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
ANKRD55	79722	broad.mit.edu	37	5	55407377	55407377	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:55407377G>T	ENST00000341048.4	-	10	1349	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.Q112K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.Q357K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	399										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATAGCCACCTGATCACCAGGC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													243	234	237			NA	NA	5		NA											NA				55407377		2203	4300	6503	SO:0001583	missense			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512	79722	79722		Ankyrin repeat domain containing	25681	protein-coding gene	gene with protein product		615189			NA		Standard	NM_024669	XM_005248599	NA	Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1198C>A	5.37:g.55407377G>T	ENSP00000342295:p.Gln400Lys	NA	Q3KP45|Q9HAD3	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	6.645	0.487476	0.12641	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.38077	1.4;1.16;1.54	5.45	4.53	0.55603	.	0.406223	0.23720	N	0.045230	T	0.20088	0.0483	N	0.24115	0.695	0.09310	N	1	B;P	0.35844	0.146;0.524	B;B	0.28849	0.038;0.095	T	0.11012	-1.0605	10	0.26408	T	0.33	.	9.4516	0.38729	0.0744:0.0:0.6652:0.2604	.	400;399	B3KVT8;Q3KP44	.;ANR55_HUMAN	K	400;400;357;112	ENSP00000342295:Q400K;ENSP00000424230:Q357K;ENSP00000429421:Q112K	ENSP00000342295:Q400K	Q	-	1	0	ANKRD55	55443134	0.002000	0.14202	0.997000	0.53966	0.997000	0.91878	0.633000	0.24598	2.723000	0.93209	0.650000	0.86243	CAG	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368510.4		-	ENST00000341048.4	Missense_Mutation	SNP	5 : 55407377 - 55407377 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	940	11
CELF3	11189	broad.mit.edu	37	1	151681757	151681757	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:151681757A>C	ENST00000290583.4	-	4	1138	c.345T>G	c.(343-345)ttT>ttG	p.F115L	CELF3_ENST00000290585.4_Missense_Mutation_p.F115L|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	115	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CGAAGGGCTCAAACATCTTCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	211	216			NA	NA	1		NA											NA				151681757		2203	4300	6503	SO:0001583	missense			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409	11189	11189		Trinucleotide (CAG) repeat containing, RNA binding motif (RRM) containing	11967	protein-coding gene	gene with protein product	expanded repeat domain, CAG/CTG 4, CAG repeat domain, CUG-BP and ETR-3 like factor 3	612678	trinucleotide repeat containing 4	TNRC4	NA	9225980	Standard	NM_007185	XM_005244859	NA	Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.345T>G	1.37:g.151681757A>C	ENSP00000290583:p.Phe115Leu	NA	B7ZKK6|O15414|Q499Y6|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	37	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.12|18.12	3.553835|3.553835	0.65425|0.65425	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000368833|ENST00000420342	T;T|.	0.43294|.	0.95;0.95|.	4.39|4.39	-2.57|-2.57	0.06248|0.06248	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60521|0.60521	0.2275|0.2275	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.76494|.	0.977;0.945;0.999;0.985;0.981|.	D;P;D;P;P|.	0.87578|.	0.962;0.7;0.998;0.843;0.756|.	T|T	0.67345|0.67345	-0.5694|-0.5694	10|5	0.66056|.	D|.	0.02|.	-8.3106|-8.3106	9.4317|9.4317	0.38615|0.38615	0.5746:0.0:0.4254:0.0|0.5746:0.0:0.4254:0.0	.|.	115;115;114;115;114|.	Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3|.	.;.;.;CELF3_HUMAN;.|.	L|W	115;115;114|116	ENSP00000290585:F115L;ENSP00000290583:F115L|.	ENSP00000290583:F115L|.	F|L	-|-	3|2	2|0	CELF3|CELF3	149948381|149948381	0.649000|0.649000	0.27322|0.27322	0.994000|0.994000	0.49952|0.49952	0.570000|0.570000	0.35934|0.35934	-0.097000|-0.097000	0.11042|0.11042	-0.328000|-0.328000	0.08539|0.08539	-0.624000|-0.624000	0.04008|0.04008	TTT|TTG	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036663.2		-	ENST00000290583.4	Missense_Mutation	SNP	1 : 151681757 - 151681757 C PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1460	121
CELSR2	1952	broad.mit.edu	37	1	109812124	109812124	+	Silent	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:109812124C>T	ENST00000271332.3	+	21	6952	c.6891C>T	c.(6889-6891)gcC>gcT	p.A2297A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2297					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCCCGGGCCCTGGACAAAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(158;1285 2011 34800 34852 42084)							NA				0													70	65	67			NA	NA	1		NA											NA				109812124		2203	4300	6503	SO:0001819	synonymous_variant			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6891C>T	1.37:g.109812124C>T		NA	Q5T2Y7|Q92566	37	CCDS796.1																																																																																			CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Silent	SNP	1 : 109812124 - 109812124 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	207	66
CEP192	55125	broad.mit.edu	37	18	13100331	13100331	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:13100331G>T	ENST00000506447.1	+	38	6771	c.6691G>T	c.(6691-6693)Gat>Tat	p.D2231Y	CEP192_ENST00000430049.2_Missense_Mutation_p.D1756Y|CEP192_ENST00000325971.8_Missense_Mutation_p.D1635Y|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1826										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AATTCGAGAAGATTTAACTCA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	56	57			NA	NA	18		NA											NA				13100331		2203	4300	6503	SO:0001583	missense			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639	55125	55125		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	25515	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 62				NA	11230166, 14654843	Standard	NM_032142	NM_032142	NA	Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000506447.1:c.6691G>T	18.37:g.13100331G>T	ENSP00000427550:p.Asp2231Tyr	NA		37	CCDS32792.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101103	0.76983	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.08458	3.09;3.09;3.1	5.52	5.52	0.82312	.	0.109070	0.64402	D	0.000005	T	0.29458	0.0734	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.991;0.988;0.995	T	0.00337	-1.1807	10	0.87932	D	0	-25.0451	18.5764	0.91157	0.0:0.0:1.0:0.0	.	1756;2231;235;833	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	Y	2231;1635;1635;1756;235	ENSP00000427550:D2231Y;ENSP00000317156:D1635Y;ENSP00000389190:D1756Y	ENSP00000317156:D1635Y	D	+	1	0	CEP192	13090331	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.233000	0.58651	2.756000	0.94617	0.655000	0.94253	GAT	CEP192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361790.1		+	ENST00000506447.1	Missense_Mutation	SNP	18 : 13100331 - 13100331 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	380	9
CHIT1	1118	broad.mit.edu	37	1	203194202	203194202	+	Silent	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:203194202G>A	ENST00000367229.1	-	4	322	c.288C>T	c.(286-288)atC>atT	p.I96I	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Intron|CHIT1_ENST00000255427.3_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	96					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCAGCCTCCGATGGCTAACA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	67	69			NA	NA	1		NA											NA				203194202		2203	4300	6503	SO:0001819	synonymous_variant			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063	1118	1118			1936	protein-coding gene	gene with protein product		600031			NA	9748235, 9492324	Standard	NM_003465	NM_003465	NA	Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.288C>T	1.37:g.203194202G>A		NA	Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	37	CCDS1436.1																																																																																			CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100275.2		-	ENST00000367229.1	Silent	SNP	1 : 203194202 - 203194202 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	329	68
CLSTN3	9746	broad.mit.edu	37	12	7301731	7301731	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:7301731C>A	ENST00000537408.1	+	12	2585	c.2047C>A	c.(2047-2049)Caa>Aaa	p.Q683K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q671K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	671					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCTGATCTTCAAATCACCTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	58	61			NA	NA	12		NA											NA				7301731		2203	4300	6503	SO:0001583	missense			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182	9746	9746		Cadherins / Cadherin-related	18371	protein-coding gene	gene with protein product	cadherin-related family member 14	611324			NA	12498782	Standard	NM_014718	NM_014718	NA	Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000537408.1:c.2047C>A	12.37:g.7301731C>A	ENSP00000440679:p.Gln683Lys	NA	D3DUT6|O94831|Q2T9J5	37		.	.	.	.	.	.	.	.	.	.	C	12.46	1.945190	0.34283	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.36699	1.24;1.24	5.71	5.71	0.89125	.	0.121175	0.56097	D	0.000022	T	0.18299	0.0439	N	0.04959	-0.14	0.46901	D	0.999246	B;B	0.12013	0.005;0.002	B;B	0.09377	0.002;0.004	T	0.12477	-1.0546	10	0.09590	T	0.72	-14.034	14.6704	0.68939	0.1452:0.8548:0.0:0.0	.	683;671	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	671;683	ENSP00000266546:Q671K;ENSP00000440679:Q683K	ENSP00000266546:Q671K	Q	+	1	0	CLSTN3	7192998	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.959000	0.49153	2.698000	0.92095	0.561000	0.74099	CAA	CLSTN3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000398561.1		+	ENST00000537408.1	Missense_Mutation	SNP	12 : 7301731 - 7301731 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	209	20
COL27A1	85301	broad.mit.edu	37	9	116930332	116930332	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:116930332G>A	ENST00000356083.3	+	3	888	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	166	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCCGAGGCCGCACAGTCACT	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	20	20			NA	NA	9		NA											NA				116930332		2199	4287	6486	SO:0001583	missense			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739	85301	85301		Collagens	22986	protein-coding gene	gene with protein product		608461			NA	12766169	Standard	NM_032888	NM_032888	NA	Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.497G>A	9.37:g.116930332G>A	ENSP00000348385:p.Arg166His	NA	Q66K43|Q96JF7	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	7.648	0.682203	0.14907	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02177	4.41;4.41	5.12	1.8	0.24995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.02267	0.0070	L	0.39397	1.21	0.29313	N	0.867892	B;B	0.22003	0.063;0.022	B;B	0.14023	0.01;0.004	T	0.34925	-0.9809	9	0.27785	T	0.31	.	7.4557	0.27266	0.392:0.0:0.6079:0.0	.	166;113	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	H	166;166;113;113	ENSP00000348385:R166H;ENSP00000391328:R113H	ENSP00000348385:R166H	R	+	2	0	COL27A1	115970153	0.996000	0.38824	0.960000	0.40013	0.391000	0.30476	2.880000	0.48530	0.549000	0.28973	-0.263000	0.10527	CGC	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053763.1		+	ENST00000356083.3	Missense_Mutation	SNP	9 : 116930332 - 116930332 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	204	6
CPEB3	22849	broad.mit.edu	37	10	93870858	93870858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:93870858G>T	ENST00000412050.4	-	7	1593	c.1505C>A	c.(1504-1506)tCa>tAa	p.S502*	CPEB3_ENST00000265997.4_Nonsense_Mutation_p.S516*	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	516	RRM 1.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGTGGGGCTTGACACACACAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	155	160			NA	NA	10		NA											NA				93870858		2203	4300	6503	SO:0001587	stop_gained			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864	22849	22849		RNA binding motif (RRM) containing	21746	protein-coding gene	gene with protein product		610606			NA	10231032, 12672660	Standard	NM_014912	NM_014912	NA	Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000412050.4:c.1505C>A	10.37:g.93870858G>T	ENSP00000398310:p.Ser502*	NA	Q5T389|Q9NQJ7|Q9Y2E9	37	CCDS53553.1	.	.	.	.	.	.	.	.	.	.	G	40	7.971917	0.98588	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.285	19.8057	0.96531	0.0:0.0:1.0:0.0	.	.	.	.	X	502;502;516	.	ENSP00000265997:S516X	S	-	2	0	CPEB3	93860838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.682000	0.91365	0.655000	0.94253	TCA	CPEB3-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049386.2		-	ENST00000412050.4	Nonsense_Mutation	SNP	10 : 93870858 - 93870858 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	625	11
DCTN1	1639	broad.mit.edu	37	2	74597120	74597120	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:74597120C>T	ENST00000361874.3	-	13	1681	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	DCTN1_ENST00000394003.3_Missense_Mutation_p.R448H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R321H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R321H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R435H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R418H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R438H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	455					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTCAACTCGCGCACTTTCTC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	133	142			NA	NA	2		NA											NA				74597120		2203	4300	6503	SO:0001583	missense				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843	1639	1639			2711	protein-coding gene	gene with protein product	p150 glued homolog (Drosophila)	601143	dynactin 1 (p150, Glued (Drosophila) homolog)		NA	1828535	Standard	NM_004082	NM_001190836	NA	Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1364G>A	2.37:g.74597120C>T	ENSP00000354791:p.Arg455His	NA	O95296|Q9BRM9|Q9UIU1|Q9UIU2	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327848	0.95733	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78707	-1.09;-1.09;-1.09;-1.09;-1.09;-1.2;-1.09	5.65	5.65	0.86999	.	0.000000	0.39615	N	0.001313	D	0.86062	0.5843	L	0.55834	1.745	0.80722	D	1	P;D;D;P;P;D	0.76494	0.745;0.999;0.999;0.522;0.678;0.999	B;P;D;B;B;D	0.78314	0.109;0.902;0.98;0.129;0.254;0.991	D	0.86070	0.1537	10	0.56958	D	0.05	-10.1178	18.4958	0.90864	0.0:1.0:0.0:0.0	.	435;418;455;448;321;321	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	H	455;448;438;321;321;418;438;435	ENSP00000354791:R455H;ENSP00000377571:R448H;ENSP00000384844:R321H;ENSP00000387270:R321H;ENSP00000386406:R418H;ENSP00000387327:R438H;ENSP00000386843:R435H	ENSP00000354791:R455H	R	-	2	0	DCTN1	74450628	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.615000	0.83006	2.659000	0.90383	0.655000	0.94253	CGC	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252227.3		-	ENST00000361874.3	Missense_Mutation	SNP	2 : 74597120 - 74597120 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	576	134
DDX55	57696	broad.mit.edu	37	12	124103244	124103244	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:124103244G>T	ENST00000238146.4	+	12	1243	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	DDX55_ENST00000541259.1_Intron|DDX55_ENST00000421670.3_Missense_Mutation_p.R5I|DDX55_ENST00000538744.1_Missense_Mutation_p.R367I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	398	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AAGCCCCAGAGAAACACAGCG	0.527		NA									OREG0022230	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													125	112	116			NA	NA	12		NA											NA				124103244		2203	4300	6503	SO:0001583	missense			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364	57696	57696		DEAD-boxes	20085	protein-coding gene	gene with protein product					NA	10997877	Standard		NM_020936	NA	Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1193G>T	12.37:g.124103244G>T	ENSP00000238146:p.Arg398Ile	1531	Q658L6|Q9HCH7	37	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279677	0.23307	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	T;T;T	0.44482	4.02;3.74;0.92	6.06	-2.24	0.06909	Helicase, C-terminal (1);	38.690800	0.00644	U	0.000527	T	0.19525	0.0469	N	0.02916	-0.46	0.25732	N	0.985252	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.13282	-1.0515	10	0.34782	T	0.22	-21.4456	5.5124	0.16888	0.29:0.1477:0.4657:0.0966	.	398;367	Q8NHQ9;F5H5U2	DDX55_HUMAN;.	I	398;367;5	ENSP00000238146:R398I;ENSP00000443114:R367I;ENSP00000442332:R5I	ENSP00000238146:R398I	R	+	2	0	DDX55	122669197	0.014000	0.17966	0.001000	0.08648	0.636000	0.38137	0.389000	0.20751	-0.570000	0.06022	-0.290000	0.09829	AGA	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400616.2		+	ENST00000238146.4	Missense_Mutation	SNP	12 : 124103244 - 124103244 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	336	78
EIF2B2	8892	broad.mit.edu	37	14	75472658	75472658	+	Silent	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr14:75472658C>A	ENST00000266126.5	+	5	767	c.687C>A	c.(685-687)gtC>gtA	p.V229V	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	229					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGTCAAGAGTCAACAAGGTGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													267	261	263			NA	NA	14		NA											NA				75472658		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718	8892	8892			3258	protein-coding gene	gene with protein product		606454	eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)		NA	8887689	Standard	NM_014239	NM_014239	NA	Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.687C>A	14.37:g.75472658C>A		NA	O43201	37	CCDS9836.1																																																																																			EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414993.1		+	ENST00000266126.5	Silent	SNP	14 : 75472658 - 75472658 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1132	12
ERCC3	2071	broad.mit.edu	37	2	128046338	128046338	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:128046338C>A	ENST00000285398.2	-	7	1019	c.925G>T	c.(925-927)Gac>Tac	p.D309Y	ERCC3_ENST00000493187.2_Missense_Mutation_p.D245Y	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	309					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGCTTTAGGTCAATGTTGATA	0.493		NA	Mis, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)		E	0													256	258	257			NA	NA	2		NA											NA				128046338		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161	2071	2071		General transcription factors, General transcription factor IIH complex subunits	3435	protein-coding gene	gene with protein product	xeroderma pigmentosum group B complementing	133510	excision repair cross-complementing rodent repair deficiency, complementation group 3		NA	8202161	Standard	NM_000122	NM_000122	NA	Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.925G>T	2.37:g.128046338C>A	ENSP00000285398:p.Asp309Tyr	NA	Q53QM0	37	CCDS2144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.993394|4.993394	0.93167|0.93167	.|.	.|.	ENSG00000163161|ENSG00000163161	ENST00000285398;ENST00000493187|ENST00000456257	T;T|.	0.37411|.	1.2;1.2|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76176|0.76176	0.3951|0.3951	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.74746|0.74746	-0.3561|-0.3561	10|5	0.87932|.	D|.	0|.	-21.8294|-21.8294	19.3996|19.3996	0.94623|0.94623	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309|.	P19447|.	ERCC3_HUMAN|.	Y|F	309;245|158	ENSP00000285398:D309Y;ENSP00000444796:D245Y|.	ENSP00000285398:D309Y|.	D|L	-|-	1|3	0|2	ERCC3|ERCC3	127762808|127762808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.757000|7.757000	0.85209|0.85209	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	GAC|TTG	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331028.1		-	ENST00000285398.2	Missense_Mutation	SNP	2 : 128046338 - 128046338 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1406	14
FAM19A2	338811	broad.mit.edu	37	12	62147455	62147455	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:62147455G>A	ENST00000416284.3	-	4	1916	c.332C>T	c.(331-333)cCg>cTg	p.P111L	FAM19A2_ENST00000551619.1_Missense_Mutation_p.P111L|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_Missense_Mutation_p.P14L	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	111						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTTCCGATCCGGAAGAACTTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	114	118			NA	NA	12		NA											NA				62147455		2203	4300	6503	SO:0001583	missense			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673	338811	338811			21589	protein-coding gene	gene with protein product					NA	15028294	Standard	NM_178539	NM_178539	NA	Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.332C>T	12.37:g.62147455G>A	ENSP00000393987:p.Pro111Leu	NA	B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	37	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853912	0.71719	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000550003	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79147	-0.1923	8	.	.	.	.	17.5418	0.87850	0.0:0.0:1.0:0.0	.	111	Q8N3H0	F19A2_HUMAN	L	111;111;14	.	.	P	-	2	0	FAM19A2	60433722	1.000000	0.71417	0.906000	0.35671	0.885000	0.51271	9.689000	0.98673	2.145000	0.66743	0.557000	0.71058	CCG	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407967.2		-	ENST00000416284.3	Missense_Mutation	SNP	12 : 62147455 - 62147455 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	465	10
FTSJ3	117246	broad.mit.edu	37	17	61897290	61897290	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:61897290C>T	ENST00000427159.2	-	21	3061	c.2416G>A	c.(2416-2418)Ggt>Agt	p.G806S		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	806					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGGCCCACACCTTTTTTGGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	143	147			NA	NA	17		NA											NA				61897290		2203	4300	6503	SO:0001583	missense			AF327355	CCDS11644.1	17q23.3	2014-09-11			ENSG00000108592	ENSG00000108592	117246	117246			17136	protein-coding gene	gene with protein product	SPB1 RNA methyltransferase homolog (S. cerevisiae)				NA		Standard		NM_017647	NA	Approved	SPB1	uc002jca.3	Q8IY81	OTTHUMG00000179012	ENST00000427159.2:c.2416G>A	17.37:g.61897290C>T	ENSP00000396673:p.Gly806Ser	NA	B2RCA5|D3DU22|Q8N3A3|Q8WXX1|Q9BWM4|Q9NXT6	37	CCDS11644.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750661	0.69533	.	.	ENSG00000108592	ENST00000427159	T	0.35605	1.3	4.9	4.9	0.64082	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.49012	0.1532	L	0.41710	1.295	0.50313	D	0.999868	D	0.65815	0.995	D	0.65684	0.937	T	0.36792	-0.9733	10	0.39692	T	0.17	-18.513	15.6231	0.76824	0.0:1.0:0.0:0.0	.	806	Q8IY81	RRMJ3_HUMAN	S	806	ENSP00000396673:G806S	ENSP00000396673:G806S	G	-	1	0	FTSJ3	59251022	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.637000	0.67854	2.539000	0.85634	0.563000	0.77884	GGT	FTSJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444386.1		-	ENST00000427159.2	Missense_Mutation	SNP	17 : 61897290 - 61897290 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	579	124
GAS7	8522	broad.mit.edu	37	17	9923135	9923135	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:9923135G>A	ENST00000323816.4	-	3	245	c.83C>T	c.(82-84)tCg>tTg	p.S28L	GAS7_ENST00000540214.1_Missense_Mutation_p.S24L|GAS7_ENST00000585266.1_Missense_Mutation_p.S28L|GAS7_ENST00000432992.2_Missense_Mutation_p.S88L|GAS7_ENST00000396115.2_Missense_Mutation_p.S24L|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000579158.1_Missense_Mutation_p.S24L|GAS7_ENST00000542249.1_Missense_Mutation_p.S24L|GAS7_ENST00000437099.2_Missense_Mutation_p.S24L			O60861	GAS7_HUMAN	growth arrest-specific 7	92	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCCCTGAGGCGACAGGTAGCT	0.597		NA	T	MLL	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													55	57	57			NA	NA	17		NA											NA				9923135		2203	4300	6503	SO:0001583	missense			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18					8522	8522			4169	protein-coding gene	gene with protein product		603127			NA	9736752	Standard	NM_003644, NM_201432, NM_201433	NM_001130831	NA	Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000323816.4:c.83C>T	17.37:g.9923135G>A	ENSP00000322608:p.Ser28Leu	NA	B2RCK9|O43144|Q53Y77|Q7Z571	37		.	.	.	.	.	.	.	.	.	.	G	25.2	4.610775	0.87258	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000540214;ENST00000537970	T;D;D	0.83250	2.04;-1.7;-1.7	5.02	5.02	0.67125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.68765	0.96;0.901;0.96	D	0.90263	0.4302	9	.	.	.	-21.8984	15.3829	0.74673	0.0:0.0:1.0:0.0	.	40;28;88	B7Z2L1;A8KAC2;O60861	.;.;GAS7_HUMAN	L	88;28;27;24;28	ENSP00000322608:S88L;ENSP00000379421:S28L;ENSP00000446214:S24L	.	S	-	2	0	GAS7	9863860	1.000000	0.71417	0.993000	0.49108	0.905000	0.53344	5.593000	0.67550	2.620000	0.88729	0.563000	0.77884	TCG	GAS7-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000439868.3		-	ENST00000323816.4	Missense_Mutation	SNP	17 : 9923135 - 9923135 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	237	49
GEMIN4	50628	broad.mit.edu	37	17	650776	650776	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:650776C>G	ENST00000437269.1	-	2	530				GEMIN4_ENST00000576778.1_Missense_Mutation_p.K158N|GEMIN4_ENST00000319004.5_Missense_Mutation_p.K169N			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	NA					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GACCCTTGTGCTTCATCACCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	147	144			NA	NA	17		NA											NA				650776		2052	4183	6235	SO:0001627	intron_variant			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409	50628	50628			15717	protein-coding gene	gene with protein product	HCC-associated protein 1, component of gems 4	606969			NA	10725331	Standard	NM_015721	NM_015721	NA	Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000437269.1:c.498+8G>C	17.37:g.650776C>G		NA	Q9NZS7|Q9UG32|Q9Y4Q2	37		.	.	.	.	.	.	.	.	.	.	C	14.03	2.414065	0.42817	.	.	ENSG00000179409	ENST00000319004	T	0.16457	2.34	5.71	-1.79	0.07932	.	0.098372	0.64402	D	0.000002	T	0.29850	0.0746	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	P	0.62298	0.9	T	0.05533	-1.0879	10	0.87932	D	0	-25.9594	10.9603	0.47381	0.0:0.4889:0.0:0.5111	.	169	P57678	GEMI4_HUMAN	N	169	ENSP00000321706:K169N	ENSP00000321706:K169N	K	-	3	2	GEMIN4	597526	0.314000	0.24563	0.992000	0.48379	0.249000	0.25844	-0.239000	0.08965	-0.251000	0.09542	-0.136000	0.14681	AAG	GEMIN4-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000437183.1		-	ENST00000437269.1	Intron	SNP	17 : 650776 - 650776 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	825	6
GOLGA3	2802	broad.mit.edu	37	12	133384600	133384600	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:133384600G>C	ENST00000450791.2	-	4	1238	c.1055C>G	c.(1054-1056)gCg>gGg	p.A352G	GOLGA3_ENST00000537452.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A352G|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A352G			Q08378	GOGA3_HUMAN	golgin A3	352					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGGGTATCCGCAGGAATCTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	74	77			NA	NA	12		NA											NA				133384600		2203	4300	6503	SO:0001583	missense			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615	2802	2802			4426	protein-coding gene	gene with protein product	SY2/SY10 protein, Golgi complex-associated protein of 170 kD	602581	golgi autoantigen, golgin subfamily a, 3		NA	8315394, 15829563	Standard	NM_005895	NM_001172557	NA	Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1055C>G	12.37:g.133384600G>C	ENSP00000410378:p.Ala352Gly	NA	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	g	9.288	1.049914	0.19827	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.43	1.61	0.23674	.	0.752409	0.13598	N	0.376048	T	0.25975	0.0633	L	0.56769	1.78	0.21355	N	0.999713	P;P;B	0.43352	0.804;0.553;0.394	B;B;B	0.35727	0.148;0.148;0.209	T	0.07868	-1.0750	10	0.45353	T	0.12	.	9.2674	0.37650	0.3553:0.0:0.6447:0.0	.	352;352;352	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	G	352	ENSP00000204726:A352G;ENSP00000410378:A352G;ENSP00000409303:A352G;ENSP00000442143:A352G;ENSP00000442603:A352G	ENSP00000204726:A352G	A	-	2	0	GOLGA3	131894673	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	2.066000	0.41452	0.289000	0.22422	-0.232000	0.12228	GCG	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397569.2		-	ENST00000450791.2	Missense_Mutation	SNP	12 : 133384600 - 133384600 C PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	409	87
GTPBP4	23560	broad.mit.edu	37	10	1058521	1058521	+	Silent	SNP	T	T	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:1058521T>A	ENST00000360803.4	+	14	1543	c.1461T>A	c.(1459-1461)atT>atA	p.I487I	GTPBP4_ENST00000545048.1_Silent_p.I440I|GTPBP4_ENST00000538293.1_Silent_p.I371I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	487					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CAAAGCAAATTCGAGAGAAAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	78	75			NA	NA	10		NA											NA				1058521		2203	4300	6503	SO:0001819	synonymous_variant			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937	23560	23560			21535	protein-coding gene	gene with protein product	G protein-binding protein CRFG,  GTP-binding protein				NA	11316846	Standard	NM_012341	NM_012341	NA	Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1461T>A	10.37:g.1058521T>A		NA	O95446|Q5T3R8|Q9NVJ8	37	CCDS31132.1																																																																																			GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046412.1		+	ENST00000360803.4	Silent	SNP	10 : 1058521 - 1058521 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	308	80
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											179	169	173			NA	NA	1		NA											NA				149858030		2203	4298	6501	SO:0001583	missense			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678	8349	8349		Histones / Replication-dependent	4760	protein-coding gene	gene with protein product		601831	H2B histone family, member Q, histone 2, H2be	H2B, H2BFQ	NA	1469070, 12408966	Standard	NM_003528	NM_003528	NA	Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.161G>A	1.37:g.149858030C>T	ENSP00000358151:p.Gly54Asp	NA	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	37	CCDS936.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885533	0.91814	.	.	ENSG00000184678	ENST00000369155	T	0.69435	-0.4	5.89	5.89	0.94794	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.93150	3.385	0.50171	D	0.999859	D	0.61697	0.99	D	0.64595	0.927	D	0.87651	0.2528	10	0.87932	D	0	.	18.9081	0.92471	0.0:1.0:0.0:0.0	.	54	Q16778	H2B2E_HUMAN	D	54	ENSP00000358151:G54D	ENSP00000358151:G54D	G	-	2	0	HIST2H2BE	148124654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.820000	0.69250	2.810000	0.96702	0.586000	0.80456	GGC	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033455.1		-	ENST00000369155.2	Missense_Mutation	SNP	1 : 149858030 - 149858030 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1377	9
HTR1A	3350	broad.mit.edu	37	5	63257207	63257207	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:63257207C>T	ENST00000323865.3	-	1	573	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	114					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACGTCGAGGGCGATGAACAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	63	65			NA	NA	5		NA											NA				63257207		2202	4300	6502	SO:0001583	missense			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394	3350	3350		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5286	protein-coding gene	gene with protein product		109760	5-hydroxytryptamine (serotonin) receptor 1A	ADRB2RL1, ADRBRL1	NA	2591972, 12969265	Standard	NM_000524	NM_000524	NA	Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.340G>A	5.37:g.63257207C>T	ENSP00000316244:p.Ala114Thr	NA	Q6LAE7	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747595	0.49257	.	.	ENSG00000178394	ENST00000323865	T	0.37752	1.18	5.12	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.060603	0.64402	D	0.000002	T	0.22044	0.0531	N	0.25426	0.745	0.41085	D	0.985551	P	0.41848	0.763	B	0.35655	0.207	T	0.03148	-1.1067	10	0.26408	T	0.33	.	12.99	0.58614	0.752:0.2479:0.0:0.0	.	114	P08908	5HT1A_HUMAN	T	114	ENSP00000316244:A114T	ENSP00000316244:A114T	A	-	1	0	HTR1A	63292963	0.996000	0.38824	0.989000	0.46669	0.928000	0.56348	2.510000	0.45468	0.399000	0.25367	0.561000	0.74099	GCC	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368397.1		-	ENST00000323865.3	Missense_Mutation	SNP	5 : 63257207 - 63257207 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	106	15
JAGN1	84522	broad.mit.edu	37	3	9934929	9934930	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:9934929_9934930insG	ENST00000307768.4	+	2	589_590	c.420_421insG	c.(421-423)ggtfs	p.G141fs		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	141						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GTTTCCTCTTTGGTTTTTCTGC	0.515		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135	84522	84522			26926	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032492	NM_032492	NA	Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.422dupG	3.37:g.9934931_9934931dupG	ENSP00000306106:p.Gly141fs	NA	Q8NCF6|Q96SW1	37	CCDS2588.1																																																																																			JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250335.1		+	ENST00000307768.4	Frame_Shift_Ins	INS	3 : 9934929 - 9934930 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	489	131
KDM5B	10765	broad.mit.edu	37	1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	rs76768289		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	461	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATGTTGTTCAAATTCCAGC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	101	99			NA	NA	1		NA											NA				202724554		2203	4300	6503	SO:0001583	missense			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139	10765	10765		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	18039	protein-coding gene	gene with protein product	cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98	605393	Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B	JARID1B	NA	11483573, 11478881	Standard	NM_006618	NM_006618	NA	Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1383G>T	1.37:g.202724554C>A	ENSP00000356234:p.Leu461Phe	NA	O95811|Q15752|Q9Y3Q5	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700822	0.68501	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	4.82	0.62117	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.961;0.999	D	0.88022	0.2769	10	0.87932	D	0	-12.7178	9.1277	0.36826	0.0:0.7688:0.0:0.2312	.	497;461	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	461;303;497;303	ENSP00000356234:L461F;ENSP00000356233:L497F;ENSP00000235790:L303F	ENSP00000235790:L303F	L	-	3	2	KDM5B	200991177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.022000	0.41030	1.425000	0.47237	0.655000	0.94253	TTG	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099184.2		-	ENST00000367265.3	Missense_Mutation	SNP	1 : 202724554 - 202724554 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	634	19
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	427	94
LRRC4B	94030	broad.mit.edu	37	19	51021095	51021095	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:51021095G>T	ENST00000599957.1	-	3	2072	c.1875C>A	c.(1873-1875)ccC>ccA	p.P625P	LRRC4B_ENST00000389201.3_Silent_p.P625P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	625						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCGAGGCGGCGGGCAGCTCGT	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	18			NA	NA	19		NA											NA				51021095		2030	4164	6194	SO:0001819	synonymous_variant			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	94030	94030		Immunoglobulin superfamily / I-set domain containing, Endogenous ligands	25042	protein-coding gene	gene with protein product	netrin-G3 ligand		leucine-rich repeats and immunoglobulin-like domains 4	LRIG4	NA	11441184	Standard	NM_001080457	NM_001080457	NA	Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1875C>A	19.37:g.51021095G>T		NA	Q3ZCQ4|Q58F20	37	CCDS42595.1																																																																																			LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464907.1		-	ENST00000599957.1	Silent	SNP	19 : 51021095 - 51021095 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	159	41
MACF1	23499	broad.mit.edu	37	1	39951311	39951311	+	Silent	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:39951311T>C	ENST00000372915.3	+	97	22099	c.22012T>C	c.(22012-22014)Tta>Cta	p.L7338L	MACF1_ENST00000317713.7_Silent_p.L5380L|MACF1_ENST00000539005.1_Silent_p.L5250L|MACF1_ENST00000289893.4_Silent_p.L5888L|MACF1_ENST00000545844.1_Silent_p.L5380L|MACF1_ENST00000361689.2_Silent_p.L5380L|MACF1_ENST00000564288.1_Silent_p.L7505L|MACF1_ENST00000567887.1_Silent_p.L7542L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7338	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTGACCTCTTAGAGACGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	75	73			NA	NA	1		NA											NA				39951311		2203	4300	6503	SO:0001819	synonymous_variant			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.22012T>C	1.37:g.39951311T>C		NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	T	4.373	0.068714	0.08436	.	.	ENSG00000127603	ENST00000372925;ENST00000446276	T;T	0.67865	1.42;-0.29	5.28	-1.78	0.07957	.	0.000000	0.44483	D	0.000443	T	0.59622	0.2207	.	.	.	0.30229	N	0.796068	.	.	.	.	.	.	T	0.59925	-0.7362	6	.	.	.	.	11.6204	0.51115	0.0:0.7097:0.0:0.2903	.	.	.	.	P	4383;404	ENSP00000362016:L4383P;ENSP00000391512:L404P	.	L	+	2	0	MACF1	39723898	0.036000	0.19791	0.951000	0.38953	0.993000	0.82548	0.258000	0.18387	-0.143000	0.11334	0.533000	0.62120	CTT	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Silent	SNP	1 : 39951311 - 39951311 C PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	207	71
MAGI2	9863	broad.mit.edu	37	7	77797420	77797420	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:77797420C>A	ENST00000354212.4	-	15	2662	c.2409G>T	c.(2407-2409)ttG>ttT	p.L803F	MAGI2_ENST00000419488.1_Missense_Mutation_p.L789F|MAGI2_ENST00000522391.1_Missense_Mutation_p.L803F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	803	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGCTCCAATCAAAATCTAGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	79	80			NA	NA	7		NA											NA				77797420		2203	4300	6503	SO:0001583	missense			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391	9863	9863			18957	protein-coding gene	gene with protein product		606382			NA	10681527, 9734811	Standard	NM_012301	XM_005250725	NA	Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2409G>T	7.37:g.77797420C>A	ENSP00000346151:p.Leu803Phe	NA	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229530	0.39399	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.24723	1.84;1.84;1.84	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.29501	U	0.011973	T	0.23572	0.0570	N	0.10629	0.01	0.80722	D	1	P;P;D	0.58970	0.949;0.721;0.984	P;B;P	0.57846	0.776;0.287;0.828	T	0.04216	-1.0968	10	0.49607	T	0.09	.	8.9913	0.36026	0.0:0.7613:0.1607:0.078	.	803;789;803	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	F	789;803;803;803	ENSP00000405766:L789F;ENSP00000346151:L803F;ENSP00000428389:L803F	ENSP00000346151:L803F	L	-	3	2	MAGI2	77635356	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	0.430000	0.21428	2.831000	0.97527	0.650000	0.86243	TTG	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253197.3		-	ENST00000354212.4	Missense_Mutation	SNP	7 : 77797420 - 77797420 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	368	8
MCTP2	55784	broad.mit.edu	37	15	94945245	94945245	+	Silent	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:94945245C>T	ENST00000357742.4	+	16	2082	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	MCTP2_ENST00000451018.3_Silent_p.F694F|MCTP2_ENST00000557742.1_Silent_p.F282F|MCTP2_ENST00000331706.4_Silent_p.F282F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	694					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAATAGCATTCGCGGTAAGCT	0.383		NA											C	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	4e-04	SNP								NA				0													107	104	105			NA	NA	15		NA											NA				94945245		2197	4298	6495	SO:0001819	synonymous_variant			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563	55784	55784			25636	protein-coding gene	gene with protein product					NA	15528213	Standard	NM_018349	NM_018349	NA	Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2082C>T	15.37:g.94945245C>T		NA	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	37	CCDS32338.1																																																																																			MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415060.3		+	ENST00000357742.4	Silent	SNP	15 : 94945245 - 94945245 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	636	120
MYCBP2	23077	broad.mit.edu	37	13	77672265	77672265	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr13:77672265G>T	ENST00000544440.2	-	56	8927	c.8910C>A	c.(8908-8910)ttC>ttA	p.F2970L	MYCBP2_ENST00000407578.2_Missense_Mutation_p.F3008L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.F2970L|MYCBP2_ENST00000360084.5_Missense_Mutation_p.Q493K|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2-AS1_ENST00000593933.1_RNA			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2970					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATCTCCTTTGAAAAGAAAAC	0.453		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	13		NA											NA				77672265		2203	4300	6503	SO:0001583	missense			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810	23077	23077			23386	protein-coding gene	gene with protein product		610392	MYC binding protein 2		NA	9689053, 15057823	Standard	NM_015057	NM_015057	NA	Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8910C>A	13.37:g.77672265G>T	ENSP00000444596:p.Phe2970Leu	NA	A6NJC6|Q5JSX8|Q5VZN6|Q6PIB6|Q9UQ11|Q9Y6E4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.246|6.246	0.413583|0.413583	0.11812|0.11812	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000360084	T;T;T|T	0.27402|0.37584	1.67;1.67;1.67|1.19	5.56|5.56	3.83|3.83	0.44106|0.44106	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.29126|0.29126	0.0724|0.0724	L|L	0.41236|0.41236	1.265|1.265	0.47183|0.47183	D|D	0.999341|0.999341	P;B;P|.	0.52170|.	0.951;0.367;0.924|.	P;B;P|.	0.60682|.	0.718;0.261;0.878|.	T|T	0.04825|0.04825	-1.0924|-1.0924	10|7	0.11485|0.02654	T|T	0.65|1	.|.	11.1986|11.1986	0.48728|0.48728	0.2057:0.0:0.7943:0.0|0.2057:0.0:0.7943:0.0	.|.	356;2970;2970|.	Q9UG08;O75592-2;O75592|.	.;.;MYCB2_HUMAN|.	L|K	2970;3008;2970|493	ENSP00000349892:F2970L;ENSP00000384288:F3008L;ENSP00000444596:F2970L|ENSP00000353197:Q493K	ENSP00000349892:F2970L|ENSP00000353197:Q493K	F|Q	-|-	3|1	2|0	MYCBP2|MYCBP2	76570266|76570266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.425000|1.425000	0.34859|0.34859	0.712000|0.712000	0.32039|0.32039	0.585000|0.585000	0.79938|0.79938	TTC|CAA	MYCBP2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000045326.1		-	ENST00000544440.2	Missense_Mutation	SNP	13 : 77672265 - 77672265 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	601	10
NFKBIB	4793	broad.mit.edu	37	19	39398260	39398260	+	Silent	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:39398260C>T	ENST00000572515.1	+	5	1011	c.930C>T	c.(928-930)ccC>ccT	p.P310P	NFKBIB_ENST00000392079.3_Silent_p.P278P|NFKBIB_ENST00000313582.5_Silent_p.P310P			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	310					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AATCCGGCCCCTGCAGCAGCA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(165;1492 2005 6979 7739 34483)							NA				0													10	12	11			NA	NA	19		NA											NA				39398260		2182	4270	6452	SO:0001819	synonymous_variant			L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825	4793	4793		Ankyrin repeat domain containing	7798	protein-coding gene	gene with protein product		604495			NA	9763672	Standard	NM_002503	NM_002503	NA	Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000572515.1:c.930C>T	19.37:g.39398260C>T		NA	A8K3F4|Q96BJ7	37																																																																																				NFKBIB-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000438152.1		+	ENST00000572515.1	Silent	SNP	19 : 39398260 - 39398260 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	87	26
NONO	4841	broad.mit.edu	37	X	70517747	70517747	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:70517747C>T	ENST00000276079.8	+	9	1295	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	NONO_ENST00000373841.1_Missense_Mutation_p.R364W|NONO_ENST00000373856.3_Missense_Mutation_p.R364W|NONO_ENST00000535149.1_Missense_Mutation_p.R275W|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	364	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGAAATGATGCGGCGACAGCA	0.512		NA	T	TFE3	papillary renal cancer									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		X	Xq13.1	4841	non-POU domain containing, octamer-binding		E	0													91	68	76			NA	NA	X		NA											NA				70517747		2203	4300	6503	SO:0001583	missense			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140	4841	4841		RNA binding motif (RRM) containing	7871	protein-coding gene	gene with protein product	Nuclear RNA-binding protein, 54-kD, non-Pou domain-containing octamer (ATGCAAAT) binding protein, protein phosphatase 1, regulatory subunit 114	300084	non-POU-domain-containing, octamer-binding		NA	8371983, 9360842	Standard	NM_007363	NM_007363	NA	Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1090C>T	X.37:g.70517747C>T	ENSP00000276079:p.Arg364Trp	NA	D3DVV4|O00201|P30807|Q12786|Q9BQC5	37	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.235855	0.58886	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.31510	1.54;1.49;1.49;1.49	5.23	4.35	0.52113	.	0.050066	0.85682	D	0.000000	T	0.50548	0.1622	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	T	0.54576	-0.8273	10	0.87932	D	0	-11.2943	11.2281	0.48897	0.5288:0.4712:0.0:0.0	.	364	Q15233	NONO_HUMAN	W	275;364;364;364	ENSP00000441364:R275W;ENSP00000276079:R364W;ENSP00000362963:R364W;ENSP00000362947:R364W	ENSP00000276079:R364W	R	+	1	2	NONO	70434472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.256000	0.51492	1.145000	0.42336	0.529000	0.55759	CGG	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057138.1		+	ENST00000276079.8	Missense_Mutation	SNP	X : 70517747 - 70517747 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	132	5
NUB1	51667	broad.mit.edu	37	7	151046243	151046243	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:151046243A>G	ENST00000568733.1	+	3	340	c.274A>G	c.(274-276)Att>Gtt	p.I92V	NUB1_ENST00000566856.1_Missense_Mutation_p.I68V|NUB1_ENST00000413040.2_Missense_Mutation_p.I92V|NUB1_ENST00000355851.4_Missense_Mutation_p.I68V			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	68					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTGCAAGGCAATTGAGCGTGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	120	121			NA	NA	7		NA											NA				151046243		1861	4102	5963	SO:0001583	missense			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374	51667	51667			17623	protein-coding gene	gene with protein product	NEDD8 ultimate buster-1	607981			NA	10508479, 11259415	Standard	NM_016118	NM_001243351	NA	Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000568733.1:c.274A>G	7.37:g.151046243A>G	ENSP00000454264:p.Ile92Val	NA	O95422|Q75MR9|Q8IX22|Q9BXR2	37	CCDS59089.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576657	0.28092	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.42900	0.96;0.96;0.96	5.95	2.18	0.27775	.	0.222920	0.47093	N	0.000249	T	0.23249	0.0562	N	0.25201	0.72	0.35458	D	0.7963	B;B;B	0.24092	0.097;0.002;0.004	B;B;B	0.18263	0.021;0.002;0.004	T	0.19976	-1.0289	10	0.14252	T	0.57	-16.5287	8.2332	0.31610	0.7526:0.0:0.2474:0.0	.	68;68;68	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	V	68	ENSP00000348110:I68V;ENSP00000418234:I68V;ENSP00000420086:I68V	ENSP00000348110:I68V	I	+	1	0	NUB1	150677176	0.995000	0.38212	0.991000	0.47740	0.997000	0.91878	1.119000	0.31258	0.131000	0.18576	0.533000	0.62120	ATT	NUB1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348634.2		+	ENST00000568733.1	Missense_Mutation	SNP	7 : 151046243 - 151046243 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	519	134
OR6C76	390326	broad.mit.edu	37	12	55820043	55820043	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:55820043A>C	ENST00000328314.3	+	1	6	c.6A>C	c.(4-6)aaA>aaC	p.K2N		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGAAATGAAAAATAGAACAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	99	100			NA	NA	12		NA											NA				55820043		2203	4300	6503	SO:0001583	missense				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821	390326	390326		GPCR / Class A : Olfactory receptors	31305	protein-coding gene	gene with protein product					NA		Standard	NM_001005183	NM_001005183	NA	Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.6A>C	12.37:g.55820043A>C	ENSP00000328402:p.Lys2Asn	NA		37	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	a	14.40	2.524254	0.44866	.	.	ENSG00000185821	ENST00000328314	T	0.01455	4.87	4.35	0.417	0.16421	.	0.826740	0.10355	U	0.684675	T	0.01523	0.0049	N	0.25992	0.78	0.09310	N	1	B	0.16603	0.018	B	0.17098	0.017	T	0.47959	-0.9076	10	0.72032	D	0.01	.	2.9347	0.05810	0.518:0.2723:0.0781:0.1316	.	2	A6NM76	O6C76_HUMAN	N	2	ENSP00000328402:K2N	ENSP00000328402:K2N	K	+	3	2	OR6C76	54106310	0.003000	0.15002	0.105000	0.21289	0.688000	0.40055	1.295000	0.33377	-0.019000	0.14055	0.487000	0.48397	AAA	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406675.1		+	ENST00000328314.3	Missense_Mutation	SNP	12 : 55820043 - 55820043 C PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	385	23
PCDHB7	56129	broad.mit.edu	37	5	140553447	140553447	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:140553447G>A	ENST00000231137.3	+	1	1205	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGATAATCGACCCGAGCTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	43	43			NA	NA	5		NA											NA				140553447		2203	4300	6503	SO:0001583	missense			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212	56129	56129		Cadherins / Protocadherins : Clustered	8692	other	protocadherin		606333			NA	10380929	Standard	NM_018940	NM_018940	NA	Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1031G>A	5.37:g.140553447G>A	ENSP00000231137:p.Arg344Gln	NA		37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	8.889	0.953432	0.18431	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01725	4.67	4.18	1.2	0.21068	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02156	0.0067	L	0.39245	1.2	0.23180	N	0.99816	B	0.06786	0.001	B	0.04013	0.001	T	0.40961	-0.9535	9	0.66056	D	0.02	.	9.3365	0.38054	0.2689:0.5558:0.1753:0.0	.	344	Q9Y5E2	PCDB7_HUMAN	Q	344;127	ENSP00000231137:R344Q	ENSP00000231137:R344Q	R	+	2	0	PCDHB7	140533631	0.012000	0.17670	0.626000	0.29213	0.013000	0.08279	2.647000	0.46639	0.054000	0.16065	-1.142000	0.01873	CGA	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251803.2		+	ENST00000231137.3	Missense_Mutation	SNP	5 : 140553447 - 140553447 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	325	56
PITPNM2	57605	broad.mit.edu	37	12	123480179	123480179	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:123480179A>G	ENST00000280562.5	-	13	2016	c.1811T>C	c.(1810-1812)cTg>cCg	p.L604P	PITPNM2_ENST00000320201.4_Missense_Mutation_p.L604P|PITPNM2_ENST00000542749.1_Missense_Mutation_p.L604P|PITPNM2_ENST00000392428.1_Missense_Mutation_p.L325P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	604					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGCATTCATCAGGATGCCCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	20	23			NA	NA	12		NA											NA				123480179		2202	4299	6501	SO:0001583	missense			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975	57605	57605			21044	protein-coding gene	gene with protein product		608920			NA	10022914	Standard	NM_020845	XM_005253582	NA	Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000280562.5:c.1811T>C	12.37:g.123480179A>G	ENSP00000280562:p.Leu604Pro	NA	Q9P271	37		.	.	.	.	.	.	.	.	.	.	A	7.514	0.655371	0.14580	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47528	1.16;1.16;0.84;1.16	4.83	2.46	0.29980	.	1.317200	0.05113	N	0.489206	T	0.38026	0.1025	L	0.29908	0.895	0.50813	D	0.999895	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.0	T	0.08764	-1.0706	10	0.52906	T	0.07	-2.8824	7.1979	0.25864	0.7029:0.0:0.2971:0.0	.	604;604	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	P	604;604;325;604	ENSP00000280562:L604P;ENSP00000322218:L604P;ENSP00000376223:L325P;ENSP00000437611:L604P	ENSP00000280562:L604P	L	-	2	0	PITPNM2	122046132	1.000000	0.71417	0.067000	0.19924	0.223000	0.24884	2.220000	0.42908	0.223000	0.20920	0.459000	0.35465	CTG	PITPNM2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000401341.1		-	ENST00000280562.5	Missense_Mutation	SNP	12 : 123480179 - 123480179 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	105	5
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220315	10220315	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:10220315G>T	ENST00000428358.1	+	6	694	c.522G>T	c.(520-522)ctG>ctT	p.L174L	PPAN_ENST00000556468.1_Silent_p.L174L|PPAN-P2RY11_ENST00000393796.4_Silent_p.L174L|PPAN_ENST00000253107.7_Silent_p.L174L|PPAN_ENST00000393793.1_Silent_p.L121L	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 readthrough	174	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGGTGAACCTGAACACCATCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													250	263	258			NA	NA	19		NA											NA				10220315		2203	4300	6503	SO:0001819	synonymous_variant			AJ300588	CCDS42498.1, CCDS56082.1	19p13.2	2009-09-17			ENSG00000243207	ENSG00000243207	692312	692312			33526	other	readthrough					NA		Standard	NM_001040664	NM_001040664	NA	Approved		uc002mna.3		OTTHUMG00000150165	ENST00000428358.1:c.522G>T	19.37:g.10220315G>T		NA	Q9BW97|Q9H170	37	CCDS56082.1																																																																																			PPAN-P2RY11-002	NOVEL	basic|readthrough_transcript|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345524.1		+	ENST00000428358.1	Silent	SNP	19 : 10220315 - 10220315 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1433	17
PPAP2C	8612	broad.mit.edu	37	19	291323	291323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:291323C>T	ENST00000269812.3	-	1	63	c.14G>A	c.(13-15)tGg>tAg	p.W5*	PPAP2C_ENST00000434325.2_Intron	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	5					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGAAGACCCACCTCCGCTG	0.756		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	49	47			NA	NA	19		NA											NA				291323		2177	4286	6463	SO:0001587	stop_gained			AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	8612	8612	3.1.3.4		9230	protein-coding gene	gene with protein product		607126			NA	9570154, 9607309	Standard		NM_177543	NA	Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.14G>A	19.37:g.291323C>T	ENSP00000269812:p.Trp5*	NA	A6NLV0	37	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	c	36	5.704477	0.96812	.	.	ENSG00000141934	ENST00000269812	.	.	.	3.51	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	6.8058	0.23777	0.0:0.8261:0.0:0.1739	.	.	.	.	X	5	.	ENSP00000269812:W5X	W	-	2	0	PPAP2C	242323	0.980000	0.34600	1.000000	0.80357	0.754000	0.42855	-0.025000	0.12413	1.497000	0.48584	0.289000	0.19496	TGG	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451777.2		-	ENST00000269812.3	Nonsense_Mutation	SNP	19 : 291323 - 291323 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	249	51
PRAMEF1	65121	broad.mit.edu	37	1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	1		NA											NA				12855916		2201	4294	6495	SO:0001583	missense			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721	65121	65121		-	28840	protein-coding gene	gene with protein product					NA		Standard	NM_023013	NM_023013	NA	Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1196G>A	1.37:g.12855916G>A	ENSP00000332134:p.Arg399His	NA	Q9UQP2	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212215	0.06140	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.49432	0.78;0.78	1.56	-0.674	0.11369	.	1.571450	0.04233	N	0.335492	T	0.30008	0.0751	L	0.27053	0.805	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.09357	-1.0678	10	0.12430	T	0.62	.	4.1186	0.10094	0.4747:0.0:0.5253:0.0	.	399	O95521	PRAM1_HUMAN	H	399;154	ENSP00000332134:R399H;ENSP00000383616:R154H	ENSP00000332134:R399H	R	+	2	0	PRAMEF1	12778503	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-2.135000	0.01306	-0.196000	0.10366	0.205000	0.17691	CGC	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005458.1		+	ENST00000332296.7	Missense_Mutation	SNP	1 : 12855916 - 12855916 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	724	170
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	70	73	72		1196	-1.6	0	1	dbSNP_134	72	1,8591	2.2+/-6.3	0,1,4295	no	missense	PRAMEF2	NM_023014.1	29	0,2,6496	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging	399/475	12921405	2,12994	2202	4296	6498	SO:0001583	missense				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952	65122	65122		-	28841	protein-coding gene	gene with protein product					NA		Standard	NM_023014	NM_023014	NA	Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1196G>A	1.37:g.12921405G>A	ENSP00000240189:p.Arg399His	NA		37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903719	0.02453	2.27E-4	1.16E-4	ENSG00000120952	ENST00000240189	T	0.49432	0.78	0.824	-1.65	0.08291	.	1.555060	0.04295	N	0.346332	T	0.30634	0.0771	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.08330	-1.0727	10	0.13470	T	0.59	.	4.0967	0.09995	0.6152:0.0:0.3848:0.0	.	399	O60811	PRAM2_HUMAN	H	399	ENSP00000240189:R399H	ENSP00000240189:R399H	R	+	2	0	PRAMEF2	12843992	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.445000	0.02401	-0.729000	0.04875	-1.252000	0.01501	CGC	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005517.1		+	ENST00000240189.2	Missense_Mutation	SNP	1 : 12921405 - 12921405 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	352	7
PRSS1	5644	broad.mit.edu	37	7	142458439	142458439	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142458439T>C	ENST00000486171.1	+	2	91	c.74T>C	c.(73-75)gTt>gCt	p.V25A	PRSS1_ENST00000311737.7_Missense_Mutation_p.V25A			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	25	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GACAAGATCGTTGGGGGCTAC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	155	155			NA	NA	7		NA											NA				142458439		2203	4300	6503	SO:0001583	missense			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	5644	5644	3.4.21.4	Serine peptidases / Serine peptidases	9475	protein-coding gene	gene with protein product		276000		TRY1	NA		Standard		NM_002769	NA	Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000486171.1:c.74T>C	7.37:g.142458439T>C	ENSP00000417854:p.Val25Ala	NA	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	37		.	.	.	.	.	.	.	.	.	.	T	13.62	2.291402	0.40494	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.94457	-3.43;-3.43	3.49	2.29	0.28610	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.057642	0.64402	D	0.000001	D	0.96457	0.8844	M	0.84773	2.715	0.42968	D	0.994423	P	0.38677	0.642	P	0.56960	0.81	D	0.95576	0.8642	10	0.87932	D	0	.	8.5187	0.33262	0.1739:0.0:0.0:0.8261	.	25	P07477	TRY1_HUMAN	A	25	ENSP00000417854:V25A;ENSP00000308720:V25A	ENSP00000308720:V25A	V	+	2	0	PRSS1	142138013	1.000000	0.71417	0.919000	0.36401	0.005000	0.04900	4.922000	0.63404	0.484000	0.27630	-0.794000	0.03295	GTT	PRSS1-003	NOVEL	not_best_in_genome_evidence|basic	protein_coding	NA	protein_coding	OTTHUMT00000352540.2		+	ENST00000486171.1	Missense_Mutation	SNP	7 : 142458439 - 142458439 C PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1227	117
PSAT1	29968	broad.mit.edu	37	9	80921289	80921289	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:80921289G>A	ENST00000376588.3	+	5	525	c.457G>A	c.(457-459)Gca>Aca	p.A153T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	153					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.A153T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTATTATTGCGCAAATGAGAC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(34;187 791 10662 18313 37609)							NA				1	Substitution - Missense(1)	urinary_tract(1)											334	308	317			NA	NA	9		NA											NA				80921289		2203	4300	6503	SO:0001583	missense			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069	29968	29968			19129	protein-coding gene	gene with protein product		610936			NA	12633500, 3651428	Standard	NM_021154	NM_058179	NA	Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.457G>A	9.37:g.80921289G>A	ENSP00000365773:p.Ala153Thr	NA	Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	37	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551918	0.27739	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.62941	-0.01;-0.01	5.85	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.261328	0.43747	D	0.000534	T	0.37598	0.1009	N	0.12746	0.255	0.48236	D	0.999615	P;B	0.37864	0.61;0.076	B;B	0.28139	0.086;0.034	T	0.16305	-1.0407	10	0.27785	T	0.31	-6.2508	11.7802	0.52010	0.0661:0.1237:0.8102:0.0	.	153;153	Q9Y617-2;Q9Y617	.;SERC_HUMAN	T	153	ENSP00000317606:A153T;ENSP00000365773:A153T	ENSP00000317606:A153T	A	+	1	0	PSAT1	80111109	1.000000	0.71417	0.699000	0.30290	0.814000	0.46013	5.862000	0.69560	0.820000	0.34516	0.655000	0.94253	GCA	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052777.1		+	ENST00000376588.3	Missense_Mutation	SNP	9 : 80921289 - 80921289 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1678	11
RELN	5649	broad.mit.edu	37	7	103132427	103132427	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:103132427A>G	ENST00000428762.1	-	58	9575	c.9416T>C	c.(9415-9417)gTa>gCa	p.V3139A	RELN_ENST00000343529.5_Missense_Mutation_p.V3139A|RELN_ENST00000424685.2_Missense_Mutation_p.V3139A|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3139					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAGCATTACGGAATGAAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(146;835 1944 15585 22231 52158)							NA				0													94	84	87			NA	NA	7		NA											NA				103132427		2203	4300	6503	SO:0001583	missense				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056	5649	5649			9957	protein-coding gene	gene with protein product		600514			NA	9049633	Standard	NM_005045	NM_005045	NA	Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9416T>C	7.37:g.103132427A>G	ENSP00000392423:p.Val3139Ala	NA	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.658140	0.88154	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.34472	1.36;1.36;1.36	5.93	5.93	0.95920	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.76170	2.325	0.58432	D	0.999999	D;B	0.55800	0.973;0.34	D;B	0.63957	0.92;0.224	T	0.63812	-0.6552	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	3139;3139	P78509-2;P78509	.;RELN_HUMAN	A	3139;3139;3139;656;3139	ENSP00000392423:V3139A;ENSP00000345694:V3139A;ENSP00000388446:V3139A	ENSP00000345694:V3139A	V	-	2	0	RELN	102919663	1.000000	0.71417	0.843000	0.33291	0.866000	0.49608	8.558000	0.90704	2.271000	0.75665	0.459000	0.35465	GTA	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348148.1		-	ENST00000428762.1	Missense_Mutation	SNP	7 : 103132427 - 103132427 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	273	63
RGPD4	285190	broad.mit.edu	37	2	108507185	108507185	+	Nonstop_Mutation	SNP	T	T	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:108507185T>G	ENST00000408999.3	+	23	5352	c.5275T>G	c.(5275-5277)Taa>Gaa	p.*1759E		NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	0					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGGTGAGGAATAAAATGCTTC	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	33	35			NA	NA	2		NA											NA				108507185		692	1590	2282	SO:0001578	stop_lost			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862	285190	285190		Tetratricopeptide (TTC) repeat domain containing	32417	protein-coding gene	gene with protein product		612707			NA	15710750, 15815621	Standard	XM_496581	NM_182588	NA	Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.5275T>G	2.37:g.108507185T>G	ENSP00000386810:p.*1759Gluext*20	NA	B9A029	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	t	9.589	1.125643	0.20959	.	.	ENSG00000196862	ENST00000408999;ENST00000439322	.	.	.	0.7	0.7	0.18099	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8512	0.24016	0.0:0.0:0.7222:0.2778	.	.	.	.	E	1759;1126	.	.	X	+	1	0	RGPD4	107873617	1.000000	0.71417	0.989000	0.46669	0.362000	0.29581	3.187000	0.50950	-0.116000	0.11893	-1.681000	0.00736	TAA	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330096.2		+	ENST00000408999.3	Nonstop_Mutation	SNP	2 : 108507185 - 108507185 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	216	4
SCRIB	23513	broad.mit.edu	37	8	144891881	144891881	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:144891881C>T	ENST00000356994.2	-	14	1544	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.R432Q|SCRIB_ENST00000320476.3_Missense_Mutation_p.R513Q	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	513	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCACTCAGCCGCTTCTCCTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(51;966 1133 10533 14576 29674)							NA				0													34	30	32			NA	NA	8		NA											NA				144891881		2200	4292	6492	SO:0001583	missense			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900	23513	23513			30377	protein-coding gene	gene with protein product		607733	scribbled homolog (Drosophila)		NA	11027293, 14681682	Standard	NM_015356	NM_182706	NA	Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000356994.2:c.1538G>A	8.37:g.144891881C>T	ENSP00000349486:p.Arg513Gln	NA	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	37	CCDS6412.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.351523	0.41700	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.78924	-1.22;-1.22;-1.22	4.54	3.64	0.41730	.	.	.	.	.	T	0.80649	0.4663	L	0.47716	1.5	0.46396	D	0.999022	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.74722	-0.3569	9	0.11485	T	0.65	.	11.3811	0.49757	0.0:0.9096:0.0:0.0904	.	513;513	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	513;513;432	ENSP00000349486:R513Q;ENSP00000322938:R513Q;ENSP00000366756:R432Q	ENSP00000322938:R513Q	R	-	2	0	SCRIB	144963869	1.000000	0.71417	0.892000	0.35008	0.125000	0.20455	4.335000	0.59298	2.249000	0.74217	0.401000	0.26515	CGG	SCRIB-002	NOVEL	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382214.2		-	ENST00000356994.2	Missense_Mutation	SNP	8 : 144891881 - 144891881 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	354	67
SERPINC1	462	broad.mit.edu	37	1	173876629	173876629	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:173876629C>A	ENST00000367698.3	-	6	1295	c.1177G>T	c.(1177-1179)Gac>Tac	p.D393Y		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	393					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	ACATAGAGGTCATCTCGGCCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													253	232	239			NA	NA	1		NA											NA				173876629		2203	4300	6503	SO:0001583	missense			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601	462	462		Serine (or cysteine) peptidase inhibitors	775	protein-coding gene	gene with protein product	antithrombin III, signal peptide antithrombin part 1, coding sequence signal peptide antithrombin part 1, antithrombin (aa 375-432)	107300	serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1	AT3	NA	3979120, 24172014	Standard	NM_000488	NM_000488	NA	Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1177G>T	1.37:g.173876629C>A	ENSP00000356671:p.Asp393Tyr	NA	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	37	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333334	0.24167	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.83837	-1.77	5.98	3.06	0.35304	Serpin domain (3);	0.500387	0.24154	N	0.041055	T	0.73923	0.3649	M	0.84948	2.725	0.37608	D	0.920818	B	0.27264	0.173	B	0.19391	0.025	T	0.75578	-0.3269	10	0.72032	D	0.01	.	8.898	0.35476	0.1214:0.7482:0.0:0.1304	.	393	P01008	ANT3_HUMAN	Y	393;188	ENSP00000356671:D393Y	ENSP00000307953:D188Y	D	-	1	0	SERPINC1	172143252	0.997000	0.39634	0.230000	0.23976	0.173000	0.22820	3.778000	0.55371	0.858000	0.35431	0.650000	0.86243	GAC	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090734.1		-	ENST00000367698.3	Missense_Mutation	SNP	1 : 173876629 - 173876629 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1073	11
SETMAR	6419	broad.mit.edu	37	3	4345079	4345079	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:4345079A>G	ENST00000425863.1	+	1	25	c.25A>G	c.(25-27)Aca>Gca	p.T9A	SETMAR_ENST00000358065.4_Missense_Mutation_p.T9A|SETMAR_ENST00000430981.1_Missense_Mutation_p.T9A|SUMF1_ENST00000534863.1_Intron	NM_001243723.1	NP_001230652.1	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	0	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCAAAGACGACACGGCCTTG	0.647		NA						Chromatin Structure						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	35	36			NA	NA	3		NA											NA				4345079		2203	4300	6503	SO:0001583	missense			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364	6419	6419			10762	protein-coding gene	gene with protein product		609834			NA	9461395	Standard	NM_006515	NM_006515	NA	Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000425863.1:c.25A>G	3.37:g.4345079A>G	ENSP00000403145:p.Thr9Ala	NA	Q13579|Q1G668|Q96F41	37	CCDS58814.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238717	0.22711	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	D;D;T	0.95001	-3.52;-3.58;0.6	2.53	1.28	0.21552	.	.	.	.	.	D	0.85673	0.5751	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.71735	-0.4503	7	0.07644	T	0.81	.	5.2353	0.15443	0.6963:0.3037:0.0:0.0	.	.	.	.	A	9	ENSP00000373354:T9A;ENSP00000403000:T9A;ENSP00000403145:T9A	ENSP00000373354:T9A	T	+	1	0	SETMAR	4320079	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.084000	0.17077	0.482000	0.46254	ACA	SETMAR-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337909.4		+	ENST00000425863.1	Missense_Mutation	SNP	3 : 4345079 - 4345079 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	58	14
SGK1	6446	broad.mit.edu	37	6	134493456	134493460	+	Splice_Site	DEL	TGTAA	TGTAA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	TGTAA	TGTAA	-	-	TGTAA	TGTAA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:134493456_134493460delTGTAA	ENST00000367858.5	-	10	1545		c.e10-2		SGK1_ENST00000367857.5_Splice_Site|SGK1_ENST00000413996.3_Splice_Site|SGK1_ENST00000475719.2_Splice_Site|SGK1_ENST00000237305.7_Splice_Site|SGK1_ENST00000489458.2_Splice_Site|SGK1_ENST00000528577.1_Splice_Site	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	NA					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TTTAAGTCTCTGTAAAAAAGTGAAT	0.356		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			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515	6446	6446			10810	protein-coding gene	gene with protein product		602958	serum/glucocorticoid regulated kinase	SGK	NA	9114008, 9722955	Standard		NM_005627	NA	Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367858.5:c.948-2TTACA>-	6.37:g.134493456_134493460delTGTAA		NA	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	37	CCDS47476.1																																																																																			SGK1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042304.2	Intron	-	ENST00000367858.5	Splice_Site	DEL	6 : 134493456 - 134493460 - PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	311	82
SLCO1B3	28234	broad.mit.edu	37	12	21054322	21054322	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:21054322G>T	ENST00000381545.3	+	15	2005	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D596Y|LST3_ENST00000540229.1_Missense_Mutation_p.D596Y|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D596Y|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	596					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.D596N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGCTCTGATTGATAAAACATG	0.378		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)											183	177	179			NA	NA	12		NA											NA				21054322		2203	4300	6503	SO:0001583	missense				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700	28234	28234		Solute carriers	10961	protein-coding gene	gene with protein product		605495	solute carrier family 21 (organic anion transporter), member 8	SLC21A8	NA		Standard	NM_019844	NM_019844	NA	Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1786G>T	12.37:g.21054322G>T	ENSP00000370956:p.Asp596Tyr	NA		37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	18.03	3.532134	0.64972	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.53	4.53	0.55603	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93337	0.6706	10	0.87932	D	0	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	596;596;596	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	Y	596;596;596;420;596	ENSP00000261196:D596Y;ENSP00000370956:D596Y;ENSP00000451758:D596Y;ENSP00000443225:D420Y;ENSP00000441269:D596Y	ENSP00000441269:D596Y	D	+	1	0	SLCO1B3;RP11-545J16.1	20945589	1.000000	0.71417	0.991000	0.47740	0.756000	0.42949	7.840000	0.86819	2.213000	0.71641	0.313000	0.20887	GAT	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401936.1		+	ENST00000381545.3	Missense_Mutation	SNP	12 : 21054322 - 21054322 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	703	167
SMAD4	4089	broad.mit.edu	37	18	48591891	48591891	+	Nonsense_Mutation	SNP	G	G	T	rs121912581		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:48591891G>T	ENST00000588745.1	+	5	766	c.766G>T	c.(766-768)Gga>Tga	p.G256*	SMAD4_ENST00000342988.3_Nonsense_Mutation_p.G352*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*			Q13485	SMAD4_HUMAN	SMAD family member 4	352					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACTGTTGATGGATACGTGGA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	GRCh37	CM024126	SMAD4	M	rs121912581						237	199	212			NA	NA	18		NA											NA				48591891		2203	4300	6503	SO:0001587	stop_gained			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.766G>T	18.37:g.48591891G>T	ENSP00000464901:p.Gly256*	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	43	10.484127	0.99413	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.048668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000341551:G352X	G	+	1	0	SMAD4	46845889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.676000	0.98643	2.771000	0.95319	0.563000	0.77884	GGA	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Nonsense_Mutation	SNP	18 : 48591891 - 48591891 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	384	135
SPPL2A	84888	broad.mit.edu	37	15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	460						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AGGTTGCCCCTTTTTCATCAG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(50;790 1209 4069 22965 33125)							NA				0													128	111	117			NA	NA	15		NA											NA				51012246		2196	4294	6490	SO:0001583	missense				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600	84888	84888			30227	protein-coding gene	gene with protein product	intramembrane protease 3, presenilin-like protein 2	608238			NA	12077416, 12139484	Standard	NM_032802	NM_032802	NA	Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1379A>G	15.37:g.51012246T>C	ENSP00000261854:p.Lys460Arg	NA	B2RDS0|Q8TAW1|Q96SZ8	37	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	5.356	0.250885	0.10130	.	.	ENSG00000138600	ENST00000261854	T	0.17054	2.3	5.66	4.52	0.55395	.	0.218396	0.51477	D	0.000088	T	0.06508	0.0167	N	0.04746	-0.17	0.20638	N	0.999871	P	0.41475	0.751	B	0.40982	0.345	T	0.14671	-1.0464	10	0.12766	T	0.61	-3.5127	1.9865	0.03437	0.2572:0.0784:0.1375:0.5268	.	460	Q8TCT8	PSL2_HUMAN	R	460	ENSP00000261854:K460R	ENSP00000261854:K460R	K	-	2	0	AC012100.1	48799538	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	2.041000	0.41213	0.955000	0.37878	0.477000	0.44152	AAG	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254543.3		-	ENST00000261854.5	Missense_Mutation	SNP	15 : 51012246 - 51012246 C PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	433	5
SRL	6345	broad.mit.edu	37	16	4245590	4245590	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:4245590G>A	ENST00000399609.3	-	5	586	c.574C>T	c.(574-576)Cca>Tca	p.P192S	SRL_ENST00000537996.1_Missense_Mutation_p.P150S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	651	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ATGATGCCTGGTGTATCCACA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	138	139			NA	NA	16		NA											NA				4245590		1915	4135	6050	SO:0001583	missense			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739	6345	6345			11295	protein-coding gene	gene with protein product		604992			NA	2762314	Standard	XM_064152	NM_001098814	NA	Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.574C>T	16.37:g.4245590G>A	ENSP00000382518:p.Pro192Ser	NA		37	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989453	0.93106	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.99769	-6.7;-6.7	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.99880	0.9943	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96581	0.9430	10	0.72032	D	0.01	-8.2552	19.0659	0.93110	0.0:0.0:1.0:0.0	.	192	Q86TD4-2	.	S	192;650;150	ENSP00000382518:P192S;ENSP00000440350:P150S	ENSP00000333285:P650S	P	-	1	0	SRL	4185591	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.567000	0.98161	2.797000	0.96272	0.655000	0.94253	CCA	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438087.1		-	ENST00000399609.3	Missense_Mutation	SNP	16 : 4245590 - 4245590 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	848	231
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:83776476C>T	ENST00000379390.6	+	1	153	c.44C>T	c.(43-45)tCg>tTg	p.S15L	TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15L|TM6SF1_ENST00000322019.9_Missense_Mutation_p.S15L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral to membrane		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	urinary_tract(1)											29	27	27			NA	NA	15		NA											NA				83776476		2200	4300	6500	SO:0001583	missense			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404	53346	53346			11860	protein-coding gene	gene with protein product		606562			NA	11124529	Standard	NM_023003	NM_001144903	NA	Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000379390.6:c.44C>T	15.37:g.83776476C>T	ENSP00000368700:p.Ser15Leu	NA	A8K7T5	37		.	.	.	.	.	.	.	.	.	.	C	14.92	2.678630	0.47886	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.12	2.19	0.27852	.	0.244473	0.31847	U	0.006973	T	0.18551	0.0445	N	0.11927	0.2	0.28287	N	0.923729	B;B;B	0.16802	0.008;0.017;0.019	B;B;B	0.11329	0.002;0.002;0.006	T	0.12192	-1.0557	10	0.40728	T	0.16	-5.543	7.7752	0.29033	0.0:0.8663:0.0:0.1337	.	15;15;15	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	L	15	ENSP00000317000:S15L;ENSP00000368696:S15L;ENSP00000368693:S15L;ENSP00000368700:S15L;ENSP00000258909:S15L	ENSP00000258909:S15L	S	+	2	0	TM6SF1	81567480	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.405000	0.52630	0.318000	0.23185	0.306000	0.20318	TCG	TM6SF1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000419710.1		+	ENST00000379390.6	Missense_Mutation	SNP	15 : 83776476 - 83776476 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	126	10
TRAK1	22906	broad.mit.edu	37	3	42251664	42251664	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:42251664C>A	ENST00000341421.3	+	13	2169	c.1976C>A	c.(1975-1977)gCa>gAa	p.A659E	TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TTCCCGGAGGCAGAGTTTTGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(44;195 884 22595 31865 41850)							NA				0													224	240	235			NA	NA	3		NA											NA				42251664		2203	4300	6503	SO:0001583	missense				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606	22906	22906			29947	protein-coding gene	gene with protein product	OGT(O Glc NAc transferase) interacting protein 106 KDa, O-linked N-acetylglucosamine transferase interacting protein 106, milton homolog 1 (Drosophila)	608112			NA	10470851, 12435728, 16380713, 20230862	Standard	NM_014965	NM_014965	NA	Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000341421.3:c.1976C>A	3.37:g.42251664C>A	ENSP00000340702:p.Ala659Glu	NA	Q63HR0|Q96B69	37	CCDS2695.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566527	0.45694	.	.	ENSG00000182606	ENST00000341421	T	0.09723	2.95	5.11	4.22	0.49857	.	.	.	.	.	T	0.06280	0.0162	N	0.14661	0.345	0.20307	N	0.999916	.	.	.	.	.	.	T	0.32241	-0.9914	6	.	.	.	.	4.2065	0.10491	0.213:0.632:0.0:0.1549	.	.	.	.	E	659	ENSP00000340702:A659E	.	A	+	2	0	TRAK1	42226668	1.000000	0.71417	0.444000	0.26895	0.998000	0.95712	1.881000	0.39638	2.525000	0.85131	0.655000	0.94253	GCA	TRAK1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317460.1		+	ENST00000341421.3	Missense_Mutation	SNP	3 : 42251664 - 42251664 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1063	319
TRPM3	80036	broad.mit.edu	37	9	73151012	73151012	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:73151012C>T	ENST00000377111.2	-	26	4199				TRPM3_ENST00000377105.1_Missense_Mutation_p.D1520N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1523N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1533N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1688N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1665N|TRPM3_ENST00000377110.3_Missense_Mutation_p.D1661N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1510N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1520N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1533N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1523N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1520N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	NA						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CGCTGCCTGTCGAGTTTGTCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	226	231			NA	NA	9		NA											NA				73151012		2203	4300	6503	SO:0001627	intron_variant			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067	80036	80036		Voltage-gated ion channels / Transient receptor potential cation channels	17992	protein-coding gene	gene with protein product	melastatin 2	608961			NA	16382100	Standard	NM_206945	NM_206946	NA	Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3956-645G>A	9.37:g.73151012C>T		NA	A2A3F6|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.124476|4.124476	0.77436|0.77436	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T|.	0.56275|.	0.54;0.5;0.5;0.47;0.54;0.47;0.5;0.5;0.5;0.54|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.105878|.	0.64402|.	D|.	0.000005|.	T|T	0.58424|0.58424	0.2121|0.2121	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999996|0.999996	B;B;P;P;B;P;B|.	0.43352|.	0.33;0.37;0.804;0.509;0.33;0.641;0.222|.	B;B;B;B;B;B;B|.	0.27170|.	0.072;0.048;0.077;0.031;0.068;0.068;0.031|.	T|T	0.50988|0.50988	-0.8762|-0.8762	10|5	0.40728|.	T|.	0.16|.	-25.7037|-25.7037	19.9981|19.9981	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1661;1651;1665;1523;1520;1633;1520|.	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.|.	N|Q	1661;1533;1523;1520;1665;1520;1520;1533;1523;1688|1509	ENSP00000366314:D1661N;ENSP00000366310:D1533N;ENSP00000354066:D1523N;ENSP00000366309:D1520N;ENSP00000350140:D1665N;ENSP00000386127:D1520N;ENSP00000379581:D1520N;ENSP00000379587:D1533N;ENSP00000350791:D1523N;ENSP00000389542:D1688N|.	ENSP00000350140:D1665N|.	D|R	-|-	1|2	0|0	TRPM3|TRPM3	72340832|72340832	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.883000|0.883000	0.51084|0.51084	7.263000|7.263000	0.78421|0.78421	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAC|CGA	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000214157.5		-	ENST00000377111.2	Intron	SNP	9 : 73151012 - 73151012 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1233	11
TTN	7273	broad.mit.edu	37	2	179598237	179598237	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:179598237G>T	ENST00000589042.1	-	54	16007	c.15783C>A	c.(15781-15783)gcC>gcA	p.A5261A	TTN_ENST00000342992.6_Silent_p.A4017A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A4944A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4944	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGATTTTGGCAGGTTCTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	219	219			NA	NA	2		NA											NA				179598237		1928	4134	6062	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.15783C>A	2.37:g.179598237G>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179598237 - 179598237 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	1193	14
TUBB8	347688	broad.mit.edu	37	10	93379	93379	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:93379C>T	ENST00000309812.4	-	4	1015	c.953G>A	c.(952-954)aGg>aAg	p.R318K	TUBB8_ENST00000447903.2_Missense_Mutation_p.R246K	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	318					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATGCGACCCCTGAAAATGGC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(192;2041 3010 9013 18103)							NA				0													53	65	61			NA	NA	10		NA											NA				93379		2063	4015	6078	SO:0001583	missense			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876		347688	347688		Tubulins	20773	protein-coding gene	gene with protein product	class VIII beta-tubulin				NA		Standard	NM_177987	NM_177987	NA	Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.953G>A	10.37:g.93379C>T	ENSP00000311042:p.Arg318Lys	NA	Q5SQX9|Q8WZ78	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	8.893	0.954474	0.18431	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.83591	-1.74	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	U	0.000030	T	0.74245	0.3691	N	0.03608	-0.345	0.29492	N	0.855587	B;P	0.40476	0.164;0.718	B;P	0.59171	0.123;0.853	T	0.68977	-0.5267	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	281;318	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	K	246;284;281;318	ENSP00000403895:R246K	ENSP00000272035:R284K	R	-	2	0	RP11-631M21.2	83379	0.996000	0.38824	0.111000	0.21465	0.112000	0.19704	5.248000	0.65421	0.119000	0.18210	0.121000	0.15741	AGG	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467795.1		-	ENST00000309812.4	Missense_Mutation	SNP	10 : 93379 - 93379 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	782	9
WNT2B	7482	broad.mit.edu	37	1	113059836	113059836	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:113059836C>T	ENST00000369686.5	+	5	822	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	WNT2B_ENST00000256640.5_Missense_Mutation_p.R167C|WNT2B_ENST00000369684.4_Missense_Mutation_p.R259C	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	NA					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCAGATTTCCGCCGCACAGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	57	61			NA	NA	1		NA											NA				113059836		2203	4300	6503	SO:0001583	missense			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245	7482	7482		Wingless-type MMTV integration sites	12781	protein-coding gene	gene with protein product	XWNT2, Xenopus, homolog of, wingless-type MMTV integration site family, member 13	601968		WNT13	NA	8761309, 10944466	Standard	NM_004185	NM_024494	NA	Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369686.5:c.718C>T	1.37:g.113059836C>T	ENSP00000358700:p.Arg240Cys	NA	O14903|Q5TEI2|Q9HDC1|Q9HDC2	37	CCDS846.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659360	0.88154	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.78924	-1.22;-1.22;-1.22	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.93785	0.7087	10	0.87932	D	0	.	19.0601	0.93090	0.0:1.0:0.0:0.0	.	259;240	Q93097;Q93097-2	WNT2B_HUMAN;.	C	167;240;259	ENSP00000256640:R167C;ENSP00000358700:R240C;ENSP00000358698:R259C	ENSP00000256640:R167C	R	+	1	0	WNT2B	112861359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.367000	0.52350	2.599000	0.87857	0.555000	0.69702	CGC	WNT2B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030691.2		+	ENST00000369686.5	Missense_Mutation	SNP	1 : 113059836 - 113059836 T PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	313	72
ZNF451	26036	broad.mit.edu	37	6	57018799	57018799	+	Silent	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:57018799A>G	ENST00000370706.4	+	13	3268	c.3024A>G	c.(3022-3024)ggA>ggG	p.G1008G	RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Silent_p.G960G|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000491832.2_Silent_p.G1008G|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	1008					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTTAGAGGGAGATATGATGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	84	85			NA	NA	6		NA											NA				57018799		2203	4300	6503	SO:0001819	synonymous_variant			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200	26036	26036		Zinc fingers, C2H2-type	21091	protein-coding gene	gene with protein product		615708			NA	9628581	Standard	NM_015555	NM_001031623	NA	Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.3024A>G	6.37:g.57018799A>G		NA	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	37	CCDS43477.1																																																																																			ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041035.2		+	ENST00000370706.4	Silent	SNP	6 : 57018799 - 57018799 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	501	124
ZNF516	9658	broad.mit.edu	37	18	74154961	74154961	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:74154961G>A	ENST00000443185.2	-	3	367	c.50C>T	c.(49-51)cCc>cTc	p.P17L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCTGGTGGGGCTGGGGCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	21	20			NA	NA	18		NA											NA				74154961		1997	4158	6155	SO:0001583	missense			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493	9658	9658		Zinc fingers, C2H2-type	28990	protein-coding gene	gene with protein product		615114			NA	9039502	Standard	NM_014643	NM_014643	NA	Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.50C>T	18.37:g.74154961G>A	ENSP00000394757:p.Pro17Leu	NA		37		.	.	.	.	.	.	.	.	.	.	G	19.43	3.825265	0.71143	.	.	ENSG00000101493	ENST00000443185;ENST00000532857	T;T	0.11495	2.77;3.12	4.3	4.3	0.51218	.	0.095548	0.43919	D	0.000509	T	0.16514	0.0397	.	.	.	0.58432	D	0.999994	D	0.76494	0.999	D	0.64144	0.922	T	0.01757	-1.1280	9	0.02654	T	1	-13.6921	15.3131	0.74053	0.0:0.0:1.0:0.0	.	17	Q92618	ZN516_HUMAN	L	17	ENSP00000394757:P17L;ENSP00000446211:P17L	ENSP00000394757:P17L	P	-	2	0	ZNF516	72283949	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.885000	0.69736	2.106000	0.64143	0.561000	0.74099	CCC	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding			-	ENST00000443185.2	Missense_Mutation	SNP	18 : 74154961 - 74154961 A PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	76	22
ZNF99	7652	broad.mit.edu	37	19	22940484	22940484	+	Missense_Mutation	SNP	T	T	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:22940484T>G	ENST00000596209.1	-	4	2317	c.2227A>C	c.(2227-2229)Aag>Cag	p.K743Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.K652Q	NM_001080409.2	NP_001073878.2			zinc finger protein 99	NA										NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAGGACCACTTAAAAGCTTTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	25	25			NA	NA	19		NA											NA				22940484		1858	3964	5822	SO:0001583	missense			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973	7652	7652		Zinc fingers, C2H2-type, -	13175	protein-coding gene	gene with protein product		603981	zinc finger protein 99 (F8281), chromosome 19 open reading frame 9	C19orf9	NA		Standard	XM_065124	NM_001080409	NA	Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2227A>C	19.37:g.22940484T>G	ENSP00000472969:p.Lys743Gln	NA		37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	1.065	-0.671716	0.03403	.	.	ENSG00000213973	ENST00000397104	T	0.07444	3.19	0.726	-0.421	0.12332	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	L	0.38733	1.17	0.09310	N	1	B	0.25351	0.124	B	0.23574	0.047	T	0.34254	-0.9836	9	0.37606	T	0.19	.	6.7913	0.23701	0.0:0.0:0.6032:0.3968	.	652	A8MXY4	ZNF99_HUMAN	Q	652	ENSP00000380293:K652Q	ENSP00000380293:K652Q	K	-	1	0	ZNF99	22732324	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.627000	0.02033	-2.012000	0.00950	-3.094000	0.00064	AAG	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464591.1		-	ENST00000596209.1	Missense_Mutation	SNP	19 : 22940484 - 22940484 G PAAD-TCGA-S4-A8RP-Tumor-SM-5KWXT	320	5
