SNP	X : 108780167 - 108780167 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	144	20
OR13C2	392376	broad.mit.edu	37	9	107367328	107367328	+	Missense_Mutation	SNP	T	T	C	rs74954118		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:107367328T>C	ENST00000542196.1	-	1	623	c.581A>G	c.(580-582)gAc>gGc	p.D194G		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAACTCATTGTCTGAGATGTC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	152	154			NA	NA	9		NA											NA				107367328		2201	4300	6501	SO:0001583	missense				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119	392376	392376		GPCR / Class A : Olfactory receptors	14701	protein-coding gene	gene with protein product					NA		Standard	NM_001004481	NM_001004481	NA	Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.581A>G	9.37:g.107367328T>C	ENSP00000438815:p.Asp194Gly	NA	B9EGV8|Q6IF54	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	T	5.601	0.295593	0.10622	.	.	ENSG00000257019	ENST00000542196	T	0.00076	8.76	3.52	-3.12	0.05282	GPCR, rhodopsin-like superfamily (1);	0.807899	0.10032	N	0.724612	T	0.00073	0.0002	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01337	-1.1381	10	0.26408	T	0.33	.	3.4954	0.07653	0.4312:0.2306:0.0:0.3382	.	194	Q8NGS9	O13C2_HUMAN	G	194	ENSP00000438815:D194G	ENSP00000438815:D194G	D	-	2	0	OR13C2	106407149	0.000000	0.05858	0.006000	0.13384	0.702000	0.40608	-0.856000	0.04290	-0.430000	0.07318	-0.415000	0.06103	GAC	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053489.2		-	ENST00000542196.1	Missense_Mutation	SNP	9 : 107367328 - 107367328 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	568	18
OR4Q3	441669	broad.mit.edu	37	14	20215850	20215850	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:20215850G>A	ENST00000331723.1	+	1	264	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTCCTACAGCAGGGCAAGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	84	84			NA	NA	14		NA											NA				20215850		2203	4300	6503	SO:0001819	synonymous_variant			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652	441669	441669		GPCR / Class A : Olfactory receptors	15426	protein-coding gene	gene with protein product				OR4Q4	NA		Standard		NM_172194	NA	Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.264G>A	14.37:g.20215850G>A		NA	Q6IEX4	37	CCDS32020.1																																																																																			OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409818.2		+	ENST00000331723.1	Silent	SNP	14 : 20215850 - 20215850 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	766	172
OR51B2	79345	broad.mit.edu	37	11	5344684	5344684	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5344684G>A	ENST00000328813.2	-	1	898	c.844C>T	c.(844-846)Cct>Tct	p.P282S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTAAAGGAGGAAAGAGGAAG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	107	110			NA	NA	11		NA											NA				5344684		2201	4297	6498	SO:0001583	missense			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881	79345	79345		GPCR / Class A : Olfactory receptors	14703	protein-coding gene	gene with protein product				OR51B1P	NA		Standard	NM_033180	NM_033180	NA	Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.844C>T	11.37:g.5344684G>A	ENSP00000327540:p.Pro282Ser	NA	Q96RD4	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185866	0.78789	.	.	ENSG00000184881	ENST00000328813	T	0.35048	1.33	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001743	T	0.66636	0.2809	M	0.90252	3.1	0.45118	D	0.998133	D	0.89917	1.0	D	0.79784	0.993	T	0.75720	-0.3219	10	0.87932	D	0	.	15.8595	0.79012	0.0:0.0:1.0:0.0	.	282	Q9Y5P1	O51B2_HUMAN	S	282	ENSP00000327540:P282S	ENSP00000327540:P282S	P	-	1	0	OR51B2	5301260	1.000000	0.71417	0.897000	0.35233	0.988000	0.76386	5.480000	0.66820	2.306000	0.77630	0.638000	0.83543	CCT	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142983.1		-	ENST00000328813.2	Missense_Mutation	SNP	11 : 5344684 - 5344684 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	396	52
OR52N5	390075	broad.mit.edu	37	11	5799446	5799446	+	Missense_Mutation	SNP	C	C	T	rs144845456		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5799446C>T	ENST00000317093.2	-	1	451	c.419G>A	c.(418-420)cGt>cAt	p.R140H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGTAGCATAACGCAAAGGGTA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4256		0,0,2128	137	110	119		419	0.6	0	11	dbSNP_134	119	1,8179		0,1,4089	no	missense	OR52N5	NM_001001922.2	29	0,1,6217	TT,TC,CC	NA	0.0122,0.0,0.0080	possibly-damaging	140/325	5799446	1,12435	2128	4090	6218	SO:0001583	missense			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009	390075	390075		GPCR / Class A : Olfactory receptors	15231	protein-coding gene	gene with protein product					NA		Standard	NM_001001922	NM_001001922	NA	Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.419G>A	11.37:g.5799446C>T	ENSP00000322866:p.Arg140His	NA	B9EH12|Q6IFG2	37	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872434	0.17322	0.0	1.22E-4	ENSG00000181009	ENST00000317093	T	0.00669	5.9	3.7	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27294	U	0.020040	T	0.00608	0.0020	N	0.21508	0.67	0.23966	N	0.996326	B	0.16166	0.016	B	0.10450	0.005	T	0.47971	-0.9075	10	0.34782	T	0.22	.	5.9492	0.19235	0.0:0.6557:0.1568:0.1875	.	140	Q8NH56	O52N5_HUMAN	H	140	ENSP00000322866:R140H	ENSP00000322866:R140H	R	-	2	0	OR52N5	5756022	0.000000	0.05858	0.025000	0.17156	0.722000	0.41435	-0.692000	0.05127	0.025000	0.15241	0.494000	0.49563	CGT	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401141.1		-	ENST00000317093.2	Missense_Mutation	SNP	11 : 5799446 - 5799446 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	129	35
OR6X1	390260	broad.mit.edu	37	11	123625215	123625215	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:123625215G>A	ENST00000327930.2	-	1	38	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGATTACTGTGCCATTTCTCA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	82	85			NA	NA	11		NA											NA				123625215		2196	4274	6470	SO:0001819	synonymous_variant			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931	390260	390260		GPCR / Class A : Olfactory receptors	14737	protein-coding gene	gene with protein product					NA		Standard	NM_001005188	NM_001005188	NA	Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.12C>T	11.37:g.123625215G>A		NA	B9EGW9|Q6IFA0	37	CCDS31695.1																																																																																			OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387436.1		-	ENST00000327930.2	Silent	SNP	11 : 123625215 - 123625215 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	705	149
OR8B12	219858	broad.mit.edu	37	11	124413456	124413456	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:124413456C>T	ENST00000306842.2	-	1	119	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CGTGTAGAAACCCAGAAACAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	62	61			NA	NA	11		NA											NA				124413456		2201	4299	6500	SO:0001583	missense				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953	219858	219858		GPCR / Class A : Olfactory receptors	15307	protein-coding gene	gene with protein product					NA		Standard		NM_001005195	NA	Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.95G>A	11.37:g.124413456C>T	ENSP00000307159:p.Gly32Asp	NA	B2RNF6|Q6IEW8|Q96RC7	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932336	0.18131	.	.	ENSG00000170953	ENST00000306842	T	0.00441	7.41	3.89	1.92	0.25849	.	0.739643	0.12351	N	0.476555	T	0.00412	0.0013	M	0.64676	1.99	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34104	-0.9842	10	0.35671	T	0.21	.	9.0627	0.36444	0.2929:0.5648:0.1422:0.0	.	32	Q8NGG6	OR8BC_HUMAN	D	32	ENSP00000307159:G32D	ENSP00000307159:G32D	G	-	2	0	OR8B12	123918666	0.000000	0.05858	0.075000	0.20258	0.874000	0.50279	0.248000	0.18198	0.550000	0.28991	0.650000	0.86243	GGT	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387061.1		-	ENST00000306842.2	Missense_Mutation	SNP	11 : 124413456 - 124413456 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	499	16
OTUD4	54726	broad.mit.edu	37	4	146073752	146073752	+	Silent	SNP	T	T	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146073752T>A	ENST00000454497.2	-	11	851	c.714A>T	c.(712-714)gcA>gcT	p.A238A	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.A303A	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	302							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTTGAACATCTGCATTCAAAA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	4		NA											NA				146073752		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164	54726	54726		OTU domain containing	24949	protein-coding gene	gene with protein product		611744	OTU domain containing 4		NA	1475186, 12727813, 19996094	Standard	NM_017493	NM_001102653	NA	Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000454497.2:c.714A>T	4.37:g.146073752T>A		NA	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	37	CCDS47139.1																																																																																			OTUD4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365114.1		-	ENST00000454497.2	Silent	SNP	4 : 146073752 - 146073752 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	281	58
OTUD7B	56957	broad.mit.edu	37	1	149916371	149916371	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:149916371G>A	ENST00000369135.4	-	12	2211	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	NA					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTTCTGCCAGGAATCTCTCCT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	126	126			NA	NA	1		NA											NA				149916371		1990	4180	6170	SO:0001819	synonymous_variant			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522	56957	56957		OTU domain containing	16683	protein-coding gene	gene with protein product		611748	zinc finger, A20 domain containing 1, OTU domain containing 7B	ZA20D1	NA	11463333, 23827681	Standard	NM_020205	NM_020205	NA	Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1917C>T	1.37:g.149916371G>A		NA	D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	37	CCDS41389.1																																																																																			OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034146.3		-	ENST00000369135.4	Silent	SNP	1 : 149916371 - 149916371 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	889	175
PALD1	27143	broad.mit.edu	37	10	72291202	72291202	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:72291202C>T	ENST00000263563.6	+	5	893	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1	NA								p.R209W(1)			NA						GCTGGCCATCCGGAAAGAGGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											49	46	47			NA	NA	10		NA											NA				72291202		2203	4300	6503	SO:0001583	missense			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719	27143	27143			23530	protein-coding gene	gene with protein product		614656	paladin, KIAA1274	PALD, KIAA1274	NA		Standard	NM_014431	NM_014431	NA	Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.625C>T	10.37:g.72291202C>T	ENSP00000263563:p.Arg209Trp	NA		37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319113	0.81469	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.27720	1.65	5.08	5.08	0.68730	.	0.105715	0.64402	D	0.000006	T	0.59797	0.2220	M	0.80183	2.485	0.58432	D	0.999992	D	0.89917	1.0	D	0.74674	0.984	T	0.64516	-0.6389	10	0.87932	D	0	-27.6121	18.9672	0.92701	0.0:1.0:0.0:0.0	.	209	Q9ULE6	PALD_HUMAN	W	209	ENSP00000263563:R209W	ENSP00000263563:R209W	R	+	1	2	KIAA1274	71961208	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.832000	0.55783	2.736000	0.93811	0.655000	0.94253	CGG	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048515.2		+	ENST00000263563.6	Missense_Mutation	SNP	10 : 72291202 - 72291202 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	242	6
PAPSS1	9061	broad.mit.edu	37	4	108641321	108641321	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108641321C>T	ENST00000265174.4	-	1	287	c.15G>A	c.(13-15)ggG>ggA	p.G5G	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	5					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGCACAGGCTCCCGGGGATCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	58	60			NA	NA	4		NA											NA				108641321		2203	4300	6503	SO:0001819	synonymous_variant			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	9061	9061	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262			NA	9576487, 9771708	Standard		NM_005443	NA	Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.15G>A	4.37:g.108641321C>T		NA	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	37	CCDS3676.1																																																																																			PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253946.2		-	ENST00000265174.4	Silent	SNP	4 : 108641321 - 108641321 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	533	131
PARD3B	117583	broad.mit.edu	37	2	206166502	206166502	+	Splice_Site	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:206166502G>A	ENST00000462231.1	+	19	2839		c.e19-1		PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000349953.3_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	NA					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTGTACTCAGAAAAAAGCGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117	117583	117583			14446	protein-coding gene	gene with protein product			amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19, par-3 partitioning defective 3 homolog B (C. elegans)	ALS2CR19	NA	11586298, 12459187	Standard	NM_057177	NM_057177	NA	Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000462231.1:c.2680-1G>A	2.37:g.206166502G>A		NA	Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	37																																																																																				PARD3B-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000335996.2	Intron	+	ENST00000462231.1	Splice_Site	SNP	2 : 206166502 - 206166502 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	287	78
PBRM1	55193	broad.mit.edu	37	3	52610715	52610715	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:52610715C>T	ENST00000409114.3	-	23	3581		c.e23-1		SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1	NA					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.?(6)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTTCAATTCTTGGGGAGGA	0.343		NA	Mis, N, F, S, D, O		clear cell renal carcinoma, breast									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		3	3p21	55193	polybromo 1		E	6	Unknown(6)	kidney(6)											52	51	52			NA	NA	3		NA											NA				52610715		2199	4300	6499	SO:0001630	splice_region_variant			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939	55193	55193			30064	protein-coding gene	gene with protein product		606083			NA	11078522, 11483580	Standard	NM_018165	NM_018313	NA	Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000409114.3:c.3579-1G>A	3.37:g.52610715C>T		NA	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	37		.	.	.	.	.	.	.	.	.	.	C	24.8	4.568252	0.86439	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3907	0.94581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52585755	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.720000	0.84759	2.664000	0.90586	0.591000	0.81541	.	PBRM1-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327230.1	Intron	-	ENST00000409114.3	Splice_Site	SNP	3 : 52610715 - 52610715 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	168	6
PCDH15	65217	broad.mit.edu	37	10	56128948	56128948	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:56128948C>A	ENST00000373965.2	-	5	800	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	PCDH15_ENST00000414778.1_Missense_Mutation_p.V141L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V136L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V136L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V114L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V114L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V136L|PCDH15_ENST00000395446.1_Missense_Mutation_p.V136L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395440.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V136L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	136	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCTCACCACTATTCGCACT	0.438		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	127	141			NA	NA	10		NA											NA				56128948		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.406G>T	10.37:g.56128948C>A	ENSP00000363076:p.Val136Leu	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	C	23.2	4.386402	0.82902	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.5;0.55;0.5;0.48;0.5;0.78;0.68;0.4;0.42;0.47;0.41;0.42;0.42;0.48;0.56	5.52	5.52	0.82312	Cadherin (1);Cadherin conserved site (1);	.	.	.	.	T	0.60792	0.2296	N	0.20986	0.625	0.45118	D	0.998131	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.992;0.999;0.998;0.974;0.992;0.998;0.992;0.996;0.994;0.989;0.999;0.999;1.0;1.0;0.999	D;D;D;P;D;D;D;D;D;P;D;D;D;D;D	0.87578	0.989;0.954;0.928;0.809;0.992;0.928;0.989;0.992;0.928;0.874;0.954;0.954;0.998;0.995;0.97	T	0.57207	-0.7851	9	0.27785	T	0.31	.	19.0325	0.92963	0.0:1.0:0.0:0.0	.	114;136;136;141;136;136;136;136;136;136;136;141;136;114;136	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	136;141;136;136;136;136;136;136;136;136;114;114;136;136;141;136;136	ENSP00000363076:V136L;ENSP00000410304:V141L;ENSP00000378826:V136L;ENSP00000378832:V136L;ENSP00000378833:V136L;ENSP00000378829:V136L;ENSP00000378827:V136L;ENSP00000378820:V136L;ENSP00000354950:V136L;ENSP00000378821:V114L;ENSP00000363068:V114L;ENSP00000322604:V136L;ENSP00000378818:V136L;ENSP00000412628:V136L;ENSP00000363066:V136L	ENSP00000322604:V136L	V	-	1	0	PCDH15	55798954	1.000000	0.71417	0.960000	0.40013	0.977000	0.68977	4.754000	0.62191	2.590000	0.87494	0.585000	0.79938	GTG	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 56128948 - 56128948 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	304	93
PCDH7	5099	broad.mit.edu	37	4	30724130	30724130	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:30724130G>C	ENST00000361762.2	+	1	2094	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	PCDH7_ENST00000543491.1_Missense_Mutation_p.E362D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	362	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTTGACGAGACGTCCGGCT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	4		NA											NA				30724130		2186	4267	6453	SO:0001583	missense			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851	5099	5099		Cadherins / Protocadherins : Non-clustered	8659	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 120	602988	BH-protocadherin (brain-heart)		NA	9615233	Standard	NM_032457, NM_002589	NM_002589	NA	Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1086G>C	4.37:g.30724130G>C	ENSP00000355243:p.Glu362Asp	NA	O60246|O60247|Q4W5C4	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.56|11.56	1.676129|1.676129	0.29783|0.29783	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.53640	.|0.61;0.61	5.69|5.69	2.56|2.56	0.30785|0.30785	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.51160|0.51160	0.1658|0.1658	L|L	0.48935|0.48935	1.535|1.535	0.45607|0.45607	D|D	0.998546|0.998546	.|P;P;P	.|0.45212	.|0.823;0.823;0.853	.|P;P;P	.|0.53102	.|0.595;0.595;0.718	T|T	0.43458|0.43458	-0.9390|-0.9390	5|9	.|0.35671	.|T	.|0.21	.|.	11.5739|11.5739	0.50850|0.50850	0.2318:0.0:0.7682:0.0|0.2318:0.0:0.7682:0.0	.|.	.|362;315;362	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	H|D	52|362;362;315	.|ENSP00000355243:E362D;ENSP00000441802:E362D	.|ENSP00000330302:E315D	D|E	+|+	1|3	0|2	PCDH7|PCDH7	30333228|30333228	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.003000|0.003000	0.03518|0.03518	3.394000|3.394000	0.52551|0.52551	0.742000|0.742000	0.32697|0.32697	-0.136000|-0.136000	0.14681|0.14681	GAC|GAG	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360366.1		+	ENST00000361762.2	Missense_Mutation	SNP	4 : 30724130 - 30724130 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	324	7
PCDH9	5101	broad.mit.edu	37	13	67799612	67799612	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:67799612A>C	ENST00000456367.1	-	2	3647	c.2961T>G	c.(2959-2961)agT>agG	p.S987R	PCDH9_ENST00000377861.3_Missense_Mutation_p.S987R|PCDH9_ENST00000328454.5_Missense_Mutation_p.S987R|PCDH9_ENST00000377865.2_Missense_Mutation_p.S987R|PCDH9_ENST00000544246.1_Missense_Mutation_p.S987R	NM_020403.4	NP_065136.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	987					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTGATCTGAACTAGTGGAAG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	115	117			NA	NA	13		NA											NA				67799612		2203	4300	6503	SO:0001583	missense			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226	5101	5101		Cadherins / Protocadherins : Non-clustered	8661	protein-coding gene	gene with protein product		603581			NA	9787079	Standard	NM_203487	NM_020403	NA	Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000456367.1:c.2961T>G	13.37:g.67799612A>C	ENSP00000401699:p.Ser987Arg	NA	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	37	CCDS9443.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258886	0.39896	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.63	5.63	0.86233	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	L	0.61218	1.895	0.58432	D	0.999993	D;D;D;D	0.71674	0.998;0.996;0.998;0.998	D;D;D;D	0.74023	0.982;0.955;0.969;0.982	T	0.57797	-0.7749	10	0.49607	T	0.09	.	15.8249	0.78690	1.0:0.0:0.0:0.0	.	987;987;987;987	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	R	987	ENSP00000442186:S987R;ENSP00000367096:S987R;ENSP00000401699:S987R;ENSP00000332060:S987R;ENSP00000367092:S987R	ENSP00000332060:S987R	S	-	3	2	PCDH9	66697613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.163000	0.50763	2.142000	0.66516	0.533000	0.62120	AGT	PCDH9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045214.2		-	ENST00000456367.1	Missense_Mutation	SNP	13 : 67799612 - 67799612 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	470	147
PCDHA13	56136	broad.mit.edu	37	5	140308195	140308195	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:140308195C>T	ENST00000409494.1	+	1	2455				PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S573F|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.S573F|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031865.1	NP_114071.1			protocadherin alpha 13	NA										NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCCGCTCTGCCAGGACT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(147;1739 1852 5500 27947 37288)							NA				0													110	115	113			NA	NA	5		NA											NA				140308195		2203	4300	6503	SO:0001627	intron_variant			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389	56136	56136		Cadherins / Protocadherins : Clustered	8667	other	complex locus constituent	KIAA0345-like 1, ortholog of mouse CNR5	606319		CNRS5	NA	10380929, 10662547	Standard	NM_018904	NM_018904	NA	Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000409494.1:c.2394+43948C>T	5.37:g.140308195C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	4.946	0.175719	0.09391	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.60920	0.15;0.15	5.95	1.95	0.26073	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.61400	0.2344	M	0.83483	2.645	0.22226	N	0.999273	B;B	0.31209	0.313;0.043	B;B	0.41236	0.351;0.047	T	0.59101	-0.7517	9	0.49607	T	0.09	.	2.6964	0.05136	0.2432:0.478:0.1188:0.1601	.	573;573	Q9H158;Q9H158-2	PCDC1_HUMAN;.	F	573	ENSP00000386356:S573F;ENSP00000253807:S573F	ENSP00000253807:S573F	S	+	2	0	PCDHAC1	140288379	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.405000	0.21015	0.376000	0.24707	0.563000	0.77884	TCT	PCDHA13-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000251809.2		+	ENST00000409494.1	Intron	SNP	5 : 140308195 - 140308195 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	534	10
PCLO	27445	broad.mit.edu	37	7	82585369	82585369	+	Missense_Mutation	SNP	C	C	T	rs75707968	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:82585369C>T	ENST00000333891.9	-	5	5237	c.4900G>A	c.(4900-4902)Gat>Aat	p.D1634N	PCLO_ENST00000423517.2_Missense_Mutation_p.D1634N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATGCTTCATCGTCTTCATCA	0.428		NA											C	12	0.01	0.02	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0055	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	ASN/ASP,ASN/ASP	9,4045		0,9,2018	296	280	285		4900,4900	5.3	0.6	7	dbSNP_132	285	0,8344		0,0,4172	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	23,23	0,9,6190	TT,TC,CC	NA	0.0,0.222,0.0726	probably-damaging,probably-damaging	1634/4936,1634/5143	82585369	9,12389	2027	4172	6199	SO:0001583	missense			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4900G>A	7.37:g.82585369C>T	ENSP00000334319:p.Asp1634Asn	NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	C	12.57	1.979136	0.34942	0.00222	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20332	2.08;2.09	5.32	5.32	0.75619	.	.	.	.	.	T	0.26955	0.0660	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65773	0.938;0.938	T	0.11131	-1.0600	9	0.87932	D	0	.	18.9962	0.92813	0.0:1.0:0.0:0.0	.	1634;1634	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1565;1634;1634	ENSP00000334319:D1634N;ENSP00000388393:D1634N	ENSP00000334319:D1634N	D	-	1	0	PCLO	82423305	1.000000	0.71417	0.638000	0.29380	0.917000	0.54804	5.333000	0.65917	2.483000	0.83821	0.655000	0.94253	GAT	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Missense_Mutation	SNP	7 : 82585369 - 82585369 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1164	236
PDGFC	56034	broad.mit.edu	37	4	157689125	157689125	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:157689125G>A	ENST00000502773.1	-	5	1211	c.721C>T	c.(721-723)Cta>Tta	p.L241L	PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Silent_p.L78L|PDGFC_ENST00000542208.1_Silent_p.L86L|PDGFC_ENST00000422544.2_Silent_p.L241L	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	241					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCCTCTGTTAGAAGGTTCAGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	134	137			NA	NA	4		NA											NA				157689125		2203	4300	6503	SO:0001819	synonymous_variant			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431	56034	56034			8801	protein-coding gene	gene with protein product		608452			NA	10858496, 10858548	Standard		NM_016205	NA	Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.721C>T	4.37:g.157689125G>A		NA	B9EGR8|Q4W5M9|Q9UL22	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841530	0.16963	.	.	ENSG00000145431	ENST00000543489	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.74703	0.3751	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73830	-0.3859	5	0.40728	T	0.16	-7.46	18.7512	0.91816	0.0:0.0:1.0:0.0	.	.	.	.	F	155	.	ENSP00000446162:S155F	S	-	2	0	PDGFC	157908575	1.000000	0.71417	0.747000	0.31113	0.955000	0.61496	5.667000	0.68067	2.434000	0.82447	0.655000	0.94253	TCT	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366123.1		-	ENST00000502773.1	Silent	SNP	4 : 157689125 - 157689125 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	681	28
PHF5A	84844	broad.mit.edu	37	22	41863571	41863571	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:41863571G>C	ENST00000216252.3	-	3	195	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	42					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATGCGCACCAGAGTGCAGGGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(15;130 571 1826 2981 46141)							NA				0													113	97	102			NA	NA	22		NA											NA				41863571		2203	4300	6503	SO:0001583	missense			BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410	84844	84844		Zinc fingers, PHD-type	18000	protein-coding gene	gene with protein product	splicing factor 3b, subunit 7				NA	12054543, 12234937, 18076038	Standard	NM_032758	NM_032758	NA	Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.124C>G	22.37:g.41863571G>C	ENSP00000216252:p.Leu42Val	NA	Q9UH06	37	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064935	0.55432	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.72353	2.195	0.80722	D	1	B	0.30664	0.289	B	0.40940	0.344	T	0.65957	-0.6042	9	0.41790	T	0.15	-12.734	11.3569	0.49621	0.1449:0.0:0.8551:0.0	.	42	Q7RTV0	PHF5A_HUMAN	V	42	.	ENSP00000216252:L42V	L	-	1	2	PHF5A	40193517	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.705000	0.54823	1.476000	0.48215	0.655000	0.94253	CTG	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320686.1		-	ENST00000216252.3	Missense_Mutation	SNP	22 : 41863571 - 41863571 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	404	7
PIEZO2	63895	broad.mit.edu	37	18	10691258	10691258	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:10691258C>G	ENST00000302079.6	-	44	6974	c.6975G>C	c.(6973-6975)aaG>aaC	p.K2325N	PIEZO2_ENST00000580640.1_Missense_Mutation_p.K2350N|PIEZO2_ENST00000538948.1_Missense_Mutation_p.K282N|PIEZO2_ENST00000285141.4_Missense_Mutation_p.K180N|PIEZO2_ENST00000503781.3_Missense_Mutation_p.K2325N			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2325						integral to membrane	ion channel activity				NA						AATTGTAGCTCTTGGTGAGGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	114	119			NA	NA	18		NA											NA				10691258		2203	4300	6503	SO:0001583	missense			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864	63895	63895			26270	protein-coding gene	gene with protein product		613629	chromosome 18 open reading frame 30, chromosome 18 open reading frame 58, family with sequence similarity 38, member B	FAM38B2, C18orf30, C18orf58, FAM38B	NA	20813920, 21056836, 21299953	Standard	NM_022068	NM_022068	NA	Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000302079.6:c.6975G>C	18.37:g.10691258C>G	ENSP00000303316:p.Lys2325Asn	NA	B7Z812|Q8N787|Q8NAR6|Q9H5R4	37		.	.	.	.	.	.	.	.	.	.	C	18.70	3.679837	0.68042	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.75938	-0.98;-0.94;-0.82	5.62	3.47	0.39725	.	0.142737	0.47455	D	0.000228	T	0.78477	0.4289	L	0.60455	1.87	0.47737	D	0.999505	D	0.76494	0.999	D	0.71656	0.974	T	0.75986	-0.3124	10	0.36615	T	0.2	.	4.6022	0.12359	0.0:0.5856:0.0:0.4143	.	282	D6RFZ0	.	N	282;2325;282;180	ENSP00000303316:K2325N;ENSP00000443129:K282N;ENSP00000285141:K180N	ENSP00000285141:K180N	K	-	3	2	FAM38B	10681258	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.258000	0.51507	1.525000	0.49052	-0.122000	0.15005	AAG	PIEZO2-007	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000254528.5		-	ENST00000302079.6	Missense_Mutation	SNP	18 : 10691258 - 10691258 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	627	184
PIGQ	9091	broad.mit.edu	37	16	633027	633027	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:633027C>A	ENST00000321878.5	+	11	1897	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	PIGQ_ENST00000026218.5_Missense_Mutation_p.A559E|PIGQ_ENST00000409527.2_Missense_Mutation_p.Q580K	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGGGGACAAGCAGGACTGAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	57	56			NA	NA	16		NA											NA				633027		2201	4300	6501	SO:0001583	missense			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541	9091	9091		Phosphatidylinositol glycan anchor biosynthesis	14135	protein-coding gene	gene with protein product		605754	phosphatidylinositol glycan, class Q		NA	9463366, 9729469	Standard	NM_004204	NM_004204	NA	Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000321878.5:c.1738C>A	16.37:g.633027C>A	ENSP00000326674:p.Gln580Lys	NA	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	37	CCDS10412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.085822|2.085822	0.36758|0.36758	.|.	.|.	ENSG00000007541|ENSG00000007541	ENST00000026218|ENST00000409527;ENST00000321878;ENST00000540241	T|T;T	0.22945|0.44482	1.93|0.92;0.92	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	1.882170|.	0.02546|.	N|.	0.095120|.	T|T	0.28995|0.28995	0.0720|0.0720	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;P|B	0.89917|0.23249	1.0;0.506|0.082	D;B|B	0.76575|0.24269	0.988;0.044|0.052	T|T	0.12656|0.12656	-1.0539|-1.0539	10|9	0.72032|0.62326	D|D	0.01|0.03	-6.9865|-6.9865	18.0399|18.0399	0.89316|0.89316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	129;559|580	B3KRR7;Q9BRB3|Q9BRB3-2	.;PIGQ_HUMAN|.	E|K	559|580;580;138	ENSP00000026218:A559E|ENSP00000386760:Q580K;ENSP00000326674:Q580K	ENSP00000026218:A559E|ENSP00000326674:Q580K	A|Q	+|+	2|1	0|0	PIGQ|PIGQ	573028|573028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	1.786000|1.786000	0.38694|0.38694	2.618000|2.618000	0.88619|0.88619	0.462000|0.462000	0.41574|0.41574	GCA|CAG	PIGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109083.3		+	ENST00000321878.5	Missense_Mutation	SNP	16 : 633027 - 633027 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	621	31
PIP4K2B	8396	broad.mit.edu	37	17	36940505	36940505	+	Silent	SNP	C	C	T	rs143351168	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:36940505C>T	ENST00000269554.3	-	3	825	c.345G>A	c.(343-345)caG>caA	p.Q115Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	115	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CCTGGTAATCCTGATCATCAA	0.502		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													92	76	82			NA	NA	17		NA											NA				36940505		2203	4300	6503	SO:0001819	synonymous_variant			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	8396	8396	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	phosphatidylinositol-4-phosphate 5-kinase, type II, beta	PIP5K2B	NA	9038203, 14691457, 9367159	Standard	NM_003559	NM_003559	NA	Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.345G>A	17.37:g.36940505C>T		NA	Q5U0E8|Q8TBP2	37	CCDS11329.1																																																																																			PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256791.1		-	ENST00000269554.3	Silent	SNP	17 : 36940505 - 36940505 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	245	5
PNKD	25953	broad.mit.edu	37	2	219204548	219204548	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:219204548C>T	ENST00000273077.4	+	3	330	c.279C>T	c.(277-279)taC>taT	p.Y93Y	AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Silent_p.Y33Y|PNKD_ENST00000258362.3_Silent_p.Y69Y	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	93						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCTTCTACCGACAGCAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	56			NA	NA	2		NA											NA				219204548		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838	25953	25953			9153	protein-coding gene	gene with protein product	myofibrillogenesis regulator 1	609023	paroxysmal nonkinesiogenic dyskinesia		NA	8659518	Standard		NM_015488	NA	Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.279C>T	2.37:g.219204548C>T		NA	A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	37	CCDS2411.1																																																																																			PNKD-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256775.2		+	ENST00000273077.4	Silent	SNP	2 : 219204548 - 219204548 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	235	11
POPDC3	64208	broad.mit.edu	37	6	105609437	105609437	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:105609437G>A	ENST00000254765.3	-	2	626	c.348C>T	c.(346-348)ttC>ttT	p.F116F	BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	116						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CCAGGGGCTGGAAAAGGGAGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	148	145			NA	NA	6		NA											NA				105609437		2203	4300	6503	SO:0001819	synonymous_variant			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429	64208	64208			17649	protein-coding gene	gene with protein product		605824			NA	10882522	Standard	NM_022361	NM_022361	NA	Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.348C>T	6.37:g.105609437G>A		NA	B2RA98|Q5T3Y8|Q8TBW6	37	CCDS5052.1																																																																																			POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041651.1		-	ENST00000254765.3	Silent	SNP	6 : 105609437 - 105609437 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	740	344
PREX1	57580	broad.mit.edu	37	20	47324868	47324868	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:47324868T>C	ENST00000371941.3	-	6	735	c.713A>G	c.(712-714)aAt>aGt	p.N238S	PREX1_ENST00000396220.1_Missense_Mutation_p.N238S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	238	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGGTCTCATTGATGTTGGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	138	137			NA	NA	20		NA											NA				47324868		2203	4300	6503	SO:0001583	missense			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.713A>G	20.37:g.47324868T>C	ENSP00000361009:p.Asn238Ser	NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898230	0.91962	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.75589	-0.95;-0.95	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000019	D	0.88250	0.6386	H	0.98089	4.145	0.80722	D	1	P	0.39551	0.678	P	0.47075	0.536	D	0.91608	0.5300	10	0.87932	D	0	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	238	Q8TCU6	PREX1_HUMAN	S	238	ENSP00000361009:N238S;ENSP00000379522:N238S	ENSP00000361009:N238S	N	-	2	0	PREX1	46758275	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	7.698000	0.84413	2.147000	0.66899	0.533000	0.62120	AAT	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Missense_Mutation	SNP	20 : 47324868 - 47324868 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1542	488
PRKDC	5591	broad.mit.edu	37	8	48691183	48691183	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:48691183A>C	ENST00000523565.1	-	0	11745				PRKDC_ENST00000314191.2_Missense_Mutation_p.F3896C|PRKDC_ENST00000338368.3_Missense_Mutation_p.F3865C			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	NA					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGCGCCAGGAAAGCCTCAGG	0.562		NA						Non-homologous end-joining						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(79;1091 1253 12329 31680 40677)							NA				0													38	38	38			NA	NA	8		NA											NA				48691183		1976	4152	6128	SO:0001623	5_prime_UTR_variant				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	5591	5591	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	NA	7638222	Standard	NM_001081640	NM_001081640	NA	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.-1763T>G	8.37:g.48691183A>C		NA	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	37		.	.	.	.	.	.	.	.	.	.	A	18.53	3.644011	0.67244	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	D;D	0.83250	-1.7;-1.7	5.52	5.52	0.82312	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.987	D	0.94371	0.7596	10	0.87932	D	0	.	15.6454	0.77046	1.0:0.0:0.0:0.0	.	3865;3897	E7EUY0;P78527	.;PRKDC_HUMAN	C	3896;3865	ENSP00000313420:F3896C;ENSP00000345182:F3865C	ENSP00000313420:F3896C	F	-	2	0	PRKDC	48853736	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	8.843000	0.92142	2.084000	0.62774	0.533000	0.62120	TTC	PRKDC-002	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000377896.1		-	ENST00000523565.1	5'UTR	SNP	8 : 48691183 - 48691183 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	124	29
PRL	5617	broad.mit.edu	37	6	22290545	22290545	+	Missense_Mutation	SNP	C	C	T	rs139327343	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:22290545C>T	ENST00000306482.1	-	4	868	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	117					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					ATTCCAGGATCGCAATATGCT	0.423		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0								C	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	116	109	112		350,350	4.1	0.9	6	dbSNP_134	112	0,8600		0,0,4300	yes	missense,missense	PRL	NM_000948.5,NM_001163558.2	43,43	0,3,6500	TT,TC,CC	NA	0.0,0.0681,0.0231	benign,benign	117/228,117/228	22290545	3,13003	2203	4300	6503	SO:0001583	missense			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179	5617	5617			9445	protein-coding gene	gene with protein product		176760			NA		Standard	NM_000948	NM_000948	NA	Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.350G>A	6.37:g.22290545C>T	ENSP00000302150:p.Arg117Gln	NA	Q15199|Q92996	37	CCDS4548.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.55	1.972820	0.34848	6.81E-4	0.0	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.87650	-2.28	5.87	4.05	0.47172	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.376195	0.34088	N	0.004279	T	0.68311	0.2987	L	0.42245	1.32	0.38772	D	0.954562	B;P	0.42556	0.148;0.783	B;B	0.34873	0.023;0.191	T	0.66468	-0.5916	10	0.26408	T	0.33	1.517	10.4581	0.44563	0.135:0.7953:0.0:0.0697	.	117;118	P01236;Q5I0G2	PRL_HUMAN;.	Q	117;86	ENSP00000302150:R117Q	ENSP00000302150:R117Q	R	-	2	0	PRL	22398524	0.993000	0.37304	0.907000	0.35723	0.318000	0.28184	2.575000	0.46025	0.887000	0.36136	0.655000	0.94253	CGA	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043327.1		-	ENST00000306482.1	Missense_Mutation	SNP	6 : 22290545 - 22290545 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	383	186
PRSS57	400668	broad.mit.edu	37	19	691972	691972	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:691972G>A	ENST00000329267.7	-	3	296	c.267C>T	c.(265-267)ggC>ggT	p.G89G		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						GGACGTGGGCGCCCAGCACCA	0.662		NA											G	2	9e-04	0.002	0.0028	2184	NA	0.998	,	,	NA	4e-04	NA	NA	NA	0.0014	0.5296	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	56	35	42		267	-7.7	0.8	19		42	0,8596		0,0,4298	no	coding-synonymous	PRSS57	NM_214710.3		0,1,6500	AA,AG,GG	NA	0.0,0.0227,0.0077		89/284	691972	1,13001	2203	4298	6501	SO:0001819	synonymous_variant			AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198	400668	400668		Serine peptidases / Serine peptidases	31397	protein-coding gene	gene with protein product			protease, serine-like 1	PRSSL1	NA	12975309	Standard	NM_214710	NM_214710	NA	Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.267C>T	19.37:g.691972G>A		NA	B2RNW8	37	CCDS12041.1																																																																																			PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452480.2		-	ENST00000329267.7	Silent	SNP	19 : 691972 - 691972 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	85	34
PRX	57716	broad.mit.edu	37	19	40900573	40900573	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40900573C>T	ENST00000324001.7	-	7	3956	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1229	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGCCTCTCGGCTTAGCCC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	39	39			NA	NA	19		NA											NA				40900573		2203	4300	6503	SO:0001583	missense			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227	57716	57716			13797	protein-coding gene	gene with protein product		605725			NA	10839370, 9143514	Standard	NM_020956	NM_181882	NA	Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3686G>A	19.37:g.40900573C>T	ENSP00000326018:p.Arg1229Gln	NA	Q9BXL9|Q9HCF2	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616264	0.28801	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01043	5.41	4.99	1.46	0.22682	.	0.789709	0.10820	N	0.630577	T	0.01124	0.0037	L	0.36672	1.1	0.09310	N	0.999995	P	0.51791	0.948	B	0.39503	0.301	T	0.54450	-0.8292	10	0.34782	T	0.22	-0.1423	6.6701	0.23064	0.0:0.5058:0.0:0.4942	.	1229	Q9BXM0	PRAX_HUMAN	Q	1229;1164	ENSP00000326018:R1229Q	ENSP00000326018:R1229Q	R	-	2	0	PRX	45592413	0.011000	0.17503	0.566000	0.28421	0.631000	0.37964	0.073000	0.14640	0.529000	0.28599	0.561000	0.74099	CGA	PRX-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462582.1		-	ENST00000324001.7	Missense_Mutation	SNP	19 : 40900573 - 40900573 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	480	14
PTPRD	5789	broad.mit.edu	37	9	8341947	8341947	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:8341947C>T	ENST00000381196.4	-	37	5236	c.4693G>A	c.(4693-4695)Gtc>Atc	p.V1565I	PTPRD_ENST00000355233.5_Missense_Mutation_p.V1159I|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1158I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1565I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1565I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1155I|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1155I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1552I|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1543I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1565	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V1565I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCATCTATGACGATGAAGCAA	0.358		NA								TSP Lung(15;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											67	67	67			NA	NA	9		NA											NA				8341947		2203	4300	6503	SO:0001583	missense			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707	5789	5789		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9668	protein-coding gene	gene with protein product		601598			NA	7896816, 8355697	Standard		NM_002839	NA	Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4693G>A	9.37:g.8341947C>T	ENSP00000370593:p.Val1565Ile	NA	B1ALA0	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619525	0.46736	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	6.07	5.17	0.71159	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.92367	3.3	0.58432	D	0.999999	B;B;B;B;D;B;D;P;D	0.89917	0.137;0.137;0.137;0.137;0.979;0.113;1.0;0.918;1.0	B;B;B;B;P;B;D;B;D	0.74348	0.047;0.047;0.047;0.047;0.532;0.028;0.983;0.38;0.981	T	0.75895	-0.3156	9	.	.	.	.	16.7686	0.85531	0.1302:0.8698:0.0:0.0	.	1158;1149;1158;1159;1155;1155;1552;1565;1565	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1565;1565;1552;1543;1159;1158;1155;1155;1036;1565;1158;1158	ENSP00000370593:V1565I;ENSP00000348812:V1565I;ENSP00000353187:V1552I;ENSP00000351293:V1543I;ENSP00000347373:V1159I;ENSP00000380741:V1158I;ENSP00000380735:V1155I;ENSP00000440515:V1155I;ENSP00000438164:V1565I;ENSP00000417093:V1158I;ENSP00000380731:V1158I	.	V	-	1	0	PTPRD	8331947	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	7.445000	0.80570	1.559000	0.49555	-0.181000	0.13052	GTC	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055395.3		-	ENST00000381196.4	Missense_Mutation	SNP	9 : 8341947 - 8341947 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	267	10
R3HCC1L	27291	broad.mit.edu	37	10	100003867	100003867	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:100003867C>T	ENST00000298999.3	+	10	2592	c.2289C>T	c.(2287-2289)gcC>gcT	p.A763A	R3HCC1L_ENST00000370586.2_Silent_p.A169A|R3HCC1L_ENST00000314594.5_Silent_p.A179A|R3HCC1L_ENST00000370584.3_Silent_p.A763A	NM_014472.4	NP_055287			R3H domain and coiled-coil containing 1-like	NA											NA						GGTTGGAAGCCAAGCAACGGG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	112	116			NA	NA	10		NA											NA				100003867		2203	4300	6503	SO:0001819	synonymous_variant			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024	27291	27291			23512	protein-coding gene	gene with protein product			chromosome 10 open reading frame 28	C10orf28	NA		Standard	NM_014472	NM_014472	NA	Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.2289C>T	10.37:g.100003867C>T		NA		37	CCDS31267.1																																																																																			R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049764.1		+	ENST00000298999.3	Silent	SNP	10 : 100003867 - 100003867 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	352	62
RAB11FIP3	9727	broad.mit.edu	37	16	476687	476687	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:476687C>T	ENST00000262305.4	+	1	1069	c.681C>T	c.(679-681)ttC>ttT	p.F227F	RAB11FIP3_ENST00000457159.1_Silent_p.F227F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	227	EF-hand 1.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TCGAGGACTTCATCCAGTTTG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(160;2366 2595 4474 8099)							NA				0													28	37	34			NA	NA	16		NA											NA				476687		2198	4298	6496	SO:0001819	synonymous_variant			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565	9727	9727		EF-hand domain containing	17224	protein-coding gene	gene with protein product		608738			NA	9734811, 11481332	Standard	NM_014700	NM_014700	NA	Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.681C>T	16.37:g.476687C>T		NA	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	37	CCDS32351.1																																																																																			RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109066.4		+	ENST00000262305.4	Silent	SNP	16 : 476687 - 476687 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	209	5
RANBP2	5903	broad.mit.edu	37	2	109367778	109367778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:109367778G>A	ENST00000283195.6	+	10	1458	c.1332G>A	c.(1330-1332)tgG>tgA	p.W444*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	444					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCTTACAGTGGAATTCATTGC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	2		NA											NA				109367778		1439	2642	4081	SO:0001587	stop_gained			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1332G>A	2.37:g.109367778G>A	ENSP00000283195:p.Trp444*	NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	39	7.400347	0.98262	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6229	18.8314	0.92141	0.0:0.0:1.0:0.0	.	.	.	.	X	444	.	ENSP00000283195:W444X	W	+	3	0	RANBP2	108734210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.957000	0.93082	2.521000	0.84997	0.650000	0.86243	TGG	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Nonsense_Mutation	SNP	2 : 109367778 - 109367778 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	560	220
RGAG1	57529	broad.mit.edu	37	X	109697313	109697313	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:109697313A>G	ENST00000465301.2	+	3	3714	c.3468A>G	c.(3466-3468)gaA>gaG	p.E1156E	RGAG1_ENST00000540313.1_Silent_p.E1156E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1156										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGAGCAGGAAGCAGCCCGGG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	96	98			NA	NA	X		NA											NA				109697313		2203	4300	6503	SO:0001819	synonymous_variant			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978	57529	57529			29245	protein-coding gene	gene with protein product					NA	10718198, 15716091, 16093683	Standard	NM_020769	NM_020769	NA	Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3468A>G	X.37:g.109697313A>G		NA	Q9P2M8	37	CCDS14552.1																																																																																			RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057906.2		+	ENST00000465301.2	Silent	SNP	X : 109697313 - 109697313 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	396	48
RHCE	6006	broad.mit.edu	37	1	25717263	25717263	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:25717263G>A	ENST00000349320.3	-	7	1118	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	RHCE_ENST00000413854.1_Missense_Mutation_p.H260Y|RHCE_ENST00000349438.4_Missense_Mutation_p.H260Y|RHCE_ENST00000243186.6_Missense_Mutation_p.H260Y|RHCE_ENST00000294413.7_Missense_Mutation_p.H260Y|RHCE_ENST00000425135.1_Missense_Mutation_p.H260Y|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.H244Y|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000346452.4_Intron			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	260						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGGGGGTGAGCCAAGGAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	134	142			NA	NA	1		NA											NA				25717263		2203	4300	6503	SO:0001583	missense			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672	6006	6006		CD molecules, Blood group antigens	10008	protein-coding gene	gene with protein product		111700	Rhesus blood group, CcEe antigens	RH	NA	8220426	Standard	NM_020485	NM_138618	NA	Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000349320.3:c.730C>T	1.37:g.25717263G>A	ENSP00000311185:p.His244Tyr	NA	A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	37		.	.	.	.	.	.	.	.	.	.	g	10.01	1.233543	0.22626	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.23	3.3	0.37823	Ammonium transporter AmtB-like (3);	0.534254	0.19648	N	0.109285	T	0.50222	0.1603	M	0.83953	2.67	0.19300	N	0.999972	D;D;D	0.69078	0.988;0.997;0.964	D;D;D	0.77004	0.916;0.943;0.989	T	0.37709	-0.9694	10	0.87932	D	0	-2.9623	9.4703	0.38837	0.0:0.0:0.7883:0.2117	.	244;260;260	Q5VSJ9;Q5VSJ8;P18577	.;.;RHCE_HUMAN	Y	260;202;244;260;260;244;260;260;260	ENSP00000415417:H260Y;ENSP00000363472:H244Y;ENSP00000243186:H260Y;ENSP00000392809:H260Y;ENSP00000311185:H244Y;ENSP00000294413:H260Y;ENSP00000334570:H260Y	ENSP00000243186:H260Y	H	-	1	0	RHCE	25589850	0.912000	0.30974	0.077000	0.20336	0.051000	0.14879	2.349000	0.44054	1.106000	0.41623	0.591000	0.81541	CAC	RHCE-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000101974.1		-	ENST00000349320.3	Missense_Mutation	SNP	1 : 25717263 - 25717263 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	674	65
RINT1	60561	broad.mit.edu	37	7	105182892	105182892	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:105182892G>A	ENST00000477285.1	+	0	293				RINT1_ENST00000257700.2_Missense_Mutation_p.R104Q			Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	NA					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAAAGAATTCGAAGTGCCTTA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	67	65			NA	NA	7		NA											NA				105182892		2203	4300	6503	SO:0001624	3_prime_UTR_variant			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249	60561	60561			21876	protein-coding gene	gene with protein product		610089			NA	11096100, 15029241	Standard	NM_021930	NM_021930	NA	Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000477285.1:c.*290G>A	7.37:g.105182892G>A		NA	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	37		.	.	.	.	.	.	.	.	.	.	G	2.986	-0.209338	0.06140	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.20463	2.07	4.63	3.47	0.39725	.	0.315890	0.35179	N	0.003399	T	0.04497	0.0123	N	0.00268	-1.735	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.39057	-0.9632	10	0.09843	T	0.71	-1.5379	10.271	0.43483	0.9205:0.0:0.0795:0.0	.	104	Q6NUQ1	RINT1_HUMAN	Q	104;73	ENSP00000257700:R104Q	ENSP00000257700:R104Q	R	+	2	0	RINT1	104970128	1.000000	0.71417	0.986000	0.45419	0.841000	0.47740	4.133000	0.57983	0.606000	0.29965	-0.959000	0.02639	CGA	RINT1-005	PUTATIVE	mRNA_end_NF|basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000348690.1		+	ENST00000477285.1	3'UTR	SNP	7 : 105182892 - 105182892 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	384	40
RNF26	79102	broad.mit.edu	37	11	119206987	119206987	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119206987C>T	ENST00000311413.4	+	1	1751	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	385							zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCCAGGACCAGAGCAAGA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	88	94			NA	NA	11		NA											NA				119206987		2199	4295	6494	SO:0001819	synonymous_variant			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456	79102	79102		RING-type (C3HC4) zinc fingers	14646	protein-coding gene	gene with protein product	ring finger protein with leucine zipper	606130			NA	11352657	Standard	NM_032015	NM_032015	NA	Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1155C>T	11.37:g.119206987C>T		NA	Q542Y8	37	CCDS8419.1																																																																																			RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388220.1		+	ENST00000311413.4	Silent	SNP	11 : 119206987 - 119206987 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	421	16
RP1-309K20.6	0	broad.mit.edu	37	20	34262340	34262340	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:34262340G>A	ENST00000541176.2	-	2	46	c.47C>T	c.(46-48)tCt>tTt	p.S16F	NFS1_ENST00000541387.1_Silent_p.L305L|NFS1_ENST00000397425.1_Silent_p.L296L|NFS1_ENST00000374085.1_Silent_p.L296L|NFS1_ENST00000540053.1_Silent_p.L154L|NFS1_ENST00000374092.4_Silent_p.L356L						0											NA						ATGCAAAGGAGAGGTTGATAC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	106			NA	NA	20		NA											NA				34262340		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000541176.2:c.47C>T	20.37:g.34262340G>A	ENSP00000443983:p.Ser16Phe	NA		37																																																																																				RP1-309K20.6-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000472146.1		-	ENST00000541176.2	Missense_Mutation	SNP	20 : 34262340 - 34262340 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	603	8
SC5D	6309	broad.mit.edu	37	11	121174258	121174258	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:121174258C>T	ENST00000392789.2	+	2	411	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SC5D_ENST00000264027.4_Silent_p.F58F|SC5D_ENST00000534230.1_Silent_p.F58F	NM_001024956.2	NP_001020127.1			sterol-C5-desaturase	NA								p.F58F(1)			NA						ATTTTGTCTTCGATCATGCAT	0.294		NA											c	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	8e-04	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)											156	152	154			NA	NA	11		NA											NA				121174258		2203	4299	6502	SO:0001819	synonymous_variant				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	6309	6309	1.14.21.6	Fatty acid hydroxylase domain containing	10547	protein-coding gene	gene with protein product	lathosterol oxidase	602286	sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like, sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like, sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like	SC5DL	NA	8976377	Standard	NM_001024956	NM_006918	NA	Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.174C>T	11.37:g.121174258C>T		NA		37	CCDS8435.1																																																																																			SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387702.1		+	ENST00000392789.2	Silent	SNP	11 : 121174258 - 121174258 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	359	77
SCAP	22937	broad.mit.edu	37	3	47455391	47455391	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:47455391C>T	ENST00000265565.5	-	23	4205	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	SCAP_ENST00000441517.2_Missense_Mutation_p.E1009K|SCAP_ENST00000545718.1_Missense_Mutation_p.E872K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1265	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGCTGAGCTCACTGCCAAAG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(149;978 1908 29304 37806 46700)							NA				0													148	149	149			NA	NA	3		NA											NA				47455391		2203	4300	6503	SO:0001583	missense			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650	22937	22937		WD repeat domain containing	30634	protein-coding gene	gene with protein product	SREBP cleavage activating protein	601510			NA	8898195, 8724849, 10570913	Standard	NM_012235	XM_005264967	NA	Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3793G>A	3.37:g.47455391C>T	ENSP00000265565:p.Glu1265Lys	NA	Q8N2E0|Q8WUA1	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230099	0.95207	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.81078	-1.45;-1.41;0.74	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.995;0.985	P;P	0.57152	0.814;0.718	D	0.84115	0.0403	10	0.62326	D	0.03	-31.3009	18.0736	0.89421	0.0:1.0:0.0:0.0	.	1009;1265	F8W921;Q12770	.;SCAP_HUMAN	K	757;891;1265;1009;872	ENSP00000265565:E1265K;ENSP00000416847:E1009K;ENSP00000438956:E872K	ENSP00000265565:E1265K	E	-	1	0	SCAP	47430395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.427000	0.66483	2.596000	0.87737	0.655000	0.94253	GAG	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000246872.2		-	ENST00000265565.5	Missense_Mutation	SNP	3 : 47455391 - 47455391 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	1058	47
SECISBP2L	9728	broad.mit.edu	37	15	49304939	49304939	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:49304939G>A	ENST00000559471.1	-	12	1900	c.1637C>T	c.(1636-1638)aCa>aTa	p.T546I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T501I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	546										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATTAAAGGATGTCAAACAGGG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	128	126			NA	NA	15		NA											NA				49304939		2197	4295	6492	SO:0001583	missense			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593	9728	9728			28997	protein-coding gene	gene with protein product		615756			NA		Standard	NM_014701	NM_001193489	NA	Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1637C>T	15.37:g.49304939G>A	ENSP00000453854:p.Thr546Ile	NA	Q8N767	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384582	0.42308	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72394	-0.65	5.76	4.84	0.62591	.	0.433340	0.26248	N	0.025473	T	0.60405	0.2266	L	0.39147	1.195	0.30747	N	0.745561	B;B	0.20988	0.012;0.05	B;B	0.18561	0.006;0.022	T	0.62115	-0.6922	10	0.54805	T	0.06	.	9.5017	0.39022	0.0802:0.2533:0.6665:0.0	.	546;501	Q93073;Q93073-2	SBP2L_HUMAN;.	I	501;546	ENSP00000261847:T501I	ENSP00000261847:T501I	T	-	2	0	SECISBP2L	47092231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.936000	0.48971	1.433000	0.47394	0.650000	0.86243	ACA	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417277.1		-	ENST00000559471.1	Missense_Mutation	SNP	15 : 49304939 - 49304939 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	513	19
SEZ6L	23544	broad.mit.edu	37	22	26688941	26688941	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:26688941G>A	ENST00000360929.3	+	2	820	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SEZ6L_ENST00000529632.2_Missense_Mutation_p.G222R|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G222R|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G222R	NM_001184776.1	NP_001171705.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	222						endoplasmic reticulum membrane|integral to membrane		p.G222K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCAGAACCCGGGGAGCCTGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	skin(1)											34	39	38			NA	NA	22		NA											NA				26688941		2198	4298	6496	SO:0001583	missense			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095	23544	23544			10763	protein-coding gene	gene with protein product		607021	seizure related gene 6 (mouse)-like		NA		Standard		NM_021115	NA	Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000360929.3:c.664G>A	22.37:g.26688941G>A	ENSP00000354185:p.Gly222Arg	NA	A0AUW7|B0QYG4|B0QYG5|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	37	CCDS54511.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552259	0.27739	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.26373	1.98;2.1;2.18;1.98;1.74	4.21	3.17	0.36434	.	0.807228	0.10049	U	0.722474	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	0.999994	B;B;B;B;B;B	0.28667	0.047;0.047;0.219;0.219;0.01;0.01	B;B;B;B;B;B	0.22880	0.013;0.008;0.042;0.042;0.003;0.003	T	0.19386	-1.0307	10	0.36615	T	0.2	.	12.2	0.54319	0.0:0.3302:0.6698:0.0	.	222;222;222;222;222;222	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	R	222	ENSP00000384772:G222R;ENSP00000437037:G222R;ENSP00000354185:G222R;ENSP00000248933:G222R;ENSP00000342661:G222R	ENSP00000248933:G222R	G	+	1	0	SEZ6L	25018941	0.138000	0.22547	0.016000	0.15963	0.054000	0.15201	0.882000	0.28186	0.870000	0.35726	0.405000	0.27470	GGG	SEZ6L-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320356.2		+	ENST00000360929.3	Missense_Mutation	SNP	22 : 26688941 - 26688941 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	428	18
SH2B1	25970	broad.mit.edu	37	16	28877903	28877903	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:28877903G>A	ENST00000545570.1	+	2	196				SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R163Q|SH2B1_ENST00000337120.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000322610.8_Missense_Mutation_p.R163Q|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.R163Q			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	NA					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CGCTCTGTCCGAGGCTCAGTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	16		NA											NA				28877903		2197	4300	6497	SO:0001627	intron_variant			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14					25970	25970		Pleckstrin homology (PH) domain containing, SH2 domain containing	30417	protein-coding gene	gene with protein product	SH2-B homolog	608937			NA	11827956, 10594240	Standard	NM_015503	NM_001145812	NA	Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000545570.1:c.10-749G>A	16.37:g.28877903G>A		NA	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	37		.	.	.	.	.	.	.	.	.	.	G	18.62	3.663858	0.67700	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.51325	0.71;0.72;0.73;0.73	3.95	3.95	0.45737	.	0.218237	0.26692	N	0.022987	T	0.40979	0.1139	N	0.14661	0.345	0.41978	D	0.990788	D;D;D	0.63880	0.991;0.974;0.993	P;P;P	0.51079	0.658;0.565;0.546	T	0.44711	-0.9310	10	0.46703	T	0.11	-31.1346	14.9215	0.70841	0.0:0.0:1.0:0.0	.	163;163;163	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	Q	163	ENSP00000321221:R163Q;ENSP00000352232:R163Q;ENSP00000378903:R163Q;ENSP00000337163:R163Q	ENSP00000321221:R163Q	R	+	2	0	SH2B1	28785404	0.996000	0.38824	0.972000	0.41901	0.952000	0.60782	2.673000	0.46858	2.055000	0.61198	0.455000	0.32223	CGA	SH2B1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432669.1		+	ENST00000545570.1	Intron	SNP	16 : 28877903 - 28877903 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	593	184
SH3BP4	23677	broad.mit.edu	37	2	235949825	235949825	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:235949825G>A	ENST00000409212.1	+	4	919	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	138					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGTAGCCAAGGAGCTGGAGCT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	85	85			NA	NA	2		NA											NA				235949825		2203	4300	6503	SO:0001583	missense			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147	23677	23677			10826	protein-coding gene	gene with protein product		605611			NA	10644451	Standard		NM_014521	NA	Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.412G>A	2.37:g.235949825G>A	ENSP00000386862:p.Glu138Lys	NA	O95082|Q309A3|Q53QD0|Q53TD1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080730	0.76528	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.34275	2.74;2.74;2.74;1.37	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.977;0.977	T	0.49485	-0.8935	10	0.54805	T	0.06	-0.3903	17.7288	0.88371	0.0:0.0:1.0:0.0	.	138;138	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	138	ENSP00000375867:E138K;ENSP00000386862:E138K;ENSP00000340237:E138K;ENSP00000415391:E138K	ENSP00000340237:E138K	E	+	1	0	SH3BP4	235614564	1.000000	0.71417	0.953000	0.39169	0.031000	0.12232	9.549000	0.98106	2.519000	0.84933	0.655000	0.94253	GAG	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329763.1		+	ENST00000409212.1	Missense_Mutation	SNP	2 : 235949825 - 235949825 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	373	48
SHROOM4	57477	broad.mit.edu	37	X	50377159	50377159	+	Silent	SNP	A	A	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:50377159A>G	ENST00000460112.3	-	3	2020	c.1566T>C	c.(1564-1566)tcT>tcC	p.S522S	SHROOM4_ENST00000376020.2_Silent_p.S638S|SHROOM4_ENST00000289292.7_Silent_p.S638S			Q9ULL8	SHRM4_HUMAN	shroom family member 4	638					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAGATAGAAGAGATGTGTTAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	60	59			NA	NA	X		NA											NA				50377159		2203	4300	6503	SO:0001819	synonymous_variant			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352	57477	57477			29215	protein-coding gene	gene with protein product		300579			NA	10574462, 16615870	Standard	NM_020717	NR_027121	NA	Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000460112.3:c.1566T>C	X.37:g.50377159A>G		NA	A7E2X9|D6RFW0|Q96LA0	37																																																																																				SHROOM4-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000056565.4		-	ENST00000460112.3	Silent	SNP	X : 50377159 - 50377159 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	403	46
SIPA1	6494	broad.mit.edu	37	11	65413984	65413984	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:65413984C>T	ENST00000527525.1	+	8	1726	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	SIPA1_ENST00000534313.1_Silent_p.G493G|SIPA1_ENST00000394227.3_Silent_p.G493G|SIPA1_ENST00000394224.3_Silent_p.G493G			Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	493	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCTGCTGGCGGAGGCCCCT	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	8	8			NA	NA	11		NA											NA				65413984		2172	4265	6437	SO:0001819	synonymous_variant			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445	6494	6494			10885	protein-coding gene	gene with protein product		602180			NA	9027487	Standard	NM_006747	NM_006747	NA	Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000527525.1:c.1479C>T	11.37:g.65413984C>T		NA	O14518|O60484|O60618|Q2YD83	37																																																																																				SIPA1-002	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390355.1		+	ENST00000527525.1	Silent	SNP	11 : 65413984 - 65413984 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	95	12
SLC7A10	56301	broad.mit.edu	37	19	33699875	33699875	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:33699875G>A	ENST00000253188.4	-	11	1640	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	NA					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CTTCGGGGGCGTCCTGGGGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	39	37			NA	NA	19		NA											NA				33699875		2202	4300	6502	SO:0001819	synonymous_variant			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876	56301	56301		Solute carriers	11058	protein-coding gene	gene with protein product		607959			NA	10734121, 10863037	Standard	NM_019849	NM_019849	NA	Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1494C>T	19.37:g.33699875G>A		NA	B2RE84	37	CCDS12431.1																																																																																			SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450846.2		-	ENST00000253188.4	Silent	SNP	19 : 33699875 - 33699875 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	252	74
SMYD5	10322	broad.mit.edu	37	2	73451115	73451115	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:73451115T>G	ENST00000389501.4	+	10	969	c.924T>G	c.(922-924)ttT>ttG	p.F308L		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	308	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTGGCCTCTTTGTGCTTCAGA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	209	216			NA	NA	2		NA											NA				73451115		2203	4300	6503	SO:0001583	missense			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632	10322	10322		Zinc fingers, MYND-type	16258	protein-coding gene	gene with protein product			retinoic acid induced 15	RAI15	NA	8754834	Standard	NM_006062	NM_006062	NA	Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.924T>G	2.37:g.73451115T>G	ENSP00000374152:p.Phe308Leu	NA	D6W5H3|Q13558	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521334	0.64747	.	.	ENSG00000135632	ENST00000389501	T	0.81415	-1.49	4.77	2.14	0.27477	SET domain (2);	0.218148	0.48767	D	0.000176	T	0.73125	0.3547	L	0.45581	1.43	0.40606	D	0.981624	B	0.29481	0.245	B	0.35182	0.197	T	0.70594	-0.4829	10	0.66056	D	0.02	-8.2184	6.1113	0.20102	0.0:0.5224:0.0:0.4776	.	308	Q6GMV2	SMYD5_HUMAN	L	308	ENSP00000374152:F308L	ENSP00000374152:F308L	F	+	3	2	SMYD5	73304623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.888000	0.28268	0.815000	0.34398	0.533000	0.62120	TTT	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318301.1		+	ENST00000389501.4	Missense_Mutation	SNP	2 : 73451115 - 73451115 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	830	98
SPDYA	245711	broad.mit.edu	37	2	29052132	29052132	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:29052132C>T	ENST00000334056.5	+	6	688	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	SPDYA_ENST00000379579.4_Missense_Mutation_p.L167F|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	167	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGGGACCAGCTCTGGGATAG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	69	68			NA	NA	2		NA											NA				29052132		2203	4300	6503	SO:0001583	missense			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806	245711	245711		Speedy homologs	30613	protein-coding gene	gene with protein product		614029	speedy homolog 1 (Drosophila), speedy homolog A (Xenopus laevis)	SPDY1	NA	11980914, 12839962, 15611625	Standard	NM_182756	NM_182756	NA	Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.499C>T	2.37:g.29052132C>T	ENSP00000335628:p.Leu167Phe	NA	Q53R05|Q5MJ69	37	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978601	0.53720	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.35	5.35	0.76521	.	0.096409	0.43579	U	0.000554	T	0.62295	0.2416	N	0.25031	0.7	0.58432	D	0.999999	D;D	0.67145	0.996;0.995	P;P	0.61477	0.889;0.823	T	0.59852	-0.7376	9	0.32370	T	0.25	0.5219	19.4215	0.94723	0.0:1.0:0.0:0.0	.	167;167	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	F	167	.	ENSP00000335628:L167F	L	+	1	0	SPDYA	28905636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.309000	0.59135	2.664000	0.90586	0.563000	0.77884	CTC	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157171.1		+	ENST00000334056.5	Missense_Mutation	SNP	2 : 29052132 - 29052132 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	362	9
SRGAP1	57522	broad.mit.edu	37	12	64536271	64536271	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:64536271G>A	ENST00000355086.3	+	22	3601	c.3077G>A	c.(3076-3078)cGt>cAt	p.R1026H	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1003H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R963H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1026					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGATTCGACGTAGCACGAGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	107	114			NA	NA	12		NA											NA				64536271		2203	4300	6503	SO:0001583	missense			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935	57522	57522		Rho GTPase activating proteins	17382	protein-coding gene	gene with protein product		606523			NA	11672528	Standard		NM_020762	NA	Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3077G>A	12.37:g.64536271G>A	ENSP00000347198:p.Arg1026His	NA	Q9H8A3|Q9P2P2	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412989	0.83449	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.34667	1.35;1.35;1.35	6.04	6.04	0.98038	.	0.000000	0.34002	U	0.004357	T	0.50667	0.1629	M	0.62723	1.935	0.80722	D	1	P;D	0.64830	0.757;0.994	B;P	0.51415	0.095;0.669	T	0.37220	-0.9715	9	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1026;963	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	1026;1003;963	ENSP00000347198:R1026H;ENSP00000350480:R1003H;ENSP00000437948:R963H	.	R	+	2	0	SRGAP1	62822538	1.000000	0.71417	0.527000	0.27925	0.080000	0.17528	6.584000	0.74057	2.873000	0.98535	0.563000	0.77884	CGT	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400896.1		+	ENST00000355086.3	Missense_Mutation	SNP	12 : 64536271 - 64536271 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	418	23
SRSF4	6429	broad.mit.edu	37	1	29476660	29476660	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:29476660C>T	ENST00000373795.4	-	5	857	c.623G>A	c.(622-624)aGt>aAt	p.S208N	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	208	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GCTGCTGCCACTTCGGCTTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	210	211			NA	NA	1		NA											NA				29476660		2203	4300	6503	SO:0001583	missense			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350	6429	6429		Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing	10786	protein-coding gene	gene with protein product	SR splicing factor 4	601940	splicing factor, arginine/serine-rich 4	SFRS4	NA	8321209, 20516191	Standard	NM_005626	NM_005626	NA	Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.623G>A	1.37:g.29476660C>T	ENSP00000362900:p.Ser208Asn	NA	Q5VXP1|Q9BUA4|Q9UEB5	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514077	0.64522	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.46819	0.86	5.36	5.36	0.76844	.	0.132141	0.85682	N	0.000000	T	0.61060	0.2317	M	0.67397	2.05	0.80722	D	1	D	0.64830	0.994	P	0.55055	0.767	T	0.61705	-0.7008	10	0.48119	T	0.1	.	16.6233	0.84935	0.0:1.0:0.0:0.0	.	208	Q08170	SRSF4_HUMAN	N	208	ENSP00000362900:S208N	ENSP00000362900:S208N	S	-	2	0	SRSF4	29349247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.735000	0.74806	2.668000	0.90789	0.650000	0.86243	AGT	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010392.1		-	ENST00000373795.4	Missense_Mutation	SNP	1 : 29476660 - 29476660 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	665	291
STAC3	246329	broad.mit.edu	37	12	57642585	57642585	+	Splice_Site	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57642585G>A	ENST00000332782.2	-	4	537	c.336C>T	c.(334-336)ctC>ctT	p.L112L	STAC3_ENST00000554578.1_Splice_Site_p.L73L|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	112					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACTTGTTGTTGACTTGGGAAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													266	238	247			NA	NA	12		NA											NA				57642585		2203	4300	6503	SO:0001630	splice_region_variant			AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482	246329	246329			28423	protein-coding gene	gene with protein product		615521			NA	12477932	Standard	NM_145064	NM_001286257	NA	Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.335-1C>T	12.37:g.57642585G>A		NA	Q96HU5	37	CCDS8936.1																																																																																			STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412724.2	Silent	-	ENST00000332782.2	Splice_Site	SNP	12 : 57642585 - 57642585 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	940	460
STK10	6793	broad.mit.edu	37	5	171510042	171510042	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:171510042G>A	ENST00000176763.5	-	11	2075	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	578							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGGTTCCGATGCTCTTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	105	106			NA	NA	5		NA											NA				171510042		2203	4300	6503	SO:0001583	missense			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786	6793	6793			11388	protein-coding gene	gene with protein product		603919			NA	10199912	Standard	NM_005990	NM_005990	NA	Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1732C>T	5.37:g.171510042G>A	ENSP00000176763:p.Arg578Trp	NA	A6ND35|B2R8F5|Q9UIW4	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048330	0.75846	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.74842	-0.88	5.22	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85652	0.5746	M	0.83223	2.63	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.86032	0.1514	10	0.87932	D	0	.	11.8661	0.52495	0.0:0.0:0.6632:0.3368	.	578	O94804	STK10_HUMAN	W	578	ENSP00000176763:R578W	ENSP00000176763:R578W	R	-	1	2	STK10	171442647	0.982000	0.34865	0.983000	0.44433	0.980000	0.70556	1.712000	0.37940	0.507000	0.28148	0.655000	0.94253	CGG	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372374.2		-	ENST00000176763.5	Missense_Mutation	SNP	5 : 171510042 - 171510042 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	498	23
STXBP5L	9515	broad.mit.edu	37	3	120957910	120957910	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:120957910T>C	ENST00000273666.6	+	13	1548	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	426					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCGGATTTGATTCTAGTACTG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	3		NA											NA				120957910		1834	4093	5927	SO:0001583	missense			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087	9515	9515		WD repeat domain containing	30757	protein-coding gene	gene with protein product		609381			NA	10231032, 14767561	Standard		NM_014980	NA	Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1277T>C	3.37:g.120957910T>C	ENSP00000273666:p.Ile426Thr	NA	Q4G1B4|Q6PIC3	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586545	0.46110	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.39229	1.78;1.78;1.58;1.09;1.58;1.79	4.97	4.97	0.65823	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	T	0.64381	-0.6421	10	0.59425	D	0.04	-30.5866	14.8108	0.69994	0.0:0.0:0.0:1.0	.	426;426	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	426	ENSP00000273666:I426T;ENSP00000420019:I426T;ENSP00000419627:I426T;ENSP00000420287:I426T;ENSP00000420666:I426T;ENSP00000420167:I426T	ENSP00000273666:I426T	I	+	2	0	STXBP5L	122440600	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	7.827000	0.86722	2.088000	0.63022	0.533000	0.62120	ATT	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355256.3		+	ENST00000273666.6	Missense_Mutation	SNP	3 : 120957910 - 120957910 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	238	8
SUGT1	10910	broad.mit.edu	37	13	53227075	53227075	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:53227075G>A	ENST00000310528.8	+	1	75	c.20G>A	c.(19-21)gGa>gAa	p.G7E	SUGT1_ENST00000343788.6_Missense_Mutation_p.G7E|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000483074.1_3'UTR			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	NA					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		gctgcagcagGAACTGCAACA	0.542		NA									OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	78	79			NA	NA	13		NA											NA				53227075		2203	4300	6503	SO:0001583	missense			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416	10910	10910			16987	protein-coding gene	gene with protein product		604098			NA	10445024	Standard		NM_006704	NA	Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000310528.8:c.20G>A	13.37:g.53227075G>A	ENSP00000308067:p.Gly7Glu	991	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	37	CCDS9436.1	.	.	.	.	.	.	.	.	.	.	G	8.714	0.912663	0.17907	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.22134	1.97;1.98	4.02	2.14	0.27477	.	0.421812	0.21072	N	0.080645	T	0.10252	0.0251	N	0.08118	0	0.27126	N	0.962025	P;B	0.37781	0.608;0.447	B;B	0.34824	0.131;0.19	T	0.14476	-1.0471	10	0.87932	D	0	-3.5695	10.3823	0.44119	0.0:0.3812:0.6188:0.0	.	7;7	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	E	7	ENSP00000367208:G7E;ENSP00000308067:G7E	ENSP00000308067:G7E	G	+	2	0	SUGT1	52125076	0.135000	0.22499	0.864000	0.33941	0.730000	0.41778	-0.029000	0.12329	0.873000	0.35799	0.467000	0.42956	GGA	SUGT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276380.2		+	ENST00000310528.8	Missense_Mutation	SNP	13 : 53227075 - 53227075 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	262	63
TACR2	6865	broad.mit.edu	37	10	71164771	71164771	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71164771G>C	ENST00000373306.4	-	5	1551	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L	TACR2_ENST00000373307.1_Silent_p.L124L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	336					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAGTCAGCTCGAGCTTATCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	132	139			NA	NA	10		NA											NA				71164771		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073	6865	6865		GPCR / Class A : Tachykinin receptors	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR	NA		Standard		NM_001057	NA	Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.1008C>G	10.37:g.71164771G>C		NA	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	37	CCDS7293.1																																																																																			TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048411.1		-	ENST00000373306.4	Silent	SNP	10 : 71164771 - 71164771 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	463	12
TACR3	6870	broad.mit.edu	37	4	104640521	104640521	+	Silent	SNP	G	G	C			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:104640521G>C	ENST00000304883.2	-	1	452	c.312C>G	c.(310-312)ctC>ctG	p.L104L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	104						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGATGACGATGAGATTTCCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	104	107			NA	NA	4		NA											NA				104640521		2203	4300	6503	SO:0001819	synonymous_variant			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836	6870	6870		GPCR / Class A : Tachykinin receptors	11528	protein-coding gene	gene with protein product	neurokinin beta receptor	162332			NA	1374246	Standard	NM_001059	NM_001059	NA	Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.312C>G	4.37:g.104640521G>C		NA	Q0P510	37	CCDS3664.1																																																																																			TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253804.1		-	ENST00000304883.2	Silent	SNP	4 : 104640521 - 104640521 C PAAD-TCGA-LB-A7SX-Tumor-SM-54379	475	27
TBC1D8B	54885	broad.mit.edu	37	X	106111641	106111641	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:106111641C>T	ENST00000357242.5	+	18	2921	c.2747C>T	c.(2746-2748)tCt>tTt	p.S916F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S910F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	916						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAGTGAAATCTAAGGATGCT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	77	80			NA	NA	X		NA											NA				106111641		2202	4299	6501	SO:0001583	missense			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138	54885	54885		EF-hand domain containing	24715	protein-coding gene	gene with protein product					NA	8889548	Standard	NM_017752	NM_017752	NA	Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2747C>T	X.37:g.106111641C>T	ENSP00000349781:p.Ser916Phe	NA	Q5JRB7|Q6ZVX5|Q9NXE3	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514460	0.27123	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	T;T	0.08720	3.06;3.06	5.88	2.91	0.33838	EF-hand-like domain (1);	0.641843	0.14963	N	0.288267	T	0.07818	0.0196	L	0.59436	1.845	0.25619	N	0.986428	B	0.15473	0.013	B	0.17979	0.02	T	0.47058	-0.9146	10	0.09338	T	0.73	1.5005	5.2383	0.15458	0.1503:0.6334:0.1307:0.0856	.	916	Q0IIM8	TBC8B_HUMAN	F	916;910;178	ENSP00000349781:S916F;ENSP00000276175:S910F	ENSP00000276175:S910F	S	+	2	0	TBC1D8B	105998297	0.551000	0.26497	0.029000	0.17559	0.958000	0.62258	1.060000	0.30530	0.140000	0.18849	0.600000	0.82982	TCT	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057807.2		+	ENST00000357242.5	Missense_Mutation	SNP	X : 106111641 - 106111641 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	258	11
THY1	7070	broad.mit.edu	37	11	119290857	119290857	+	Missense_Mutation	SNP	C	C	T	rs142564004		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119290857C>T	ENST00000284240.5	-	3	1316	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.A76T|THY1_ENST00000527590.1_5'UTR|THY1_ENST00000528522.1_Missense_Mutation_p.A93T|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000500970.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	93	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CTAGTGAAGGCGGATAAGTAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	1,4397	2.1+/-5.4	0,1,2198	275	215	235		277	-3.7	0	11	dbSNP_134	235	1,8589	1.2+/-3.3	0,1,4294	no	missense	THY1	NM_006288.3	58	0,2,6492	TT,TC,CC	NA	0.0116,0.0227,0.0154	benign	93/162	119290857	2,12986	2199	4295	6494	SO:0001583	missense			M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096	7070	7070		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	11801	protein-coding gene	gene with protein product		188230			NA	2864690	Standard	NM_006288	NM_006288	NA	Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.277G>A	11.37:g.119290857C>T	ENSP00000284240:p.Ala93Thr	NA	Q16008|Q9NSP1	37	CCDS8424.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945019	0.34283	2.27E-4	1.16E-4	ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524970;ENST00000524659	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.94	-3.71	0.04424	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.566810	0.03175	N	0.171259	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.25441	0.126	B	0.23275	0.045	T	0.28138	-1.0053	10	0.42905	T	0.14	-7.3332	7.1224	0.25453	0.1288:0.2015:0.0:0.6697	.	93	P04216	THY1_HUMAN	T	93	ENSP00000284240:A93T;ENSP00000431301:A93T;ENSP00000432808:A93T;ENSP00000435753:A93T	ENSP00000284240:A93T	A	-	1	0	THY1	118796067	0.000000	0.05858	0.028000	0.17463	0.953000	0.61014	-0.396000	0.07278	-0.677000	0.05231	0.591000	0.81541	GCC	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388370.2		-	ENST00000284240.5	Missense_Mutation	SNP	11 : 119290857 - 119290857 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	490	17
TMOD1	7111	broad.mit.edu	37	9	100315607	100315607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:100315607G>T	ENST00000259365.4	+	4	535	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	TMOD1_ENST00000395211.2_Nonsense_Mutation_p.E108*	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	NA	Tropomyosin-binding (Potential).				muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCCTGTGCTGGAAAGTGTGAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	109	114			NA	NA	9		NA											NA				100315607		2203	4300	6503	SO:0001587	stop_gained				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842	7111	7111			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD	NA	1370827, 8661028	Standard	NM_003275	NM_003275	NA	Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.322G>T	9.37:g.100315607G>T	ENSP00000259365:p.Glu108*	NA	B2RB77|Q9BUF1	37	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	38	6.812661	0.97857	.	.	ENSG00000136842	ENST00000395211;ENST00000259365	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.9265	18.6707	0.91510	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000259365:E108X	E	+	1	0	TMOD1	99355428	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	9.682000	0.98655	2.582000	0.87167	0.655000	0.94253	GAA	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053320.2		+	ENST00000259365.4	Nonsense_Mutation	SNP	9 : 100315607 - 100315607 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	350	6
TMPRSS15	5651	broad.mit.edu	37	21	19666604	19666604	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:19666604G>A	ENST00000284885.3	-	21	2502	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	823	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGCAGTGTGCGGCGGACACCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	60	60			NA	NA	21		NA											NA				19666604		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646	5651	5651		Serine peptidases / Transmembrane	9490	protein-coding gene	gene with protein product	proenterokinase, enteropeptidase	606635	protease, serine, 7 (enterokinase)	PRSS7	NA	8052624	Standard	NM_002772	NM_002772	NA	Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2469C>T	21.37:g.19666604G>A		NA	Q2NKL7	37	CCDS13571.1																																																																																			TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000158231.2		-	ENST00000284885.3	Silent	SNP	21 : 19666604 - 19666604 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	264	50
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132	118	123			NA	NA	17		NA											NA				7578212		2203	4300	6503	SO:0001587	stop_gained	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.637C>T	17.37:g.7578212G>A	ENSP00000391127:p.Arg213*	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	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7578212 - 7578212 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	216	103
TRAF3	7187	broad.mit.edu	37	14	103372120	103372120	+	Silent	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:103372120G>A	ENST00000560371.1	+	11	1923	c.1706G>A	c.(1705-1707)tGa>tAa	p.*569*	TRAF3_ENST00000392745.2_Silent_p.*569*|TRAF3_ENST00000347662.4_Silent_p.*544*|TRAF3_ENST00000539721.1_Silent_p.*486*|TRAF3_ENST00000351691.5_Silent_p.*544*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	0					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CCCGATCCCTGATAAGTAGCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	25	24			NA	NA	14		NA											NA				103372120		2146	4273	6419	SO:0001819	synonymous_variant			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323	7187	7187			12033	protein-coding gene	gene with protein product		601896			NA	7530216, 7859281	Standard	NM_145725	NM_145725	NA	Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1706G>A	14.37:g.103372120G>A		NA	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	37	CCDS9975.1																																																																																			TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415735.1		+	ENST00000560371.1	Silent	SNP	14 : 103372120 - 103372120 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	154	50
TRMT12	55039	broad.mit.edu	37	8	125463295	125463295	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:125463295T>G	ENST00000328599.3	+	1	248	c.127T>G	c.(127-129)Ttt>Gtt	p.F43V	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	43					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGAAACTCTTTGATACACA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	85	85			NA	NA	8		NA											NA				125463295		2203	4300	6503	SO:0001583	missense			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665	55039	55039			26091	protein-coding gene	gene with protein product	tRNA-yW synthesizing protein 2	611244	tRNA methyltranferase 12 homolog (S. cerevisiae)		NA	16005430, 17150819	Standard	NM_017956	NM_017956	NA	Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.127T>G	8.37:g.125463295T>G	ENSP00000329858:p.Phe43Val	NA	Q6PKB9|Q96F21|Q9NWK6	37	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.980463	0.34942	.	.	ENSG00000183665	ENST00000328599	T	0.40225	1.04	5.14	-3.63	0.04529	.	0.071623	0.56097	D	0.000028	T	0.17450	0.0419	N	0.08118	0	0.24462	N	0.994434	B	0.12630	0.006	B	0.06405	0.002	T	0.06303	-1.0834	10	0.66056	D	0.02	-6.7128	6.8676	0.24102	0.0:0.362:0.1226:0.5154	.	43	Q53H54	TYW2_HUMAN	V	43	ENSP00000329858:F43V	ENSP00000329858:F43V	F	+	1	0	TRMT12	125532476	0.057000	0.20700	0.842000	0.33263	0.587000	0.36485	-0.847000	0.04331	-0.876000	0.04017	-0.375000	0.07067	TTT	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381465.1		+	ENST00000328599.3	Missense_Mutation	SNP	8 : 125463295 - 125463295 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	353	6
TRO	7216	broad.mit.edu	37	X	54956406	54956406	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54956406C>T	ENST00000173898.7	+	12	3361	c.3249C>T	c.(3247-3249)gtC>gtT	p.V1083V	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.V614V|TRO_ENST00000375041.2_Silent_p.V686V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1083	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTGGTGCTGTCAGCACCAGTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	28	28			NA	NA	X		NA											NA				54956406		2049	4175	6224	SO:0001819	synonymous_variant			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445	7216	7216			12326	protein-coding gene	gene with protein product		300132			NA	9533028, 11454705	Standard	NM_016157	NM_001039705	NA	Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3249C>T	X.37:g.54956406C>T		NA	Q9NU89|Q9UPN8	37	CCDS43959.1																																																																																			TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056837.3		+	ENST00000173898.7	Silent	SNP	X : 54956406 - 54956406 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	261	10
VIT	5212	broad.mit.edu	37	2	36970392	36970392	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:36970392G>A	ENST00000404084.1	+	3	368	c.202G>A	c.(202-204)Gta>Ata	p.V68I	VIT_ENST00000457137.2_Missense_Mutation_p.V90I|VIT_ENST00000379242.3_Missense_Mutation_p.V90I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.V90I|VIT_ENST00000389975.3_Missense_Mutation_p.V90I|VIT_ENST00000379241.3_Missense_Mutation_p.V90I			Q6UXI7	VITRN_HUMAN	vitrin	90	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGCGCTGCCGTACACAGGTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	80	84			NA	NA	2		NA											NA				36970392		2203	4300	6503	SO:0001583	missense			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221	5212	5212			12697	protein-coding gene	gene with protein product					NA		Standard		NM_001177969	NA	Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000404084.1:c.202G>A	2.37:g.36970392G>A	ENSP00000384154:p.Val68Ile	NA	A6NKI9|A8K7Y4|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	37		.	.	.	.	.	.	.	.	.	.	G	0.015	-1.546624	0.00926	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.78	1.91	0.25777	LCCL (5);	0.243987	0.39407	N	0.001370	T	0.55641	0.1933	N	0.00690	-1.25	0.23478	N	0.997592	B;B;B;B;B;B	0.20052	0.027;0.005;0.041;0.005;0.007;0.012	B;B;B;B;B;B	0.16289	0.011;0.015;0.005;0.015;0.009;0.011	T	0.55817	-0.8081	10	0.06099	T	0.92	-8.7759	6.0137	0.19589	0.4398:0.0:0.5602:0.0	.	90;90;90;90;90;90	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	I	90;90;90;90;68;90;90	ENSP00000368544:V90I;ENSP00000374625:V90I;ENSP00000393561:V90I;ENSP00000384154:V68I;ENSP00000368543:V90I;ENSP00000385658:V90I	ENSP00000368543:V90I	V	+	1	0	VIT	36823896	0.991000	0.36638	0.027000	0.17364	0.009000	0.06853	2.641000	0.46587	0.528000	0.28580	0.655000	0.94253	GTA	VIT-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000325453.1		+	ENST00000404084.1	Missense_Mutation	SNP	2 : 36970392 - 36970392 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	328	5
WIF1	11197	broad.mit.edu	37	12	65471603	65471603	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:65471603C>G	ENST00000286574.4	-	3	694	c.320G>C	c.(319-321)cGc>cCc	p.R107P		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	107	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATCCAGGGAGCGCAAGGACAG	0.498		NA	T	HMGA2	pleomorphic salivary gland adenoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(148;1595 1816 48559 49439 49664)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													120	101	108			NA	NA	12		NA											NA				65471603		2203	4300	6503	SO:0001583	missense			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076	11197	11197			18081	protein-coding gene	gene with protein product		605186			NA	10201374	Standard		NM_007191	NA	Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.320G>C	12.37:g.65471603C>G	ENSP00000286574:p.Arg107Pro	NA	Q6UXI1|Q8WVG4	37	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383858	0.82792	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.45276	0.9;0.9	5.35	5.35	0.76521	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.63283	0.913	T	0.37407	-0.9707	9	.	.	.	.	14.6498	0.68789	0.0:0.928:0.0:0.072	.	107	Q9Y5W5	WIF1_HUMAN	P	107;45	ENSP00000286574:R107P;ENSP00000442063:R45P	.	R	-	2	0	WIF1	63757870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.581000	0.46077	2.689000	0.91719	0.650000	0.86243	CGC	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401258.2		-	ENST00000286574.4	Missense_Mutation	SNP	12 : 65471603 - 65471603 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	148	67
XPNPEP1	7511	broad.mit.edu	37	10	111635301	111635301	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:111635301G>A	ENST00000502935.1	-	15	1495	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.S416L|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S345L|XPNPEP1_ENST00000322238.8_Intron			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	416					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTGAGCACCCGAGTCAATAAG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	100	108			NA	NA	10		NA											NA				111635301		2203	4300	6503	SO:0001583	missense				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	7511	7511	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	X-prolyl aminopeptidase (aminopeptidase P)-like	XPNPEP, XPNPEPL1, XPNPEPL	NA		Standard		NM_020383	NA	Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1376C>T	10.37:g.111635301G>A	ENSP00000421566:p.Ser459Leu	NA	O15250|Q53EX6|Q8N3Q0|Q96D23	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	G	31	5.070360	0.93950	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000369680	T;T;T	0.74737	-0.87;-0.87;-0.87	5.43	5.43	0.79202	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90341	0.4359	10	0.87932	D	0	-11.0405	17.7889	0.88547	0.0:0.0:1.0:0.0	.	416	Q9NQW7	XPP1_HUMAN	L	459;345;416	ENSP00000421566:S459L;ENSP00000358697:S345L;ENSP00000358694:S416L	ENSP00000358694:S416L	S	-	2	0	XPNPEP1	111625291	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	9.101000	0.94219	2.698000	0.92095	0.655000	0.94253	TCG	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050264.2		-	ENST00000502935.1	Missense_Mutation	SNP	10 : 111635301 - 111635301 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	255	11
XPR1	9213	broad.mit.edu	37	1	180793903	180793903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:180793903G>T	ENST00000367590.4	+	8	976	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	XPR1_ENST00000367589.3_Nonsense_Mutation_p.E260*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	260						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATTTAAACTTGAAACAGATAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	87	85			NA	NA	1		NA											NA				180793903		2201	4298	6499	SO:0001587	stop_gained			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324	9213	9213			12827	protein-coding gene	gene with protein product		605237	xenotropic and polytropic retrovirus receptor		NA	9990033	Standard	NM_004736	NM_004736	NA	Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.778G>T	1.37:g.180793903G>T	ENSP00000356562:p.Glu260*	NA	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511924	0.96402	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	.	.	.	5.3	4.33	0.51752	.	0.675652	0.14013	N	0.347315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-5.9541	4.9217	0.13872	0.0811:0.1489:0.6162:0.1538	.	.	.	.	X	260	.	ENSP00000356561:E260X	E	+	1	0	XPR1	179060526	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.435000	0.44811	2.489000	0.83994	0.650000	0.86243	GAA	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084996.2		+	ENST00000367590.4	Nonsense_Mutation	SNP	1 : 180793903 - 180793903 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	454	113
XRN1	54464	broad.mit.edu	37	3	142142485	142142485	+	Splice_Site	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:142142485C>T	ENST00000264951.4	-	6	745		c.e6-1		XRN1_ENST00000392981.2_Splice_Site|XRN1_ENST00000463916.1_Splice_Site|XRN1_ENST00000544157.1_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	NA					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CAAGCATAATCTGTTGAAAAA	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	77	78			NA	NA	3		NA											NA				142142485		2200	4300	6500	SO:0001630	splice_region_variant			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127	54464	54464			30654	protein-coding gene	gene with protein product		607994			NA	12515382	Standard	NM_019001	XM_005247544	NA	Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.628-1G>A	3.37:g.142142485C>T		NA	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363755	0.82353	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000477237	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4475	0.94854	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRN1	143625175	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.568000	0.82369	2.609000	0.88269	0.460000	0.39030	.	XRN1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354087.2	Intron	-	ENST00000264951.4	Splice_Site	SNP	3 : 142142485 - 142142485 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	302	60
XYLT1	64131	broad.mit.edu	37	16	17353277	17353277	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:17353277C>G	ENST00000261381.6	-	3	565	c.481G>C	c.(481-483)Gag>Cag	p.E161Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	161					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGACATTCTCAAAGTCTTTG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	126	130			NA	NA	16		NA											NA				17353277		2197	4300	6497	SO:0001583	missense			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	64131	64131	2.4.2.26	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	15516	protein-coding gene	gene with protein product	protein xylosyltransferase 1	608124			NA	11099377	Standard	NM_022166	NM_022166	NA	Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.481G>C	16.37:g.17353277C>G	ENSP00000261381:p.Glu161Gln	NA	Q9H1B6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171543	0.94807	.	.	ENSG00000103489	ENST00000261381	T	0.07688	3.17	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.60236	0.871	T	0.00045	-1.2218	10	0.66056	D	0.02	-38.7384	18.8353	0.92159	0.0:1.0:0.0:0.0	.	161	Q86Y38	XYLT1_HUMAN	Q	161	ENSP00000261381:E161Q	ENSP00000261381:E161Q	E	-	1	0	XYLT1	17260778	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.328000	0.79160	2.688000	0.91661	0.655000	0.94253	GAG	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252241.2		-	ENST00000261381.6	Missense_Mutation	SNP	16 : 17353277 - 17353277 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	666	158
ZBED4	9889	broad.mit.edu	37	22	50279764	50279764	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:50279764C>T	ENST00000216268.5	+	2	2931	c.2454C>T	c.(2452-2454)aaC>aaT	p.N818N		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	NA						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGACGCTGAACGAGGGGGAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	38	38			NA	NA	22		NA											NA				50279764		2203	4299	6502	SO:0001819	synonymous_variant			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426	9889	9889		Zinc fingers, BED-type	20721	protein-coding gene	gene with protein product		612552			NA	23533661	Standard	NM_014838	NM_014838	NA	Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2454C>T	22.37:g.50279764C>T		NA	B2RZH1|Q1ECU0|Q9UGG8	37	CCDS33677.1																																																																																			ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317408.2		+	ENST00000216268.5	Silent	SNP	22 : 50279764 - 50279764 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	203	9
ZDHHC11	79844	broad.mit.edu	37	5	837564	837564	+	Silent	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:837564G>T	ENST00000283441.8	-	6	1199	c.816C>A	c.(814-816)ctC>ctA	p.L272L	ZDHHC11_ENST00000424784.2_Silent_p.L272L|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	272						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTTATTAATGAGATACTCAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	199	189			NA	NA	5		NA											NA				837564		2203	4300	6503	SO:0001819	synonymous_variant			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818	79844	79844		Zinc fingers, DHHC-type	19158	protein-coding gene	gene with protein product					NA		Standard	NM_024786	NM_024786	NA	Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.816C>A	5.37:g.837564G>T		NA		37	CCDS3857.1																																																																																			ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206681.3		-	ENST00000283441.8	Silent	SNP	5 : 837564 - 837564 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	941	16
ZFP28	140612	broad.mit.edu	37	19	57051065	57051065	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:57051065G>A	ENST00000301318.3	+	2	351	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ZFP28_ENST00000594386.1_3'UTR|ZFP28_ENST00000591844.1_Missense_Mutation_p.E94K	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GACAGGAATTGAACCTAAAGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(124;554 1662 19430 21141 52494)							NA				0													107	105	106			NA	NA	19		NA											NA				57051065		2203	4300	6503	SO:0001583	missense				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867	140612	140612		Zinc fingers, C2H2-type, -	17801	protein-coding gene	gene with protein product			zinc finger protein 28 homolog (mouse)		NA		Standard	NM_020828	NM_020828	NA	Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.280G>A	19.37:g.57051065G>A	ENSP00000301318:p.Glu94Lys	NA	A0JNV6|Q9BY30|Q9P2B6	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.927546	0.00493	.	.	ENSG00000196867	ENST00000301318	T	0.04862	3.54	3.15	-2.26	0.06867	.	1.302900	0.05857	N	0.622289	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.42378	-0.9455	10	0.06236	T	0.91	.	3.6521	0.08208	0.4893:0.2061:0.3046:0.0	.	94;94	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	K	94	ENSP00000301318:E94K	ENSP00000301318:E94K	E	+	1	0	ZFP28	61742877	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.068000	0.11561	-0.378000	0.07918	0.462000	0.41574	GAA	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458409.1		+	ENST00000301318.3	Missense_Mutation	SNP	19 : 57051065 - 57051065 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	266	10
ZFYVE26	23503	broad.mit.edu	37	14	68275942	68275942	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:68275942C>G	ENST00000347230.4	-	4	476	c.338G>C	c.(337-339)gGt>gCt	p.G113A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G113A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	113					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGAATGTCACCTTGGAGGTC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	116	117			NA	NA	14		NA											NA				68275942		2203	4300	6503	SO:0001583	missense			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121	23503	23503		Zinc fingers, FYVE domain containing	20761	protein-coding gene	gene with protein product	spastizin, FYVE-CENT	612012	spastic paraplegia 15 (complicated, autosomal recessive)	SPG15	NA	9205841, 18394578	Standard	NM_015346	NM_015346	NA	Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.338G>C	14.37:g.68275942C>G	ENSP00000251119:p.Gly113Ala	NA	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036094	0.19590	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26373	1.89;1.74	6.06	1.78	0.24846	.	0.933364	0.09213	N	0.832992	T	0.17831	0.0428	L	0.44542	1.39	0.09310	N	1	B;B;B	0.27068	0.065;0.167;0.022	B;B;B	0.24269	0.036;0.052;0.006	T	0.34279	-0.9835	10	0.09084	T	0.74	-5.0E-4	6.2815	0.21009	0.0:0.5186:0.0:0.4814	.	113;113;113	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	A	113	ENSP00000251119:G113A;ENSP00000450603:G113A	ENSP00000251119:G113A	G	-	2	0	ZFYVE26	67345695	0.064000	0.20934	0.854000	0.33618	0.991000	0.79684	1.535000	0.36061	0.457000	0.26962	0.655000	0.94253	GGT	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412736.2		-	ENST00000347230.4	Missense_Mutation	SNP	14 : 68275942 - 68275942 G PAAD-TCGA-LB-A7SX-Tumor-SM-54379	406	13
ZNF217	7764	broad.mit.edu	37	20	52192921	52192921	+	Silent	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:52192921C>T	ENST00000371471.2	-	4	2807	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	ZNF217_ENST00000302342.3_Silent_p.Q794Q			O75362	ZN217_HUMAN	zinc finger protein 217	794					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGGAGGGCTCTGCTTCCCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	20		NA											NA				52192921		2203	4300	6503	SO:0001819	synonymous_variant			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940	7764	7764		Zinc fingers, C2H2-type	13009	protein-coding gene	gene with protein product		602967			NA	9671742	Standard	NM_006526	NM_006526	NA	Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2382G>A	20.37:g.52192921C>T		NA	E1P5Y6|Q14DB8	37	CCDS13443.1																																																																																			ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079757.2		-	ENST00000371471.2	Silent	SNP	20 : 52192921 - 52192921 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	494	150
ZNF512B	57473	broad.mit.edu	37	20	62626750	62626750	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:62626750G>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.G229E			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGACGCCAGGACTGATGACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	97	105			NA	NA	20		NA											NA				62626750		2203	4300	6503	SO:0001627	intron_variant			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700	57473	57473			29212	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_020713	NM_020713	NA	Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-27442C>T	20.37:g.62626750G>A		NA	Q08AK9|Q9ULM4	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754691	0.89843	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.78816	-1.19;-1.21	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.85575	0.5728	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	D	0.86768	0.1971	10	0.66056	D	0.02	.	18.533	0.90999	0.0:0.0:1.0:0.0	.	229;229	O94906-2;O94906	.;PRP6_HUMAN	E	229	ENSP00000266079:G229E;ENSP00000446216:G229E	ENSP00000266079:G229E	G	+	2	0	PRPF6	62097194	1.000000	0.71417	0.697000	0.30258	0.995000	0.86356	8.532000	0.90613	2.382000	0.81193	0.650000	0.86243	GGA	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080246.1		-	ENST00000450537.1	Intron	SNP	20 : 62626750 - 62626750 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	167	85
ZNF521	25925	broad.mit.edu	37	18	22804704	22804704	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:22804704G>T	ENST00000361524.3	-	4	3326	c.3178C>A	c.(3178-3180)Cac>Aac	p.H1060N	ZNF521_ENST00000584787.1_Missense_Mutation_p.H840N|ZNF521_ENST00000538137.2_Missense_Mutation_p.H1060N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1060					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTTGGACGTGCTGGCCCCGC	0.502		NA	T	PAX5	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													75	61	65			NA	NA	18		NA											NA				22804704		2203	4300	6503	SO:0001583	missense			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795	25925	25925		Zinc fingers, C2H2-type	24605	protein-coding gene	gene with protein product	early hematopoietic zinc finger	610974			NA	11984006, 14630787	Standard	NM_015461	NM_015461	NA	Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3178C>A	18.37:g.22804704G>T	ENSP00000354794:p.His1060Asn	NA	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112986	0.20795	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07800	3.18;3.16	5.98	5.98	0.97165	.	0.156557	0.56097	D	0.000023	T	0.05227	0.0139	N	0.08118	0	0.36885	D	0.889578	B	0.02656	0.0	B	0.04013	0.001	T	0.47573	-0.9107	10	0.20519	T	0.43	-31.416	15.2044	0.73165	0.0:0.0:0.8593:0.1407	.	1060	Q96K83	ZN521_HUMAN	N	1060;1094;1060	ENSP00000354794:H1060N;ENSP00000382352:H1060N	ENSP00000354794:H1060N	H	-	1	0	ZNF521	21058702	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.500000	0.81588	2.835000	0.97688	0.650000	0.86243	CAC	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446781.2		-	ENST00000361524.3	Missense_Mutation	SNP	18 : 22804704 - 22804704 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	347	16
ZNF606	80095	broad.mit.edu	37	19	58490523	58490523	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:58490523C>T	ENST00000341164.4	-	7	2145	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	ZNF606_ENST00000536132.1_Missense_Mutation_p.E419K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAAGGTTTCTCTCCTGTATGA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	48	48			NA	NA	19		NA											NA				58490523		2203	4300	6503	SO:0001583	missense			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704	80095	80095		Zinc fingers, C2H2-type, -	25879	protein-coding gene	gene with protein product		613905		ZNF328	NA	11347906	Standard	NM_025027	XM_005259276	NA	Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1525G>A	19.37:g.58490523C>T	ENSP00000343617:p.Glu509Lys	NA	A8KAN2|Q8NE04|Q96JH5	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343802	0.61073	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.24350	1.86;1.86	4.41	4.41	0.53225	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000271	T	0.37265	0.0997	L	0.37630	1.12	0.53688	D	0.999973	D	0.60575	0.988	D	0.63793	0.918	T	0.13282	-1.0515	10	0.87932	D	0	.	12.7365	0.57228	0.0:0.833:0.167:0.0	.	509	Q8WXB4	ZN606_HUMAN	K	509;419	ENSP00000343617:E509K;ENSP00000445624:E419K	ENSP00000343617:E509K	E	-	1	0	ZNF606	63182335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.550000	0.60733	2.446000	0.82766	0.561000	0.74099	GAG	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405961.1		-	ENST00000341164.4	Missense_Mutation	SNP	19 : 58490523 - 58490523 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	278	8
ZNF645	158506	broad.mit.edu	37	X	22292031	22292031	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:22292031C>T	ENST00000323684.1	+	1	967	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	308	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ACTCCTAACTCGGTTCGTAGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	104	115			NA	NA	X		NA											NA				22292031		2203	4300	6503	SO:0001583	missense			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809	158506	158506			26371	protein-coding gene	gene with protein product					NA		Standard	NM_152577	NM_152577	NA	Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.923C>T	X.37:g.22292031C>T	ENSP00000323348:p.Ser308Leu	NA	A0AV29|A0AV31|Q6DJY9	37	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.552333	0.00918	.	.	ENSG00000175809	ENST00000323684	T	0.30182	1.54	2.42	-1.52	0.08637	.	0.974552	0.08262	N	0.972933	T	0.07773	0.0195	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34800	-0.9814	10	0.07030	T	0.85	.	6.635	0.22877	0.0:0.4115:0.0:0.5885	.	308	Q8N7E2	ZN645_HUMAN	L	308	ENSP00000323348:S308L	ENSP00000323348:S308L	S	+	2	0	ZNF645	22201952	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	2.686000	0.46968	-0.498000	0.06632	-0.366000	0.07423	TCG	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056037.1		+	ENST00000323684.1	Missense_Mutation	SNP	X : 22292031 - 22292031 T PAAD-TCGA-LB-A7SX-Tumor-SM-54379	631	26
ZNF827	152485	broad.mit.edu	37	4	146770591	146770591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146770591G>A	ENST00000508784.1	-	6	2331	c.2104C>T	c.(2104-2106)Cga>Tga	p.R702*	ZNF827_ENST00000513320.1_Nonsense_Mutation_p.R352*|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.R702*			Q17R98	ZN827_HUMAN	zinc finger protein 827	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R702*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTTTTCTCTCGCCCGATTAAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Nonsense(2)	large_intestine(2)											130	135	133			NA	NA	4		NA											NA				146770591		2203	4300	6503	SO:0001587	stop_gained			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612	152485	152485		Zinc fingers, C2H2-type	27193	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178835	NM_178835	NA	Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2104C>T	4.37:g.146770591G>A	ENSP00000421863:p.Arg702*	NA	B7ZL52|Q7Z4S7|Q8N279	37		.	.	.	.	.	.	.	.	.	.	G	40	8.450699	0.98817	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	.	.	.	5.7	4.86	0.63082	.	0.167131	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-6.9996	14.7328	0.69393	0.0695:0.0:0.9305:0.0	.	.	.	.	X	702;352;702;701;352	.	ENSP00000281318:R701X	R	-	1	2	ZNF827	146990041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.524000	0.45589	1.410000	0.46936	0.655000	0.94253	CGA	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000364654.2		-	ENST00000508784.1	Nonsense_Mutation	SNP	4 : 146770591 - 146770591 A PAAD-TCGA-LB-A7SX-Tumor-SM-54379	602	8
