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
ADAMTS4	9507	broad.mit.edu	37	1	161166318	161166318	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:161166318A>T	ENST00000367995.3	-	2	1411	c.986T>A	c.(985-987)aTg>aAg	p.M329K	ADAMTS4_ENST00000367996.5_Intron			O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	0	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			tgtgcagtgcatggcctgcGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	89	88			NA	NA	1		NA											NA				161166318		2203	4300	6503	SO:0001583	missense			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859	9507	9507		ADAM metallopeptidases with thrombospondin type 1 motif	220	protein-coding gene	gene with protein product		603876	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4		NA	10094461	Standard	NM_005099	NM_005099	NA	Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367995.3:c.986T>A	1.37:g.161166318A>T	ENSP00000356974:p.Met329Lys	NA	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	37		.	.	.	.	.	.	.	.	.	.	A	4.234	0.042409	0.08196	.	.	ENSG00000158859	ENST00000367995	T	0.61742	0.08	3.83	-7.65	0.01281	.	.	.	.	.	T	0.15089	0.0364	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.02909	-1.1095	8	0.40728	T	0.16	.	5.405	0.16316	0.3415:0.1353:0.4461:0.0771	.	329	Q5VTW1	.	K	329	ENSP00000356974:M329K	ENSP00000356974:M329K	M	-	2	0	ADAMTS4	159432942	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.168000	0.00281	-3.522000	0.00147	-0.411000	0.06167	ATG	ADAMTS4-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000083067.1		-	ENST00000367995.3	Missense_Mutation	SNP	1 : 161166318 - 161166318 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	386	22
ADCY9	115	broad.mit.edu	37	16	4163864	4163864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:4163864C>T	ENST00000294016.3	-	2	2118	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	527					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGAACTTTGCCGGCCACTCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	101	100			NA	NA	16		NA											NA				4163864		2197	4300	6497	SO:0001583	missense			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	115	115	4.6.1.1	Adenylate cyclases	240	protein-coding gene	gene with protein product		603302			NA	9628827	Standard		NM_001116	NA	Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1580G>A	16.37:g.4163864C>T	ENSP00000294016:p.Gly527Asp	NA	A7E2V5|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018606	0.75275	.	.	ENSG00000162104	ENST00000294016	D	0.86562	-2.14	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.93713	0.7991	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94090	0.7352	10	0.72032	D	0.01	.	19.2017	0.93713	0.0:1.0:0.0:0.0	.	527	O60503	ADCY9_HUMAN	D	527	ENSP00000294016:G527D	ENSP00000294016:G527D	G	-	2	0	ADCY9	4103865	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.818000	0.86416	2.552000	0.86080	0.555000	0.69702	GGC	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438076.1		-	ENST00000294016.3	Missense_Mutation	SNP	16 : 4163864 - 4163864 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	536	5
AMPD1	270	broad.mit.edu	37	1	115217379	115217379	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:115217379T>A	ENST00000369538.3	-	12	1928	c.1881A>T	c.(1879-1881)ttA>ttT	p.L627F	AMPD1_ENST00000520113.2_Missense_Mutation_p.L631F|AMPD1_ENST00000353928.6_Missense_Mutation_p.L598F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	598					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L598F(2)|p.L631F(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACCTTTTTTAAATTTAGGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	endometrium(2)|pancreas(1)						T	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	85	85	85		1893,1881	3.7	1	1		85	0,8600		0,0,4300	yes	missense,missense	AMPD1	NM_000036.2,NM_001172626.1	22,22	0,1,6502	AA,AT,TT	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	631/781,627/777	115217379	1,13005	2203	4300	6503	SO:0001583	missense			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	270	270	3.5.4.6		468	protein-coding gene	gene with protein product	AMPD isoform M, skeletal muscle AMPD	102770	adenosine monophosphate deaminase 1 (isoform M)		NA	1400401	Standard		NM_001172626	NA	Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000369538.3:c.1881A>T	1.37:g.115217379T>A	ENSP00000358551:p.Leu627Phe	NA	Q5TF00	37	CCDS53349.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552218	0.65311	2.27E-4	0.0	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.88046	-2.33;-2.33;-2.33	5.99	3.68	0.42216	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.92964	0.7761	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92592	0.6084	10	0.87932	D	0	-11.4622	6.2611	0.20901	0.0:0.2024:0.1353:0.6624	.	627;598	Q5TF02;P23109	.;AMPD1_HUMAN	F	631;627;598	ENSP00000430075:L631F;ENSP00000358551:L627F;ENSP00000316520:L598F	ENSP00000316520:L598F	L	-	3	2	AMPD1	115018902	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	0.599000	0.24089	1.100000	0.41517	0.533000	0.62120	TTA	AMPD1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032861.2		-	ENST00000369538.3	Missense_Mutation	SNP	1 : 115217379 - 115217379 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	309	10
AZGP1	563	broad.mit.edu	37	7	99565782	99565782	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:99565782C>T	ENST00000411734.1	-	3	605	c.600G>A	c.(598-600)cgG>cgA	p.R200R	AZGP1_ENST00000292401.4_Silent_p.R203R			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	203					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAGTACCTTGCCGGTCCAGGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	75	75			NA	NA	7		NA											NA				99565782		2203	4300	6503	SO:0001819	synonymous_variant			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862	563	563		Immunoglobulin superfamily / C1-set domain containing	910	protein-coding gene	gene with protein product		194460	alpha-2-glycoprotein 1, zinc		NA	2049092	Standard	NM_001185	NM_001185	NA	Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000411734.1:c.600G>A	7.37:g.99565782C>T		NA	D6W5T8|O60386|Q5XKQ4|Q8N4N0	37																																																																																				AZGP1-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000345055.1		-	ENST00000411734.1	Silent	SNP	7 : 99565782 - 99565782 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	279	5
CCDC80	151887	broad.mit.edu	37	3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGGGCAGCGCATCCCCAGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	101	108			NA	NA	3		NA											NA				112324383		2203	4300	6503	SO:0001583	missense			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986	151887	151887			30649	protein-coding gene	gene with protein product	steroid sensitive gene 1	608298			NA	15325258, 18178152	Standard	NM_199511	XM_005247135	NA	Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2734C>T	3.37:g.112324383G>A	ENSP00000206423:p.Arg912Cys	NA	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003686	0.74932	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368	T;T;T	0.52754	0.65;0.65;0.81	5.83	4.87	0.63330	.	0.099290	0.64402	D	0.000001	T	0.56978	0.2022	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	T	0.61038	-0.7143	10	0.87932	D	0	-11.0485	16.8142	0.85729	0.0:0.0:0.8076:0.1924	.	923;912	Q76M96-2;Q76M96	.;CCD80_HUMAN	C	912;912;513;190	ENSP00000206423:R912C;ENSP00000411814:R912C;ENSP00000418188:R190C	ENSP00000206423:R912C	R	-	1	0	CCDC80	113807073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.439000	0.66556	2.753000	0.94483	0.585000	0.79938	CGC	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354219.1		-	ENST00000206423.3	Missense_Mutation	SNP	3 : 112324383 - 112324383 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	279	5
CCNG1	900	broad.mit.edu	37	5	162868135	162868135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:162868135G>A	ENST00000512163.1	+	0	288				AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000393929.1_Missense_Mutation_p.V106I|CCNG1_ENST00000340828.2_Missense_Mutation_p.V106I			P51959	CCNG1_HUMAN	cyclin G1	NA					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TTATTTGGCTGTAAAATCAAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	96	97			NA	NA	5		NA											NA				162868135		2203	4300	6503	SO:0001623	5_prime_UTR_variant			D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328	900	900			1592	protein-coding gene	gene with protein product		601578		CCNG	NA	8954786, 8806701	Standard	NM_004060	NM_004060	NA	Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000512163.1:c.-87G>A	5.37:g.162868135G>A		NA	B2R7B2|D3DQK7|Q15757|Q96L32	37		.	.	.	.	.	.	.	.	.	.	G	20.5	3.994314	0.74703	.	.	ENSG00000113328	ENST00000393929;ENST00000340828;ENST00000510097;ENST00000511490	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.23	5.23	0.72850	Cyclin, N-terminal (1);Cyclin-like (3);	0.059163	0.64402	D	0.000002	T	0.24236	0.0587	L	0.35487	1.065	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.01448	-1.1352	10	0.32370	T	0.25	-0.1181	18.8052	0.92034	0.0:0.0:1.0:0.0	.	106	P51959	CCNG1_HUMAN	I	106	ENSP00000377506:V106I;ENSP00000344635:V106I;ENSP00000423791:V106I;ENSP00000421132:V106I	ENSP00000344635:V106I	V	+	1	0	CCNG1	162800713	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.189000	0.72051	2.444000	0.82710	0.655000	0.94253	GTA	CCNG1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372908.1		+	ENST00000512163.1	5'UTR	SNP	5 : 162868135 - 162868135 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	391	6
CDON	50937	broad.mit.edu	37	11	125871630	125871630	+	Silent	SNP	G	G	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:125871630G>C	ENST00000392693.3	-	11	2269	c.2142C>G	c.(2140-2142)tcC>tcG	p.S714S	CDON_ENST00000531738.1_Silent_p.S91S|CDON_ENST00000263577.7_Silent_p.S714S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	714					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTGCCTAGAGGAATCTGTAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	91	92			NA	NA	11		NA											NA				125871630		2201	4299	6500	SO:0001819	synonymous_variant			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309	50937	50937		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	17104	protein-coding gene	gene with protein product	cell adhesion molecule-related/down-regulated by oncogenes	608707	Cdon homolog (mouse)		NA	9214393	Standard	NM_016952	NM_016952	NA	Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2142C>G	11.37:g.125871630G>C		NA	O14631	37	CCDS58192.1																																																																																			CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386749.2		-	ENST00000392693.3	Silent	SNP	11 : 125871630 - 125871630 C PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	410	20
CDSN	1041	broad.mit.edu	37	6	31084842	31084842	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:31084842G>A	ENST00000376288.2	-	2	576	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	184	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGTATTCCGCGGTAAGAGTTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	79	77			NA	NA	6		NA											NA				31084842		2203	4300	6503	SO:0001583	missense			AF030130	CCDS34389.1	6p21.3	2008-07-29			ENSG00000204539	ENSG00000204539	1041	1041			1802	protein-coding gene	gene with protein product		602593			NA	9395522, 8415725	Standard		NM_001264	NA	Approved	D6S586E	uc003nsm.2	Q15517	OTTHUMG00000031150	ENST00000376288.2:c.550C>T	6.37:g.31084842G>A	ENSP00000365465:p.Arg184Cys	NA	B0S7V2|B0UYZ7|O43509|Q5SQ85|Q5STD2|Q7LA70|Q7LA71|Q86Z04|Q8IZU4|Q8IZU5|Q8IZU6|Q8N5P3|Q95IF9|Q9NP52|Q9NPE0|Q9NPG5|Q9NRH4|Q9NRH5|Q9NRH6|Q9NRH7|Q9NRH8|Q9UBH8|Q9UIN6|Q9UIN7|Q9UIN8|Q9UIN9|Q9UIP0	37	CCDS34389.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542433	0.27563	.	.	ENSG00000204539	ENST00000376288	T	0.06449	3.3	3.43	2.46	0.29980	.	0.549745	0.13950	U	0.351580	T	0.03434	0.0099	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.54924	0.764	T	0.42447	-0.9451	10	0.72032	D	0.01	-4.3945	8.3178	0.32111	0.0:0.0:0.7665:0.2335	.	184	Q15517	CDSN_HUMAN	C	184	ENSP00000365465:R184C	ENSP00000365465:R184C	R	-	1	0	CDSN	31192821	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.590000	0.23954	1.631000	0.50456	0.448000	0.29417	CGC	CDSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076275.2		-	ENST00000376288.2	Missense_Mutation	SNP	6 : 31084842 - 31084842 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	352	4
CNTN6	27255	broad.mit.edu	37	3	1415695	1415695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:1415695G>A	ENST00000446702.2	+	16	2660	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D	CNTN6_ENST00000539053.1_Missense_Mutation_p.G606D|CNTN6_ENST00000350110.2_Missense_Mutation_p.G678D			Q9UQ52	CNTN6_HUMAN	contactin 6	678	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G678D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTGTTGCCGGCAACAGCATT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											137	131	133			NA	NA	3		NA											NA				1415695		2203	4300	6503	SO:0001583	missense			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115	27255	27255		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	2176	protein-coding gene	gene with protein product	neural adhesion molecule	607220			NA	9486763	Standard	NM_014461	NM_014461	NA	Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2033G>A	3.37:g.1415695G>A	ENSP00000407822:p.Gly678Asp	NA	Q2KHM2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535149	0.45073	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.56776	0.44;0.44;0.44	4.84	3.89	0.44902	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.107766	0.41823	D	0.000811	T	0.50017	0.1591	L	0.29908	0.895	0.19300	N	0.999973	D	0.54772	0.968	P	0.54629	0.757	T	0.36432	-0.9748	10	0.42905	T	0.14	.	10.0485	0.42201	0.0:0.1484:0.6981:0.1535	.	678	Q9UQ52	CNTN6_HUMAN	D	678;606;678	ENSP00000407822:G678D;ENSP00000442791:G606D;ENSP00000341882:G678D	ENSP00000341882:G678D	G	+	2	0	CNTN6	1390695	0.938000	0.31826	0.999000	0.59377	0.985000	0.73830	2.160000	0.42348	2.379000	0.81126	0.655000	0.94253	GGC	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239235.2		+	ENST00000446702.2	Missense_Mutation	SNP	3 : 1415695 - 1415695 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	383	5
CXXC4	80319	broad.mit.edu	37	4	105412405	105412405	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:105412405C>T	ENST00000394767.2	-	2	1005	c.555G>A	c.(553-555)ccG>ccA	p.P185P	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Silent_p.P16P|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	16					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ACGGCTCTGGCGGGCAGCCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	98	93			NA	NA	4		NA											NA				105412405		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772	80319	80319			24593	protein-coding gene	gene with protein product	Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)	611645			NA	11113207	Standard	NM_025212	NM_025212	NA	Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000394767.2:c.555G>A	4.37:g.105412405C>T		NA		37	CCDS3665.2																																																																																			CXXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253799.3		-	ENST00000394767.2	Silent	SNP	4 : 105412405 - 105412405 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	885	6
DDN	23109	broad.mit.edu	37	12	49391585	49391585	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:49391585C>T	ENST00000421952.2	-	2	1095	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	358	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GAGCGGGATGCGGGGCACAGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	38	38			NA	NA	12		NA											NA				49391585		2203	4300	6503	SO:0001819	synonymous_variant			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418	23109	23109			24458	protein-coding gene	gene with protein product		610588			NA		Standard		NM_015086	NA	Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1074G>A	12.37:g.49391585C>T		NA		37	CCDS31791.2																																																																																			DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343335.1		-	ENST00000421952.2	Silent	SNP	12 : 49391585 - 49391585 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	260	4
DOLK	22845	broad.mit.edu	37	9	131708515	131708515	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:131708515C>T	ENST00000372586.3	-	1	1383	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	356					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						AGAGCAGTGGCCGGTCAAAGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	107	121	116		1068	-0.6	0.9	9		116	0,8600		0,0,4300	no	coding-synonymous	DOLK	NM_014908.3		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		356/539	131708515	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283	22845	22845			23406	protein-coding gene	gene with protein product	dolichol kinase 1	610746	transmembrane protein 15	TMEM15	NA	12975309, 16923818	Standard	NM_014908	NM_014908	NA	Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1068G>A	9.37:g.131708515C>T		NA	Q5SRE6	37	CCDS6915.1																																																																																			DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054515.1		-	ENST00000372586.3	Silent	SNP	9 : 131708515 - 131708515 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	714	7
DSCAML1	57453	broad.mit.edu	37	11	117307881	117307881	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:117307881G>A	ENST00000321322.6	-	26	4858	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	DSCAML1_ENST00000527706.1_Silent_p.C1349C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1559					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.C1619C(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTCATTGCCGCAGCCCGCAC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)						G		0,4402		0,0,2201	88	82	84		4857	-1.2	1	11		84	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	DSCAML1	NM_020693.2		0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077		1619/2114	117307881	1,12993	2201	4296	6497	SO:0001819	synonymous_variant				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4857C>T	11.37:g.117307881G>A		NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1																																																																																			DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Silent	SNP	11 : 117307881 - 117307881 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	399	6
FLG	2312	broad.mit.edu	37	1	152282688	152282688	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:152282688C>T	ENST00000368799.1	-	3	4709	c.4674G>A	c.(4672-4674)ggG>ggA	p.G1558G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1558	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGACGTGACCCTGAGTGCC	0.592		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	235	235			NA	NA	1		NA											NA				152282688		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4674G>A	1.37:g.152282688C>T		NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1																																																																																			FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Silent	SNP	1 : 152282688 - 152282688 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	1484	71
GRIK4	2900	broad.mit.edu	37	11	120769305	120769305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:120769305C>T	ENST00000527524.2	+	12	1516	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	GRIK4_ENST00000438375.2_Missense_Mutation_p.S410L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	410					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCCAACATCTCGGACACTCTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	141	166			NA	NA	11		NA											NA				120769305		2203	4299	6502	SO:0001583	missense			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403	2900	2900		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4582	protein-coding gene	gene with protein product		600282		GRIK	NA		Standard	NM_014619	NM_001282470	NA	Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1229C>T	11.37:g.120769305C>T	ENSP00000435648:p.Ser410Leu	NA	A8K9L1	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523560	0.44866	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13657	2.57;2.57	5.03	5.03	0.67393	.	0.297347	0.40385	N	0.001116	T	0.17195	0.0413	M	0.62723	1.935	0.51767	D	0.99993	B;P	0.39376	0.239;0.67	B;B	0.31869	0.078;0.137	T	0.04360	-1.0957	10	0.72032	D	0.01	.	18.3623	0.90379	0.0:1.0:0.0:0.0	.	410;410	A6H8K8;Q16099	.;GRIK4_HUMAN	L	410	ENSP00000435648:S410L;ENSP00000404063:S410L	ENSP00000404063:S410L	S	+	2	0	GRIK4	120274515	1.000000	0.71417	0.907000	0.35723	0.018000	0.09664	7.480000	0.81109	2.323000	0.78572	0.462000	0.41574	TCG	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109760.4		+	ENST00000527524.2	Missense_Mutation	SNP	11 : 120769305 - 120769305 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	167	8
HMGXB4	10042	broad.mit.edu	37	22	35660888	35660888	+	Silent	SNP	G	G	A	rs148445726		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:35660888G>A	ENST00000216106.5	+	5	635	c.507G>A	c.(505-507)tcG>tcA	p.S169S	HMGXB4_ENST00000444518.2_Silent_p.S60S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	169					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCACAAATCGAAAAAAATGA	0.463		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9135	EXOME	NA	NA	7e-04	SNP								NA				0								G		1,4405		0,1,2202	84	85	85		507	1.3	1	22	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	HMGXB4	NM_001003681.2		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		169/602	35660888	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281	10042	10042		High mobility group / Non-canonical	5003	protein-coding gene	gene with protein product		604702	high-mobility group protein 2-like 1	HMG2L1	NA	10329004, 10591208, 20511232	Standard	NM_005487	NM_001003681	NA	Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.507G>A	22.37:g.35660888G>A		NA	O75672|O75673|Q9UMT5	37	CCDS33641.1																																																																																			HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318104.2		+	ENST00000216106.5	Silent	SNP	22 : 35660888 - 35660888 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	412	16
ITFG1	81533	broad.mit.edu	37	16	47195677	47195677	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:47195677G>A	ENST00000320640.6	-	16	1873	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.H436Y|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	549						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GGGACATTGTGAGGGTATGGA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	184	191			NA	NA	16		NA											NA				47195677		2202	4300	6502	SO:0001583	missense			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636	81533	81533			30697	protein-coding gene	gene with protein product	T cell immunomodulatory protein	611803			NA	12598909	Standard	NM_030790	NM_030790	NA	Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1645C>T	16.37:g.47195677G>A	ENSP00000319918:p.His549Tyr	NA	Q96SR4|Q9BRE2|Q9H2V9	37	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474395	0.63737	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.59	5.59	0.84812	.	0.050252	0.85682	D	0.000000	T	0.52948	0.1766	L	0.44542	1.39	0.80722	D	1	P;B	0.35612	0.512;0.225	B;B	0.37047	0.24;0.158	T	0.46247	-0.9205	9	0.16420	T	0.52	-18.2506	19.5992	0.95552	0.0:0.0:1.0:0.0	.	436;549	F5GXC5;Q8TB96	.;TIP_HUMAN	Y	549;209;294;436	.	ENSP00000319918:H549Y	H	-	1	0	ITFG1	45753178	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.229000	0.78088	2.640000	0.89533	0.467000	0.42956	CAC	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256768.3		-	ENST00000320640.6	Missense_Mutation	SNP	16 : 47195677 - 47195677 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	558	28
IZUMO1	284359	broad.mit.edu	37	19	49248495	49248495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49248495G>A	ENST00000332955.2	-	3	833	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	96					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCTGTGATGCGTTTCAGATCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	130	141			NA	NA	19		NA											NA				49248495		2203	4300	6503	SO:0001583	missense			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264	284359	284359		-	28539	protein-coding gene	gene with protein product	oocyte binding/fusion factor	609278			NA	15759005, 18952059, 19658160, 22957301	Standard	NM_182575	NM_182575	NA	Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.286C>T	19.37:g.49248495G>A	ENSP00000327786:p.Arg96Cys	NA	Q6Q8P6|Q6Q8P7	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951427	0.73787	.	.	ENSG00000182264	ENST00000332955	T	0.25749	1.78	5.1	2.88	0.33553	.	0.237333	0.30101	N	0.010409	T	0.42720	0.1215	L	0.59436	1.845	0.39381	D	0.966252	D	0.89917	1.0	D	0.97110	1.0	T	0.33727	-0.9857	10	0.87932	D	0	-9.5316	8.5236	0.33291	0.0:0.1681:0.6575:0.1744	.	96	Q8IYV9	IZUM1_HUMAN	C	96	ENSP00000327786:R96C	ENSP00000327786:R96C	R	-	1	0	IZUMO1	53940307	0.994000	0.37717	0.996000	0.52242	0.994000	0.84299	2.965000	0.49200	0.624000	0.30286	0.491000	0.48974	CGC	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466189.1		-	ENST00000332955.2	Missense_Mutation	SNP	19 : 49248495 - 49248495 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	368	16
JAM2	58494	broad.mit.edu	37	21	27066110	27066110	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr21:27066110G>T	ENST00000480456.1	+	4	834	c.284G>T	c.(283-285)cGg>cTg	p.R95L	JAM2_ENST00000312957.5_Missense_Mutation_p.R95L|JAM2_ENST00000400532.1_Missense_Mutation_p.R95L|JAM2_ENST00000425221.2_Missense_Mutation_p.R59L	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	95	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAATATCCGGATCAAAAAT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	130	131			NA	NA	21		NA											NA				27066110		1880	4109	5989	SO:0001583	missense			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721	58494	58494		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing	14686	protein-coding gene	gene with protein product		606870		C21orf43	NA	10779521, 10945976	Standard		NM_021219	NA	Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.284G>T	21.37:g.27066110G>T	ENSP00000420419:p.Arg95Leu	NA	B2R6T9|Q6UXG6|Q6YNC1	37	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802133	0.70682	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122923	0.52532	D	0.000074	T	0.69115	0.3075	L	0.47716	1.5	0.36013	D	0.838181	D;D;D;D;D	0.64830	0.983;0.994;0.994;0.992;0.987	P;D;D;P;P	0.65233	0.866;0.933;0.933;0.9;0.9	T	0.73078	-0.4096	10	0.44086	T	0.13	.	10.2808	0.43539	0.0869:0.0:0.9131:0.0	.	59;95;95;95;95	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	L	95;95;95;95;95;59	ENSP00000420419:R95L;ENSP00000383376:R95L;ENSP00000318416:R95L;ENSP00000392611:R59L	ENSP00000318416:R95L	R	+	2	0	JAM2	25987981	0.978000	0.34361	1.000000	0.80357	0.870000	0.49936	4.018000	0.57174	2.890000	0.99128	0.655000	0.94253	CGG	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171347.1		+	ENST00000480456.1	Missense_Mutation	SNP	21 : 27066110 - 27066110 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	259	11
KBTBD2	25948	broad.mit.edu	37	7	32909720	32909720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:32909720C>T	ENST00000304056.4	-	4	1808	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370								p.R370H(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGCTTTATGCGGACAAAAAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											147	135	139			NA	NA	7		NA											NA				32909720		2203	4300	6503	SO:0001583	missense			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852	25948	25948		BTB/POZ domain containing	21751	protein-coding gene	gene with protein product			BTB and kelch domain containing 1	BKLHD1	NA	10819331	Standard	XM_291224	NM_015483	NA	Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1109G>A	7.37:g.32909720C>T	ENSP00000302586:p.Arg370His	NA	A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	37	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661576	0.47572	.	.	ENSG00000170852	ENST00000304056	T	0.79554	-1.28	5.65	5.65	0.86999	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91717	0.5386	10	0.87932	D	0	.	20.0752	0.97739	0.0:1.0:0.0:0.0	.	370	Q8IY47	KBTB2_HUMAN	H	370	ENSP00000302586:R370H	ENSP00000302586:R370H	R	-	2	0	KBTBD2	32876245	1.000000	0.71417	0.964000	0.40570	0.951000	0.60555	7.445000	0.80570	2.826000	0.97356	0.491000	0.48974	CGC	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328890.1		-	ENST00000304056.4	Missense_Mutation	SNP	7 : 32909720 - 32909720 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	517	5
KCNB2	9312	broad.mit.edu	37	8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	60					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCCAGGACGCGCCTGGGGAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	67			NA	NA	8		NA											NA				73480147		2203	4300	6503	SO:0001583	missense			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674	9312	9312		Potassium channels, Voltage-gated ion channels / Potassium channels	6232	protein-coding gene	gene with protein product		607738			NA	9612272, 16382104	Standard	NM_004770	NM_004770	NA	Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.178C>T	8.37:g.73480147C>T	ENSP00000430846:p.Arg60Cys	NA	Q7Z7D0|Q9BXD3	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048690	0.75846	.	.	ENSG00000182674	ENST00000523207	T	0.78481	-1.18	5.71	4.84	0.62591	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.90703	0.7083	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91904	0.5534	9	0.87932	D	0	.	9.6813	0.40072	0.1398:0.7897:0.0:0.0705	.	60	Q92953	KCNB2_HUMAN	C	60	ENSP00000430846:R60C	ENSP00000430846:R60C	R	+	1	0	KCNB2	73642701	0.996000	0.38824	0.635000	0.29338	0.985000	0.73830	3.471000	0.53107	1.432000	0.47375	0.655000	0.94253	CGC	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378998.1		+	ENST00000523207.1	Missense_Mutation	SNP	8 : 73480147 - 73480147 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	454	28
KLHL25	64410	broad.mit.edu	37	15	86311613	86311613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:86311613C>T	ENST00000337975.5	-	2	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	KLHL25_ENST00000536947.1_Missense_Mutation_p.E477K|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	477						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGGGGGCACTCGGCCTTGATC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4404		0,0,2202	84	77	80		1429	5.7	1	15		80	1,8597	1.2+/-3.3	0,1,4298	no	missense	KLHL25	NM_022480.3	56	0,1,6500	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	477/590	86311613	1,13001	2202	4299	6501	SO:0001583	missense				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655	64410	64410		Kelch-like, BTB/POZ domain containing	25732	protein-coding gene	gene with protein product	ectodermal-neural cortex 2		kelch-like 25 (Drosophila)		NA		Standard	NM_022480	XM_006720635	NA	Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1429G>A	15.37:g.86311613C>T	ENSP00000336800:p.Glu477Lys	NA	B3KRT7	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745761	0.30955	0.0	1.16E-4	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.78003	-1.14;-1.14	5.71	5.71	0.89125	Kelch-type beta propeller (1);	0.056938	0.64402	D	0.000002	T	0.73877	0.3643	L	0.39147	1.195	0.44852	D	0.997868	B	0.28470	0.213	B	0.29862	0.108	T	0.71991	-0.4425	10	0.59425	D	0.04	.	18.8314	0.92141	0.0:1.0:0.0:0.0	.	477	Q9H0H3	ENC2_HUMAN	K	477;446;477	ENSP00000336800:E477K;ENSP00000444739:E477K	ENSP00000336800:E477K	E	-	1	0	KLHL25	84112617	0.990000	0.36364	0.993000	0.49108	0.257000	0.26127	3.248000	0.51430	2.700000	0.92200	0.462000	0.41574	GAG	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309023.1		-	ENST00000337975.5	Missense_Mutation	SNP	15 : 86311613 - 86311613 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	545	25
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	390	24
KRI1	65095	broad.mit.edu	37	19	10671101	10671101	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:10671101G>A	ENST00000312962.6	-	9	724	c.705C>T	c.(703-705)aaC>aaT	p.N235N	KRI1_ENST00000361821.5_Silent_p.N231N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	235	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTCAGGGTCGTTCCAGTATT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	92	98			NA	NA	19		NA											NA				10671101		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347	65095	65095			25769	protein-coding gene	gene with protein product					NA	12878157	Standard	NM_023008	NM_023008	NA	Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.705C>T	19.37:g.10671101G>A		NA	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	37	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178289	0.21787	.	.	ENSG00000129347	ENST00000543682	.	.	.	5.36	3.24	0.37175	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49133	-0.8971	4	.	.	.	-58.2916	7.2862	0.26340	0.3358:0.0:0.6642:0.0	.	.	.	.	M	173	.	.	T	-	2	0	KRI1	10532101	0.144000	0.22641	0.993000	0.49108	0.925000	0.55904	0.275000	0.18698	0.652000	0.30806	0.563000	0.77884	ACG	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317705.1		-	ENST00000312962.6	Silent	SNP	19 : 10671101 - 10671101 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	488	39
LDB1	8861	broad.mit.edu	37	10	103868035	103868035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:103868035C>T	ENST00000361198.5	-	11	1566	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	LDB1_ENST00000425280.1_Missense_Mutation_p.G351R	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	351					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCCTCGTCCCCGAACTCCCCG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	77	86			NA	NA	10		NA											NA				103868035		2203	4300	6503	SO:0001583	missense			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728	8861	8861			6532	protein-coding gene	gene with protein product	carboxy terminal LIM domain protein 2	603451			NA	9503020, 9799849	Standard	NM_001113407	NM_003893	NA	Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000361198.5:c.943G>A	10.37:g.103868035C>T	ENSP00000354616:p.Gly315Arg	NA	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	37	CCDS7528.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210721	0.79240	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.27890	1.64;1.64	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.85777	2.775	0.80722	D	1	D	0.54772	0.968	B	0.37144	0.242	T	0.58120	-0.7692	10	0.87932	D	0	-3.4047	19.3379	0.94326	0.0:1.0:0.0:0.0	.	351	Q86U70	LDB1_HUMAN	R	315;351	ENSP00000354616:G315R;ENSP00000392466:G351R	ENSP00000354616:G315R	G	-	1	0	LDB1	103858025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.742000	0.94016	0.455000	0.32223	GGG	LDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050027.1		-	ENST00000361198.5	Missense_Mutation	SNP	10 : 103868035 - 103868035 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	215	9
LPHN2	23266	broad.mit.edu	37	1	82421570	82421570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:82421570G>A	ENST00000370728.1	+	13	2476	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	LPHN2_ENST00000394879.1_Missense_Mutation_p.D598N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D598N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D536N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D611N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D598N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D598N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D611N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D611N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D611N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D611N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D598N			O95490	LPHN2_HUMAN	latrophilin 2	611					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCAATTGTTGACACAGTGGA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	106	107			NA	NA	1		NA											NA				82421570		2203	4300	6503	SO:0001583	missense			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114	23266	23266		-, GPCR / Class B : Orphans	18582	protein-coding gene	gene with protein product		607018	latrophilin 1	LPHH1	NA	10760572	Standard	NM_012302	XR_248786	NA	Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1831G>A	1.37:g.82421570G>A	ENSP00000359763:p.Asp611Asn	NA	B1ALT8|B1ALT9|B1ALU0|O94882|Q5VX76|Q9UKY5|Q9UKY6	37		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761933	0.69763	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.60455	1.87	0.80722	D	1	P;D;D	0.71674	0.837;0.998;0.969	P;D;P	0.65987	0.535;0.94;0.709	T	0.00394	-1.1767	10	0.45353	T	0.12	.	19.6548	0.95832	0.0:0.0:1.0:0.0	.	598;598;598	O95490-3;O95490-4;O95490-2	.;.;.	N	536;611;611;611;611;598;598;598;598;598;611;598;611;611	ENSP00000359756:D536N;ENSP00000359763:D611N;ENSP00000359765:D611N;ENSP00000359762:D611N;ENSP00000359760:D611N;ENSP00000359758:D598N;ENSP00000353006:D598N;ENSP00000359750:D598N;ENSP00000359748:D598N;ENSP00000322270:D598N;ENSP00000359752:D611N;ENSP00000378344:D598N;ENSP00000271029:D611N;ENSP00000337306:D611N	ENSP00000271029:D611N	D	+	1	0	LPHN2	82194158	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.648000	0.89879	0.467000	0.42956	GAC	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000027188.1		+	ENST00000370728.1	Missense_Mutation	SNP	1 : 82421570 - 82421570 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	400	23
MPDZ	8777	broad.mit.edu	37	9	13140072	13140072	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:13140072G>A	ENST00000319217.7	-	28	4164	c.3917C>T	c.(3916-3918)gCc>gTc	p.A1306V	MPDZ_ENST00000536827.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1320V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1306V|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1306V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1306V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A165V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1306					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCCATTTCGGCAAAGGCTGA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	161	158			NA	NA	9		NA											NA				13140072		1964	4154	6118	SO:0001583	missense			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186	8777	8777			7208	protein-coding gene	gene with protein product		603785			NA		Standard	NM_003829	NM_003829	NA	Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3917C>T	9.37:g.13140072G>A	ENSP00000320006:p.Ala1306Val	NA	A6NLC2|B2RTS3|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	37		.	.	.	.	.	.	.	.	.	.	G	10.05	1.244722	0.22796	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.45276	2.88;2.83;2.83;2.71;2.73;2.74;2.78;2.88;2.88;0.9	5.9	3.99	0.46301	.	0.701509	0.12341	N	0.477536	T	0.33614	0.0869	L	0.29908	0.895	0.25514	N	0.987437	B;B;B;B;B	0.28055	0.126;0.019;0.199;0.126;0.199	B;B;B;B;B	0.33620	0.055;0.028;0.167;0.08;0.117	T	0.27806	-1.0063	10	0.28530	T	0.3	.	10.1093	0.42552	0.0648:0.0:0.6902:0.245	.	1273;165;1273;1186;1306	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	V	1306;1306;1306;242;165;1273;1273;1306;1186;1320;128	ENSP00000320006:A1306V;ENSP00000439807:A1306V;ENSP00000370410:A1306V;ENSP00000444230:A242V;ENSP00000444717:A165V;ENSP00000444151:A1273V;ENSP00000415208:A1273V;ENSP00000370403:A1306V;ENSP00000446358:A1320V;ENSP00000389705:A128V	ENSP00000320006:A1306V	A	-	2	0	MPDZ	13130072	0.994000	0.37717	0.239000	0.24122	0.708000	0.40852	1.599000	0.36751	0.765000	0.33221	0.552000	0.68991	GCC	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000055485.2		-	ENST00000319217.7	Missense_Mutation	SNP	9 : 13140072 - 13140072 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	597	6
MYL3	4634	broad.mit.edu	37	3	46904790	46904790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:46904790G>A	ENST00000395869.1	-	1	142	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYL3_ENST00000292327.4_Missense_Mutation_p.R31C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	31					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCCTTAGGGCGCTCAGGCTCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(166;130 1949 2249 18977 46142)							NA				0									CYS/ARG	0,4406		0,0,2203	105	110	108		91	3.8	0.1	3		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYL3	NM_000258.2	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	31/196	46904790	1,13005	2203	4300	6503	SO:0001583	missense				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808	4634	4634		Myosins / Light chain, EF-hand domain containing	7584	protein-coding gene	gene with protein product		160790	myosin, light polypeptide 3, alkali; ventricular, skeletal, slow		NA	1479618, 2784124	Standard	NM_000258	NM_000258	NA	Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.91C>T	3.37:g.46904790G>A	ENSP00000379210:p.Arg31Cys	NA	B2R534|Q9NRS8	37	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805000	0.16467	0.0	1.16E-4	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84660	-1.88;-1.88	4.68	3.78	0.43462	.	0.633837	0.14361	N	0.324444	T	0.76521	0.3999	L	0.36672	1.1	0.33259	D	0.559466	P	0.44044	0.825	B	0.33890	0.172	T	0.81493	-0.0908	10	0.56958	D	0.05	-1.2058	12.7183	0.57127	0.0:0.167:0.8329:0.0	.	31	P08590	MYL3_HUMAN	C	31	ENSP00000379210:R31C;ENSP00000292327:R31C	ENSP00000292327:R31C	R	-	1	0	MYL3	46879794	0.157000	0.22836	0.100000	0.21137	0.075000	0.17131	0.822000	0.27352	1.275000	0.44379	0.561000	0.74099	CGC	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259165.2		-	ENST00000395869.1	Missense_Mutation	SNP	3 : 46904790 - 46904790 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	443	5
NBPF3	84224	broad.mit.edu	37	1	21795227	21795227	+	Silent	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:21795227T>A	ENST00000318220.6	+	6	1060	c.12T>A	c.(10-12)tcT>tcA	p.S4S	NBPF3_ENST00000342104.5_Silent_p.S60S|NBPF3_ENST00000318249.5_Silent_p.S60S|NBPF3_ENST00000454000.2_Intron			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	60						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGTGGTATCTGCCGGCCCTT	0.512		NA									OREG0013205	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													94	107	103			NA	NA	1		NA											NA				21795227		2203	4300	6503	SO:0001819	synonymous_variant			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794	84224	84224		neuroblastoma breakpoint family	25076	protein-coding gene	gene with protein product		612992			NA	11230166, 16079250	Standard	NM_032264	NM_032264	NA	Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318220.6:c.12T>A	1.37:g.21795227T>A		751	A8K965|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	37																																																																																				NBPF3-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000008190.2		+	ENST00000318220.6	Silent	SNP	1 : 21795227 - 21795227 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	703	7
NUP107	57122	broad.mit.edu	37	12	69082833	69082833	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:69082833C>T	ENST00000539906.1	+	0	229				NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000229179.4_Splice_Site_p.L34F			P57740	NU107_HUMAN	nucleoporin 107kDa	NA					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGAGTTTTACGTATCCTTTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	116	119			NA	NA	12		NA											NA				69082833		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581	57122	57122			29914	protein-coding gene	gene with protein product		607617			NA	12552102, 12705868	Standard	NM_020401	XM_005269037	NA	Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000539906.1:c.-16C>T	12.37:g.69082833C>T		NA		37		.	.	.	.	.	.	.	.	.	.	C	11.25	1.583042	0.28268	.	.	ENSG00000111581	ENST00000229179	.	.	.	5.45	1.62	0.23740	.	0.364773	0.29515	N	0.011933	T	0.28764	0.0713	N	0.19112	0.55	0.80722	D	1	B	0.33288	0.406	B	0.26614	0.071	T	0.03875	-1.0996	8	.	.	.	-14.2674	7.3035	0.26434	0.4774:0.4454:0.0772:0.0	.	34	P57740	NU107_HUMAN	F	34	.	.	L	+	1	0	NUP107	67369100	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	0.680000	0.25306	0.084000	0.17077	-0.541000	0.04245	CTT	NUP107-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000403200.1		+	ENST00000539906.1	5'UTR	SNP	12 : 69082833 - 69082833 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	170	9
PDE1C	5137	broad.mit.edu	37	7	31793127	31793127	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:31793127G>A	ENST00000396193.1	-	19	2774	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PDE1C_ENST00000396191.1_Silent_p.Y667Y|PDE1C_ENST00000321453.7_Silent_p.Y667Y	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	667					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTAGATGCGTAAGCAGGGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	152	154			NA	NA	7		NA											NA				31793127		876	1991	2867	SO:0001819	synonymous_variant			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	5137	5137	3.1.4.17	Phosphodiesterases	8776	protein-coding gene	gene with protein product		602987	phosphodiesterase 1C, calmodulin-dependent (70kD)		NA	8557689	Standard		XM_005249769	NA	Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.2181C>T	7.37:g.31793127G>A		NA	B3KPC6|Q14124	37	CCDS55100.1																																																																																			PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215075.1		-	ENST00000396193.1	Silent	SNP	7 : 31793127 - 31793127 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	374	5
PI16	221476	broad.mit.edu	37	6	36930968	36930968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:36930968G>A	ENST00000373674.3	+	5	1178	c.850G>A	c.(850-852)Gta>Ata	p.V284I	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	284						extracellular region|integral to membrane	peptidase inhibitor activity	p.V284I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCACCTTGCGTAACAACTGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											86	71	76			NA	NA	6		NA											NA				36930968		2203	4300	6503	SO:0001583	missense				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530	221476	221476			21245	protein-coding gene	gene with protein product	microseminoprotein, beta-binding protein		protease inhibitor 16		NA		Standard	NM_153370	NM_001199159	NA	Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.850G>A	6.37:g.36930968G>A	ENSP00000362778:p.Val284Ile	NA	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	37	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235618	0.22626	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.06933	3.24	5.8	-7.55	0.01327	.	1.505140	0.04117	N	0.315674	T	0.00875	0.0029	N	0.08118	0	0.09310	N	0.999999	B	0.30211	0.273	B	0.17722	0.019	T	0.41052	-0.9530	10	0.66056	D	0.02	.	1.6949	0.02859	0.1826:0.2985:0.3241:0.1948	.	284	Q6UXB8	PI16_HUMAN	I	284;136	ENSP00000362778:V284I	ENSP00000362778:V284I	V	+	1	0	PI16	37038946	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.569000	0.05902	-1.245000	0.02513	-0.127000	0.14921	GTA	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040380.1		+	ENST00000373674.3	Missense_Mutation	SNP	6 : 36930968 - 36930968 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	334	24
PIGQ	9091	broad.mit.edu	37	16	633162	633162	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:633162G>A	ENST00000026218.5	+	10	1899	c.1811G>A	c.(1810-1812)gGc>gAc	p.G604D	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	604					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCTGAACACGGCAGGCCCTGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	113	113			NA	NA	16		NA											NA				633162		2201	4300	6501	SO:0001583	missense			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541	9091	9091		Phosphatidylinositol glycan anchor biosynthesis	14135	protein-coding gene	gene with protein product		605754	phosphatidylinositol glycan, class Q		NA	9463366, 9729469	Standard	NM_004204	NM_004204	NA	Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1811G>A	16.37:g.633162G>A	ENSP00000026218:p.Gly604Asp	NA	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379045	0.24944	.	.	ENSG00000007541	ENST00000026218	T	0.25912	1.77	3.18	-0.83	0.10792	.	.	.	.	.	T	0.09686	0.0238	N	0.08118	0	0.19300	N	0.999972	B;B	0.18013	0.025;0.001	B;B	0.15870	0.014;0.001	T	0.34725	-0.9817	8	.	.	.	0.0578	3.0773	0.06251	0.4718:0.0:0.3279:0.2004	.	174;604	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	D	604	ENSP00000026218:G604D	.	G	+	2	0	PIGQ	573163	0.000000	0.05858	0.102000	0.21198	0.028000	0.11728	-0.042000	0.12063	-0.023000	0.13963	-0.481000	0.04817	GGC	PIGQ-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239270.2		+	ENST00000026218.5	Missense_Mutation	SNP	16 : 633162 - 633162 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	651	5
PLXNA4	91584	broad.mit.edu	37	7	131844259	131844259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:131844259G>A	ENST00000359827.3	-	25	5595	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W			Q9HCM2	PLXA4_HUMAN	plexin A4	1545						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTTGGGCCGGTGGGAGCAA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	213	208			NA	NA	7		NA											NA				131844259		2198	4300	6498	SO:0001583	missense			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	91584	91584		Plexins	9102	protein-coding gene	gene with protein product		604280	plexin A4, A, plexin A4, B	PLXNA4A, PLXNA4B	NA		Standard	NM_181775	NM_181775	NA	Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4633C>T	7.37:g.131844259G>A	ENSP00000352882:p.Arg1545Trp	NA	Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067782	0.76301	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15017	2.46;2.46	5.22	0.482	0.16815	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23476	-1.0187	10	0.39692	T	0.17	.	15.9453	0.79789	0.0:0.0:0.5428:0.4572	.	1545	Q9HCM2	PLXA4_HUMAN	W	1545	ENSP00000323194:R1545W;ENSP00000352882:R1545W	ENSP00000323194:R1545W	R	-	1	2	PLXNA4	131494799	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.019000	0.41001	0.155000	0.19261	0.655000	0.94253	CGG	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338422.2		-	ENST00000359827.3	Missense_Mutation	SNP	7 : 131844259 - 131844259 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	863	7
PVALB	5816	broad.mit.edu	37	22	37209707	37209707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:37209707C>T	ENST00000216200.5	-	4	342	c.287G>A	c.(286-288)gGc>gAc	p.G96D	PVALB_ENST00000417718.2_Missense_Mutation_p.G96D|PVALB_ENST00000404171.1_Missense_Mutation_p.G64D	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	96	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						CCCAATTTTGCCGTCCCCATC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	143	151			NA	NA	22		NA											NA				37209707		2203	4300	6503	SO:0001583	missense				CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362	5816	5816		EF-hand domain containing	9704	protein-coding gene	gene with protein product		168890			NA	1559707, 10591208	Standard	NM_002854	NM_002854	NA	Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.287G>A	22.37:g.37209707C>T	ENSP00000216200:p.Gly96Asp	NA	B2R4H7|P78378|Q4VB78|Q5R3Q9	37	CCDS13933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.60|17.60	3.429275|3.429275	0.62844|0.62844	.|.	.|.	ENSG00000100362|ENSG00000100362	ENST00000406910|ENST00000417718;ENST00000216200;ENST00000404171;ENST00000443735	.|D;D;D;D	.|0.90444	.|-1.77;-1.77;-1.77;-2.67	5.41|5.41	4.38|4.38	0.52667|0.52667	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95095|0.95095	0.8411|0.8411	M|M	0.93150|0.93150	3.385|3.385	0.80722|0.80722	D|D	1|1	.|P	.|0.45986	.|0.87	.|P	.|0.52189	.|0.692	D|D	0.95741|0.95741	0.8783|0.8783	5|10	.|0.66056	.|D	.|0.02	-9.8028|-9.8028	14.5249|14.5249	0.67881|0.67881	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	.|96	.|P20472	.|PRVA_HUMAN	T|D	95|96;96;64;96	.|ENSP00000400247:G96D;ENSP00000216200:G96D;ENSP00000386089:G64D;ENSP00000406977:G96D	.|ENSP00000216200:G96D	A|G	-|-	1|2	0|0	PVALB|PVALB	35539653|35539653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.480000|0.480000	0.33159|0.33159	4.628000|4.628000	0.61282|0.61282	1.277000|1.277000	0.44412|0.44412	0.645000|0.645000	0.84053|0.84053	GCA|GGC	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318857.1		-	ENST00000216200.5	Missense_Mutation	SNP	22 : 37209707 - 37209707 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	954	8
RB1CC1	9821	broad.mit.edu	37	8	53555118	53555118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:53555118C>T	ENST00000025008.5	-	18	4653	c.4130G>A	c.(4129-4131)cGt>cAt	p.R1377H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1377H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1377H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1377					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCAAGCAAACGAGCTCGATC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(180;1701 2102 13475 42023 52570)							NA				0													80	76	77			NA	NA	8		NA											NA				53555118		2203	4300	6503	SO:0001583	missense			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287	9821	9821			15574	protein-coding gene	gene with protein product	200 kDa FAK family kinase-interacting protein, phosphatase 1, regulatory subunit 131	606837			NA	11850849, 7724523, 18443221	Standard	NM_014781	NM_014781	NA	Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4130G>A	8.37:g.53555118C>T	ENSP00000025008:p.Arg1377His	NA	Q8WVU9|Q92601	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831119	0.91036	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15487	2.42;2.42;2.42	5.61	5.61	0.85477	.	0.053357	0.85682	D	0.000000	T	0.30823	0.0777	L	0.32530	0.975	0.44104	D	0.996878	D;D	0.76494	0.999;0.998	P;P	0.61592	0.891;0.781	T	0.01460	-1.1349	10	0.72032	D	0.01	-13.615	18.6201	0.91318	0.0:1.0:0.0:0.0	.	1377;1377	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	1377	ENSP00000025008:R1377H;ENSP00000396067:R1377H;ENSP00000445960:R1377H	ENSP00000025008:R1377H	R	-	2	0	RB1CC1	53717671	0.998000	0.40836	0.994000	0.49952	0.998000	0.95712	3.761000	0.55242	2.632000	0.89209	0.655000	0.94253	CGT	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378011.1		-	ENST00000025008.5	Missense_Mutation	SNP	8 : 53555118 - 53555118 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	405	18
RHOT1	55288	broad.mit.edu	37	17	30521098	30521098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:30521098G>A	ENST00000358365.3	+	11	1068	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RHOT1_ENST00000545287.2_Missense_Mutation_p.D281N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D260N|RHOT1_ENST00000333942.6_Missense_Mutation_p.D281N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D154N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D281N|RHOT1_ENST00000581094.1_Missense_Mutation_p.D281N|RHOT1_ENST00000580976.1_3'UTR	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	281					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGATGACCTGGATTTGACACC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													493	481	485			NA	NA	17		NA											NA				30521098		2203	4300	6503	SO:0001583	missense			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858	55288	55288		EF-hand domain containing	21168	protein-coding gene	gene with protein product	mitochondrial Rho (MIRO) GTPase 1	613888	ras homolog gene family, member T1	ARHT1	NA	12482879	Standard	NM_018307	NM_001033567	NA	Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000358365.3:c.841G>A	17.37:g.30521098G>A	ENSP00000351132:p.Asp281Asn	NA	A4FVB6|A6NFV0|B4DG48|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	37	CCDS32610.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743488	0.69418	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.42131	0.98;0.98;0.98	5.97	5.97	0.96955	EF hand associated, type-2 (1);	0.088643	0.85682	D	0.000000	T	0.22166	0.0534	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.24317	0.101;0.0;0.0;0.0	B;B;B;B	0.24394	0.053;0.002;0.006;0.002	T	0.18745	-1.0327	10	0.38643	T	0.18	-6.5042	20.4135	0.99023	0.0:0.0:1.0:0.0	.	281;281;281;281	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	N	281	ENSP00000351132:D281N;ENSP00000378184:D281N;ENSP00000334724:D281N	ENSP00000334724:D281N	D	+	1	0	RHOT1	27545211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.835000	0.97688	0.591000	0.81541	GAT	RHOT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447098.1		+	ENST00000358365.3	Missense_Mutation	SNP	17 : 30521098 - 30521098 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	1707	21
RPP40	10799	broad.mit.edu	37	6	5004223	5004223	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:5004223C>G	ENST00000319533.5	-	1	47	c.14G>C	c.(13-15)cGc>cCc	p.R5P	RPP40_ENST00000380051.2_Missense_Mutation_p.R5P			O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	5					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCGAAGCCGGCGCAGCGTGGC	0.697		NA									OREG0017160	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													48	49	48			NA	NA	6		NA											NA				5004223		2202	4300	6502	SO:0001583	missense			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787	10799	10799			20992	protein-coding gene	gene with protein product		606117	ribonuclease P1, ribonuclease P 40kDa subunit	RNASEP1	NA	9630247	Standard	NM_006638	NM_006638	NA	Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000319533.5:c.14G>C	6.37:g.5004223C>G	ENSP00000317998:p.Arg5Pro	623	Q5VX97|Q8WVK8	37		.	.	.	.	.	.	.	.	.	.	C	15.95	2.984604	0.53934	.	.	ENSG00000124787	ENST00000380051;ENST00000319533	T;T	0.51071	0.81;0.72	4.53	4.53	0.55603	.	0.509013	0.19657	N	0.109065	T	0.41026	0.1141	L	0.37630	1.12	0.80722	D	1	D;P	0.53885	0.963;0.938	P;B	0.52454	0.699;0.422	T	0.36016	-0.9765	10	0.52906	T	0.07	-11.2996	16.0024	0.80306	0.0:1.0:0.0:0.0	.	5;5	O75818-2;O75818	.;RPP40_HUMAN	P	5	ENSP00000369391:R5P;ENSP00000317998:R5P	ENSP00000317998:R5P	R	-	2	0	RPP40	4949222	0.846000	0.29590	0.089000	0.20774	0.009000	0.06853	1.435000	0.34969	2.338000	0.79540	0.557000	0.71058	CGC	RPP40-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000039734.2		-	ENST00000319533.5	Missense_Mutation	SNP	6 : 5004223 - 5004223 G PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	284	18
SFMBT1	51460	broad.mit.edu	37	3	52940182	52940182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:52940182G>A	ENST00000394752.3	-	20	2789	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	803	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGAACCGCACAACGTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	129	136			NA	NA	3		NA											NA				52940182		2203	4300	6503	SO:0001583	missense			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935	51460	51460		Sterile alpha motif (SAM) domain containing	20255	protein-coding gene	gene with protein product		607319			NA	10661410	Standard	NM_016329	NM_016329	NA	Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2407C>T	3.37:g.52940182G>A	ENSP00000378235:p.Arg803Trp	NA	Q96C73|Q9Y4Q9	37	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412970	0.96072	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000394750	T;T;T	0.50813	0.73;0.73;0.73	5.85	5.85	0.93711	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64816	-0.6318	10	0.87932	D	0	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	803	Q9UHJ3	SMBT1_HUMAN	W	803	ENSP00000378235:R803W;ENSP00000350789:R803W;ENSP00000378233:R803W	ENSP00000350789:R803W	R	-	1	2	SFMBT1	52915222	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.624000	0.74243	2.753000	0.94483	0.655000	0.94253	CGG	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353040.3		-	ENST00000394752.3	Missense_Mutation	SNP	3 : 52940182 - 52940182 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	336	5
SLC2A6	11182	broad.mit.edu	37	9	136343488	136343488	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:136343488C>T	ENST00000371899.4	-	2	220	c.143G>A	c.(142-144)gGc>gAc	p.G48D	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.G48D	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	48						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCTGAAATTGCCGAGCACTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	155	157			NA	NA	9		NA											NA				136343488		2203	4300	6503	SO:0001583	missense			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326	11182	11182		Solute carriers	11011	protein-coding gene	gene with protein product		606813			NA	10970791	Standard	NM_017585	NM_001145099	NA	Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.143G>A	9.37:g.136343488C>T	ENSP00000360966:p.Gly48Asp	NA	A6NNU6|Q5SXD7|Q8NCC2	37	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822060	0.90873	.	.	ENSG00000160326	ENST00000371897;ENST00000371899;ENST00000432868	T;T;T	0.79141	-1.24;-1.24;-1.24	4.58	4.58	0.56647	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	H	0.96916	3.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;1.0	D	0.94910	0.8064	10	0.87932	D	0	.	16.3837	0.83490	0.0:1.0:0.0:0.0	.	48;48;48;48	B4DH85;F2Z2F6;Q9UGQ3-2;Q9UGQ3	.;.;.;GTR6_HUMAN	D	48	ENSP00000360964:G48D;ENSP00000360966:G48D;ENSP00000405124:G48D	ENSP00000360964:G48D	G	-	2	0	SLC2A6	135333309	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.168000	0.77570	2.085000	0.62840	0.591000	0.81541	GGC	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054909.1		-	ENST00000371899.4	Missense_Mutation	SNP	9 : 136343488 - 136343488 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	629	5
SMAD4	4089	broad.mit.edu	37	18	48604703	48604703	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:48604703T>G	ENST00000588745.1	+	8	1237	c.1237T>G	c.(1237-1239)Tgg>Ggg	p.W413G	SMAD4_ENST00000342988.3_Missense_Mutation_p.W509G|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.W509G			Q13485	SMAD4_HUMAN	SMAD family member 4	509	MH2.				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)		TGTGAAAGGCTGGGGACCGGA	0.473		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)											114	103	107			NA	NA	18		NA											NA				48604703		2203	4300	6503	SO:0001583	missense			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.1237T>G	18.37:g.48604703T>G	ENSP00000464901:p.Trp413Gly	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460910	0.63513	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.99113	-5.44;-5.44	6.08	6.08	0.98989	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98200	1.0467	10	0.87932	D	0	.	15.6255	0.76851	0.0:0.0:0.0:1.0	.	509	Q13485	SMAD4_HUMAN	G	509	ENSP00000341551:W509G;ENSP00000381452:W509G	ENSP00000341551:W509G	W	+	1	0	SMAD4	46858701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.819000	0.86621	2.330000	0.79161	0.533000	0.62120	TGG	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Missense_Mutation	SNP	18 : 48604703 - 48604703 G PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	304	21
SNRPE	6635	broad.mit.edu	37	1	203831342	203831342	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:203831342T>A	ENST00000414487.2	+	2	118	c.73T>A	c.(73-75)Tta>Ata	p.L25I	SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	25					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCAGATACTTACAAAATGT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(83;324 1318 17952 32395 39614)							NA				0													140	128	132			NA	NA	1		NA											NA				203831342		2203	4300	6503	SO:0001583	missense			M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004	6635	6635			11161	protein-coding gene	gene with protein product		128260			NA	1835977, 2143747	Standard	NM_003094	NM_003094	NA	Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.73T>A	1.37:g.203831342T>A	ENSP00000400591:p.Leu25Ile	NA	B2R5B9|P08578|Q15498|Q5BKT2	37	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501065	0.85176	.	.	ENSG00000182004	ENST00000414487	T	0.59772	0.24	5.25	1.23	0.21249	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.64402	D	0.000001	T	0.68044	0.2958	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.64506	0.926	T	0.66917	-0.5802	9	0.87932	D	0	.	6.6436	0.22923	0.0:0.5457:0.0:0.4543	.	25	P62304	RUXE_HUMAN	I	25	ENSP00000400591:L25I	ENSP00000400591:L25I	L	+	1	2	SNRPE	202097965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.606000	0.36826	0.394000	0.25230	0.402000	0.26972	TTA	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087703.1		+	ENST00000414487.2	Missense_Mutation	SNP	1 : 203831342 - 203831342 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	358	13
SUCLG1	8802	broad.mit.edu	37	2	84652654	84652654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:84652654G>A	ENST00000393868.2	-	8	1109	c.899C>T	c.(898-900)gCc>gTc	p.A300V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	300					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AATTGCCCCGGCATGACCCAT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(48;203 1101 37206 40305 50790)							NA				0													142	143	142			NA	NA	2		NA											NA				84652654		2203	4300	6503	SO:0001583	missense			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	8802	8802	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	succinate-CoA ligase, GDP-forming, alpha subunit		NA	9128182	Standard	NM_003849	NM_003849	NA	Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.899C>T	2.37:g.84652654G>A	ENSP00000377446:p.Ala300Val	NA	Q9BWB0|Q9UNP6	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	G	32	5.160359	0.94727	.	.	ENSG00000163541	ENST00000393868	D	0.86497	-2.13	5.96	5.96	0.96718	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97626	1.0139	10	0.87932	D	0	0.8478	17.913	0.88940	0.0:0.0:1.0:0.0	.	300	P53597	SUCA_HUMAN	V	300	ENSP00000377446:A300V	ENSP00000377446:A300V	A	-	2	0	SUCLG1	84506165	1.000000	0.71417	0.324000	0.25361	0.749000	0.42624	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	GCC	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252298.2		-	ENST00000393868.2	Missense_Mutation	SNP	2 : 84652654 - 84652654 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	629	5
TP53I13	90313	broad.mit.edu	37	17	27898646	27898646	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:27898646A>T	ENST00000301057.7	+	4	336	c.221A>T	c.(220-222)cAt>cTt	p.H74L	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	74						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CCCTGTGCCCATCCCTGGCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	125	122			NA	NA	17		NA											NA				27898646		2090	4234	6324	SO:0001583	missense			AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543	90313	90313			25102	protein-coding gene	gene with protein product					NA	14767535	Standard	NM_138349	NM_138349	NA	Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.221A>T	17.37:g.27898646A>T	ENSP00000301057:p.His74Leu	NA	Q7L5U3	37	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907199	0.33628	.	.	ENSG00000167543	ENST00000301057	.	.	.	4.62	4.62	0.57501	.	0.078468	0.51477	D	0.000094	T	0.71264	0.3319	M	0.72118	2.19	0.40065	D	0.97594	D	0.71674	0.998	D	0.68943	0.961	T	0.74127	-0.3765	9	0.52906	T	0.07	-16.3851	10.7236	0.46055	1.0:0.0:0.0:0.0	.	74	Q8NBR0	P5I13_HUMAN	L	74	.	ENSP00000301057:H74L	H	+	2	0	TP53I13	24922772	0.985000	0.35326	1.000000	0.80357	0.915000	0.54546	2.593000	0.46180	1.844000	0.53588	0.374000	0.22700	CAT	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447804.2		+	ENST00000301057.7	Missense_Mutation	SNP	17 : 27898646 - 27898646 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	298	9
TSHZ1	10194	broad.mit.edu	37	18	72998573	72998573	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:72998573A>G	ENST00000322038.5	+	2	1660	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	TSHZ1_ENST00000580243.1_Missense_Mutation_p.Y404C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	404						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCGCCAGCTACACCTGGCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	77	76			NA	NA	18		NA											NA				72998573		2203	4300	6503	SO:0001583	missense			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981	10194	10194		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	10669	protein-coding gene	gene with protein product		614427	serologically defined colon cancer antigen 33, teashirt zinc finger 1, teashirt family zinc finger 1	SDCCAG33	NA	17586487	Standard	NM_005786	NM_005786	NA	Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000322038.5:c.1076A>G	18.37:g.72998573A>G	ENSP00000323584:p.Tyr359Cys	NA	O60534|Q4LE29|Q53EU4	37	CCDS12009.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.424041	0.25639	.	.	ENSG00000179981	ENST00000322038	T	0.20463	2.07	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.74647	2.275	0.45216	D	0.998227	D	0.89917	1.0	D	0.85130	0.997	T	0.49570	-0.8926	10	0.87932	D	0	-30.001	14.9402	0.70989	1.0:0.0:0.0:0.0	.	404	Q6ZSZ6	TSH1_HUMAN	C	359	ENSP00000323584:Y359C	ENSP00000323584:Y359C	Y	+	2	0	TSHZ1	71127561	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.794000	0.91867	2.371000	0.80710	0.561000	0.74099	TAC	TSHZ1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256333.2		+	ENST00000322038.5	Missense_Mutation	SNP	18 : 72998573 - 72998573 G PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	197	4
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	urinary_tract(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874	55253	55253			25598	protein-coding gene	gene with protein product	tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)	611243	radical S-adenosyl methionine and flavodoxin domains 1	RSAFD1	NA	16162496, 17150819	Standard	NM_018264	NM_018264	NA	Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C		NA	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	37	CCDS5538.1																																																																																			TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251932.2		+	ENST00000359626.5	Silent	SNP	7 : 66479413 - 66479413 C PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	607	6
XIRP1	165904	broad.mit.edu	37	3	39227663	39227663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:39227663C>T	ENST00000340369.3	-	2	3502	c.3274G>A	c.(3274-3276)Ggt>Agt	p.G1092S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCCGAAGACCGTCCTGGATG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	57	58			NA	NA	3		NA											NA				39227663		2203	4299	6502	SO:0001583	missense			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334	165904	165904			14301	protein-coding gene	gene with protein product		609777	cardiomyopathy associated 1	CMYA1	NA	12203715, 15454575	Standard	XM_093522	NM_001198621	NA	Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3274G>A	3.37:g.39227663C>T	ENSP00000343140:p.Gly1092Ser	NA	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	1.886	-0.456684	0.04540	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05580	3.42;3.74	4.72	0.745	0.18359	.	7.244150	0.01698	U	0.027049	T	0.06050	0.0157	L	0.47716	1.5	0.09310	N	1	B;B	0.24882	0.113;0.062	B;B	0.13407	0.004;0.009	T	0.37709	-0.9694	10	0.09084	T	0.74	.	3.123	0.06397	0.1423:0.557:0.1381:0.1626	.	1092;1092	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	1092	ENSP00000379550:G1092S;ENSP00000343140:G1092S	ENSP00000343140:G1092S	G	-	1	0	XIRP1	39202667	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	0.016000	0.13377	0.030000	0.15379	0.650000	0.86243	GGT	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254065.1		-	ENST00000340369.3	Missense_Mutation	SNP	3 : 39227663 - 39227663 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	331	14
ZAP70	7535	broad.mit.edu	37	2	98349783	98349783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:98349783G>A	ENST00000264972.5	+	7	1029	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	ZAP70_ENST00000442208.1_Missense_Mutation_p.A146T|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	272	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CACACTCCCAGCCCACCCATC	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	2		NA											NA				98349783		2202	4298	6500	SO:0001583	missense			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085	7535	7535		SH2 domain containing	12858	protein-coding gene	gene with protein product		176947	zeta-chain (TCR) associated protein kinase (70 kD)	SRK	NA	1423621	Standard		NM_001079	NA	Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.814G>A	2.37:g.98349783G>A	ENSP00000264972:p.Ala272Thr	NA	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504992	0.26949	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	T;T	0.72615	-0.67;-0.67	5.36	4.47	0.54385	.	0.582850	0.15303	N	0.269546	T	0.55130	0.1901	N	0.21448	0.665	0.34249	D	0.678521	B;B	0.13145	0.007;0.003	B;B	0.17433	0.018;0.002	T	0.58222	-0.7674	10	0.23891	T	0.37	.	10.2192	0.43188	0.0926:0.0:0.9074:0.0	.	146;272	P43403-3;P43403	.;ZAP70_HUMAN	T	272;146	ENSP00000264972:A272T;ENSP00000411141:A146T	ENSP00000264972:A272T	A	+	1	0	ZAP70	97716215	0.952000	0.32445	0.997000	0.53966	0.487000	0.33371	2.503000	0.45407	1.384000	0.46424	0.655000	0.94253	GCC	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329278.1		+	ENST00000264972.5	Missense_Mutation	SNP	2 : 98349783 - 98349783 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	162	14
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:135614834C>T	ENST00000520727.1	-	7	1391	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	74			NA	NA	8		NA											NA				135614834		2114	4240	6354	SO:0001819	synonymous_variant			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827	57623	57623		Zinc fingers, C2H2-type	19899	protein-coding gene	gene with protein product		610931	zinc finger protein 406	ZNF406, ZFAT1	NA	10819331, 18329245	Standard	NM_001029939	NM_020863	NA	Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000520727.1:c.1092G>A	8.37:g.135614834C>T		NA	Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	37	CCDS43768.2																																																																																			ZFAT-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378270.1		-	ENST00000520727.1	Silent	SNP	8 : 135614834 - 135614834 T PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	381	5
ZNF544	27300	broad.mit.edu	37	19	58773981	58773981	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:58773981C>G	ENST00000600220.1	+	5	2159	c.1925C>G	c.(1924-1926)tCa>tGa	p.S642*	ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Nonsense_Mutation_p.S670*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.S670*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.S642*|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.S528*|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAAGCCTTTTCAGGGAGCTCT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	116	115			NA	NA	19		NA											NA				58773981		2203	4300	6503	SO:0001587	stop_gained			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131	27300	27300		Zinc fingers, C2H2-type, -	16759	protein-coding gene	gene with protein product	zinc finger protein AF020591				NA		Standard	NM_014480	NM_014480	NA	Approved	AF020591	uc010euo.3	Q6NX49		ENST00000600220.1:c.1925C>G	19.37:g.58773981C>G	ENSP00000471684:p.Ser642*	NA	A8K6J1|Q9UEX4	37		.	.	.	.	.	.	.	.	.	.	C	37	6.545208	0.97654	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	.	.	.	2.94	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.0565	0.30608	0.1591:0.4408:0.4:0.0	.	.	.	.	X	670;642;222	.	ENSP00000269829:S670X	S	+	2	0	ZNF544	63465793	0.000000	0.05858	0.000000	0.03702	0.392000	0.30506	-2.916000	0.00696	-0.330000	0.08514	0.563000	0.77884	TCA	ZNF544-006	NOVEL	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000466756.1		+	ENST00000600220.1	Nonsense_Mutation	SNP	19 : 58773981 - 58773981 G PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	692	10
ZNF781	163115	broad.mit.edu	37	19	38160168	38160168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:38160168C>A	ENST00000590008.1	-	5	1734	c.882G>T	c.(880-882)ttG>ttT	p.L294F	ZNF781_ENST00000358582.4_Missense_Mutation_p.L294F|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GGACAGGAGACAAAAACCTTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	19		NA											NA				38160168		2203	4300	6503	SO:0001583	missense			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381	163115	163115		Zinc fingers, C2H2-type	26745	protein-coding gene	gene with protein product					NA		Standard	NM_152605	NM_152605	NA	Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.882G>T	19.37:g.38160168C>A	ENSP00000466370:p.Leu294Phe	NA	Q2VPJ8	37	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771033	0.16051	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.06142	3.34	2.07	-4.15	0.03881	.	.	.	.	.	T	0.03305	0.0096	L	0.35341	1.055	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.48305	-0.9047	9	0.02654	T	1	-0.7011	4.0507	0.09793	0.4516:0.3457:0.0:0.2027	.	294	Q8N8C0	ZN781_HUMAN	F	294	ENSP00000351391:L294F	ENSP00000351391:L294F	L	-	3	2	ZNF781	42852008	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.780000	0.01775	-1.890000	0.01111	-1.760000	0.00671	TTG	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459495.2		-	ENST00000590008.1	Missense_Mutation	SNP	19 : 38160168 - 38160168 A PAAD-TCGA-IB-AAUM-Tumor-SM-5PNOY	421	25
