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
ADRA1A	148	broad.mit.edu	37	8	26722237	26722237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:26722237C>T	ENST00000519229.1	-	1	256	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	ADRA1A_ENST00000380586.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A84T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A84T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A84T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A84T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	84					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCGAAGATGGCGGAGAAGGGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	156	157			NA	NA	8		NA											NA				26722237		2203	4300	6503	SO:0001583	missense			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907	148	148		GPCR / Class A : Adrenoceptors : alpha	277	protein-coding gene	gene with protein product		104221	adrenergic, alpha-1A-, receptor	ADRA1C	NA		Standard	NM_033303	NM_033303	NA	Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.250G>A	8.37:g.26722237C>T	ENSP00000430793:p.Ala84Thr	NA	A8K0I3|B0ZBD1|B0ZBD2|B0ZBD4|B0ZBD5|B0ZBD6|B0ZBD8|B0ZBD9|O60451|Q13675|Q13729|Q4VBM7|Q6RUJ4|Q6RUJ5|Q6RUJ7|Q6RUJ8|Q6RUJ9|Q96RE8|Q9UD63|Q9UD67	37		.	.	.	.	.	.	.	.	.	.	C	27.5	4.836309	0.91117	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.057498	0.64402	D	0.000001	T	0.57504	0.2058	L	0.61387	1.9	0.80722	D	1	D;D;D;D;P;D	0.89917	0.992;0.992;0.997;0.998;0.944;1.0	P;P;D;D;B;D	0.67900	0.875;0.875;0.918;0.923;0.284;0.954	T	0.61337	-0.7083	10	0.66056	D	0.02	.	17.898	0.88895	0.0:1.0:0.0:0.0	.	84;84;84;84;84;84	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	T	84	ENSP00000369960:A84T;ENSP00000369961:A84T;ENSP00000369956:A84T;ENSP00000369955:A84T;ENSP00000430793:A84T;ENSP00000346557:A84T;ENSP00000276393:A84T;ENSP00000369947:A84T;ENSP00000369946:A84T;ENSP00000351725:A84T	ENSP00000276393:A84T	A	-	1	0	ADRA1A	26778154	1.000000	0.71417	0.941000	0.38009	0.992000	0.81027	7.776000	0.85560	2.365000	0.80145	0.563000	0.77884	GCC	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000376207.1		-	ENST00000519229.1	Missense_Mutation	SNP	8 : 26722237 - 26722237 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	554	6
AGAP6	414189	broad.mit.edu	37	10	51761817	51761817	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:51761817G>A	ENST00000412531.3	+	5	530	c.458G>A	c.(457-459)aGc>aAc	p.S153N	AGAP6_ENST00000374056.4_Missense_Mutation_p.S130N	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	153					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTTGATGACAGCACAGCCATC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149	414189	414189		ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	23466	protein-coding gene	gene with protein product			centaurin, gamma-like family, member 3	CTGLF3	NA		Standard	NM_001077665	NM_001077665	NA	Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000412531.3:c.458G>A	10.37:g.51761817G>A	ENSP00000400972:p.Ser153Asn	NA		37	CCDS44397.1	.	.	.	.	.	.	.	.	.	.	.	9.912	1.209868	0.22289	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	1.7	0.76	0.18442	.	0.122623	0.53938	D	0.000053	T	0.33556	0.0867	M	0.74647	2.275	0.18873	N	0.999983	B	0.33694	0.421	B	0.19666	0.026	T	0.17077	-1.0381	9	0.36615	T	0.2	.	7.338	0.26621	0.1628:0.0:0.8372:0.0	.	153	C9IYN2	.	N	153;130	.	ENSP00000363168:S153N	S	+	2	0	AGAP6	51431823	1.000000	0.71417	0.997000	0.53966	0.011000	0.07611	3.332000	0.52083	0.191000	0.20236	-1.109000	0.02080	AGC	AGAP6-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048058.2		+	ENST00000412531.3	Missense_Mutation	SNP	10 : 51761817 - 51761817 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	568	6
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	477	6
ANGPTL4	51129	broad.mit.edu	37	19	8436173	8436173	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:8436173G>A	ENST00000301455.2	+	6	977	c.806G>A	c.(805-807)cGc>cAc	p.R269H	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.R102H|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.R231H	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	269	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ACGGGGGACCGCAACAGCCGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	19		NA											NA				8436173		2203	4300	6503	SO:0001583	missense			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772	51129	51129		Fibrinogen C domain containing	16039	protein-coding gene	gene with protein product	fasting-induced adipose factor, hepatic angiopoietin-related protein, PPARG angiopoietin related protein, hepatic fibrinogen/angiopoietin-related protein, peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein, angiopoietin-related protein 4	605910			NA	10698685, 10866690, 23960078	Standard	NM_139314	NM_139314	NA	Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.806G>A	19.37:g.8436173G>A	ENSP00000301455:p.Arg269His	NA	D6W670|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	37	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	9.958	1.222072	0.22457	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.21734	1.99;1.99;1.99	5.09	1.64	0.23874	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.358456	0.31268	N	0.007941	T	0.19287	0.0463	L	0.61218	1.895	0.09310	N	1	B;B	0.19073	0.033;0.033	B;B	0.19946	0.027;0.027	T	0.19877	-1.0292	10	0.52906	T	0.07	.	5.6719	0.17728	0.1771:0.0:0.6673:0.1556	.	231;269	A8MY84;Q9BY76	.;ANGL4_HUMAN	H	269;231;102	ENSP00000301455:R269H;ENSP00000377534:R231H;ENSP00000439833:R102H	ENSP00000301455:R269H	R	+	2	0	ANGPTL4	8342173	0.581000	0.26741	0.082000	0.20525	0.213000	0.24496	1.093000	0.30939	0.123000	0.18342	0.555000	0.69702	CGC	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460322.1		+	ENST00000301455.2	Missense_Mutation	SNP	19 : 8436173 - 8436173 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	279	4
ANO3	63982	broad.mit.edu	37	11	26463589	26463589	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:26463589C>A	ENST00000256737.3	+	2	1023	c.171C>A	c.(169-171)ttC>ttA	p.F57L	ANO3_ENST00000525139.1_Missense_Mutation_p.F41L|ANO3_ENST00000537978.1_Missense_Mutation_p.F41L|ANO3_ENST00000531646.1_Missense_Mutation_p.F57L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	57						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTTCCCTCTTCCAGTCAACCG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	165	164			NA	NA	11		NA											NA				26463589		2203	4300	6503	SO:0001583	missense			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343	63982	63982		Ion channels / Chloride channels : Calcium activated : Anoctamins	14004	protein-coding gene	gene with protein product	transmembrane protein 16C (eight membrane-spanning domains)	610110	chromosome 11 open reading frame 25, transmembrane protein 16C	C11orf25, TMEM16C	NA	12739008, 15067359, 23200863, 24692353	Standard	NM_031418	NM_031418	NA	Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.171C>A	11.37:g.26463589C>A	ENSP00000256737:p.Phe57Leu	NA		37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146527	0.21288	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.24	1.93	0.25924	.	0.141341	0.49916	D	0.000138	T	0.30230	0.0758	N	0.03608	-0.345	0.27524	N	0.951301	B	0.02656	0.0	B	0.01281	0.0	T	0.19063	-1.0317	10	0.10902	T	0.67	.	6.8171	0.23837	0.0:0.6403:0.0:0.3597	.	57	Q9BYT9	ANO3_HUMAN	L	41;41;57;57	ENSP00000440737:F41L;ENSP00000432576:F41L;ENSP00000256737:F57L;ENSP00000435275:F57L	ENSP00000256737:F57L	F	+	3	2	ANO3	26420165	0.978000	0.34361	1.000000	0.80357	0.958000	0.62258	-0.158000	0.10070	0.268000	0.21939	0.650000	0.86243	TTC	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387806.1		+	ENST00000256737.3	Missense_Mutation	SNP	11 : 26463589 - 26463589 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	962	274
ARHGAP9	64333	broad.mit.edu	37	12	57873000	57873000	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:57873000C>T	ENST00000393797.2	-	5	595	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.A64T|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A64T|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A143T|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A64T			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	64					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGGCGTCTTGCCAACCACCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	122	130			NA	NA	12		NA											NA				57873000		2203	4300	6503	SO:0001583	missense			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329	64333	64333		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	14130	protein-coding gene	gene with protein product		610576			NA	11396949	Standard	NM_032496	NM_032496	NA	Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000393797.2:c.403G>A	12.37:g.57873000C>T	ENSP00000377386:p.Ala135Thr	NA	Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.587742	0.86851	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.97	4.97	0.65823	Src homology-3 domain (4);	0.079838	0.49916	D	0.000134	T	0.55210	0.1906	M	0.64997	1.995	0.33210	D	0.553344	D;D;P;D;D	0.65815	0.986;0.995;0.77;0.982;0.986	P;D;P;P;P	0.67231	0.894;0.95;0.478;0.78;0.86	T	0.67256	-0.5716	10	0.62326	D	0.03	.	14.0957	0.65019	0.0:1.0:0.0:0.0	.	64;143;64;64;64	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	T	64;64;64;135;113	ENSP00000377380:A64T;ENSP00000348782:A64T;ENSP00000394307:A64T;ENSP00000377386:A135T	ENSP00000344852:A113T	A	-	1	0	ARHGAP9	56159267	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.695000	0.61767	2.460000	0.83146	0.655000	0.94253	GCA	ARHGAP9-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000316538.3		-	ENST00000393797.2	Missense_Mutation	SNP	12 : 57873000 - 57873000 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	676	6
ASTE1	28990	broad.mit.edu	37	3	130744081	130744081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:130744081G>A	ENST00000514044.1	-	3	276	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	ASTE1_ENST00000264992.3_Missense_Mutation_p.R24W			Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	24					DNA repair		nuclease activity	p.R24W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTGTGTCCCGCAACTTCAAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											97	97	97			NA	NA	3		NA											NA				130744081		2203	4300	6503	SO:0001583	missense			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533	28990	28990			25021	protein-coding gene	gene with protein product					NA		Standard	NM_014065	NM_014065	NA	Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000514044.1:c.70C>T	3.37:g.130744081G>A	ENSP00000426421:p.Arg24Trp	NA	Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	37		.	.	.	.	.	.	.	.	.	.	G	18.16	3.562030	0.65538	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270;ENST00000505545;ENST00000504725	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.44	2.22	0.28083	XPG N-terminal (1);	0.048280	0.85682	D	0.000000	T	0.70202	0.3197	M	0.74881	2.28	0.42751	D	0.993773	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74682	-0.3583	10	0.87932	D	0	-23.8367	13.7698	0.63018	0.0:0.0:0.4438:0.5562	.	24;24	D6RG30;Q2TB18	.;ASTE1_HUMAN	W	24	ENSP00000426421:R24W;ENSP00000264992:R24W;ENSP00000425683:R24W;ENSP00000422851:R24W	ENSP00000264992:R24W	R	-	1	2	ASTE1	132226771	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.943000	0.40253	0.599000	0.29845	0.650000	0.86243	CGG	ASTE1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356661.1		-	ENST00000514044.1	Missense_Mutation	SNP	3 : 130744081 - 130744081 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	721	6
BCAM	4059	broad.mit.edu	37	19	45316707	45316707	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:45316707C>A	ENST00000589651.1	+	6	668	c.614C>A	c.(613-615)aCc>aAc	p.T205N	BCAM_ENST00000270233.6_Missense_Mutation_p.T205N			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	NA	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGCTACATGACCAGCCGCACG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	31			NA	NA	19		NA											NA				45316707		2191	4272	6463	SO:0001583	missense			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244	4059	4059		CD molecules, Blood group antigens, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6722	protein-coding gene	gene with protein product		612773	Lutheran blood group (Auberger b antigen included), basal cell adhesion molecule (Lu and Au blood groups)	LU	NA		Standard	NM_005581	NM_005581	NA	Approved	CD239	uc002ozu.4	P50895		ENST00000589651.1:c.614C>A	19.37:g.45316707C>A	ENSP00000476710:p.Thr205Asn	NA	A8MYF9|A9YWT5|A9YWT6|Q86VC7	37	CCDS42575.1	.	.	.	.	.	.	.	.	.	.	.	9.602	1.128897	0.21041	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.78126	-1.15;-1.15	4.15	2.85	0.33270	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76421	0.3985	M	0.74258	2.255	0.20196	N	0.999921	P	0.42556	0.783	B	0.44133	0.442	T	0.64989	-0.6277	9	0.27785	T	0.31	-14.6738	7.5419	0.27744	0.0:0.8263:0.0:0.1737	.	205	P50895	BCAM_HUMAN	N	205	ENSP00000270233:T205N;ENSP00000375817:T205N	ENSP00000270233:T205N	T	+	2	0	BCAM	50008547	0.118000	0.22208	0.873000	0.34254	0.413000	0.31143	0.707000	0.25704	2.026000	0.59711	0.462000	0.41574	ACC	BCAM-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453219.2		+	ENST00000589651.1	Missense_Mutation	SNP	19 : 45316707 - 45316707 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	309	109
BCR	613	broad.mit.edu	37	22	23657666	23657666	+	Missense_Mutation	SNP	C	C	T	rs2227942		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:23657666C>T	ENST00000305877.8	+	23	4524	c.3773C>T	c.(3772-3774)cCg>cTg	p.P1258L	BCR_ENST00000359540.3_Missense_Mutation_p.P1214L|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1258					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ATCCCTGCCCCGGACAGCAAG	0.607		NA	T	ABL1,  FGFR1, JAK2 	CML, ALL, AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716	613	613		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1	NA	1657398, 18070886	Standard	NM_004327	NM_004327	NA	Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3773C>T	22.37:g.23657666C>T	ENSP00000303507:p.Pro1258Leu	NA	P78501|Q12842|Q4LE80|Q6NZI3	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.196472	0.79015	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.31510	1.49;1.77	4.72	3.65	0.41850	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	N	0.24115	0.695	0.80722	D	1	B;D;B	0.64830	0.014;0.994;0.002	B;P;B	0.59546	0.009;0.859;0.002	T	0.12915	-1.0529	10	0.54805	T	0.06	.	12.2389	0.54532	0.0:0.8283:0.1717:0.0	rs2227942	847;1214;1258	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	L	1258;1214;923	ENSP00000303507:P1258L;ENSP00000352535:P1214L	ENSP00000303507:P1258L	P	+	2	0	BCR	21987666	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	5.842000	0.69417	1.052000	0.40392	0.305000	0.20034	CCG	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075819.1		+	ENST00000305877.8	Missense_Mutation	SNP	22 : 23657666 - 23657666 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	259	4
BTNL2	56244	broad.mit.edu	37	6	32362627	32362627	+	Silent	SNP	G	G	A	rs144584698		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:32362627G>A	ENST00000454136.3	-	6	1258	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	BTNL2_ENST00000540315.1_Silent_p.H208H|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374993.1_Silent_p.H418H|BTNL2_ENST00000374995.3_Silent_p.H324H|BTNL2_ENST00000544175.1_Silent_p.H141H|BTNL2_ENST00000414363.1_Silent_p.H208H			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	418						integral to membrane		p.H418H(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ATGTCTGCACGTGGAACAGCC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											210	203	205			NA	NA	6		NA											NA				32362627		2203	4300	6503	SO:0001819	synonymous_variant			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290	56244	56244		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Butyrophilins	1142	protein-coding gene	gene with protein product		606000			NA	10803852, 15735647	Standard	NM_019602	XM_006726138	NA	Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000454136.3:c.1254C>T	6.37:g.32362627G>A		NA	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	37																																																																																				BTNL2-001	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000313671.2		-	ENST00000454136.3	Silent	SNP	6 : 32362627 - 32362627 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	570	10
C1R	715	broad.mit.edu	37	12	7187985	7187985	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:7187985C>T	ENST00000542285.1	-	11	1962	c.1813G>A	c.(1813-1815)Gtt>Att	p.V605I				P00736	C1R_HUMAN	complement component 1, r subcomponent	657	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGCAAAAACGCCCCCACTA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	60	58			NA	NA	12		NA											NA				7187985		2041	4216	6257	SO:0001583	missense			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	715	715	3.4.21.41	Complement system	1246	protein-coding gene	gene with protein product		613785			NA		Standard	NM_001733	NM_001733	NA	Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1813G>A	12.37:g.7187985C>T	ENSP00000438615:p.Val605Ile	NA	A6NJQ8|Q68D77|Q8J012	37		.	.	.	.	.	.	.	.	.	.	C	16.64	3.178207	0.57692	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	T	0.41758	0.99	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.092388	0.46145	D	0.000303	T	0.51483	0.1677	.	.	.	0.30586	N	0.762027	P	0.34934	0.476	B	0.43445	0.42	T	0.56595	-0.7953	9	0.62326	D	0.03	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	657	P00736	C1R_HUMAN	I	620;605	ENSP00000438615:V605I	ENSP00000290575:V620I	V	-	1	0	C1R	7058240	0.988000	0.35896	0.993000	0.49108	0.102000	0.19082	2.342000	0.43992	2.681000	0.91329	0.655000	0.94253	GTT	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			-	ENST00000542285.1	Missense_Mutation	SNP	12 : 7187985 - 7187985 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	233	111
C3orf22	152065	broad.mit.edu	37	3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:126268739G>A	ENST00000318225.2	-	4	776	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	133										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4406		0,0,2203	55	53	54		398	-0.5	0	3		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf22	NM_152533.1	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging	133/142	126268739	1,13005	2203	4300	6503	SO:0001583	missense				CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697	152065	152065			28534	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152533	NM_152533	NA	Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.398C>T	3.37:g.126268739G>A	ENSP00000316644:p.Ala133Val	NA		37	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228530	0.39399	0.0	1.16E-4	ENSG00000180697	ENST00000318225	.	.	.	1.92	-0.536	0.11876	.	.	.	.	.	T	0.09818	0.0241	N	0.19112	0.55	0.09310	N	1	P	0.41188	0.741	B	0.25405	0.06	T	0.22730	-1.0208	8	0.02654	T	1	6.4871	4.5161	0.11935	0.4702:0.0:0.5298:0.0	.	133	Q8N5N4	CC022_HUMAN	V	133	.	ENSP00000316644:A133V	A	-	2	0	C3orf22	127751429	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.292000	0.08332	-0.154000	0.11118	0.313000	0.20887	GCG	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370231.2		-	ENST00000318225.2	Missense_Mutation	SNP	3 : 126268739 - 126268739 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	286	92
CCR2	729230	broad.mit.edu	37	3	46401296	46401296	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:46401296G>A	ENST00000400888.2	+	2	1109	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	CCR2_ENST00000292301.4_Missense_Mutation_p.G357E			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	357					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CGTGGAAAAGGAAAGTCAATT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	93	96			NA	NA	3		NA											NA				46401296		1568	3582	5150	SO:0001583	missense				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807	729230	729230		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1603	protein-coding gene	gene with protein product		601267		CMKBR2	NA	8146186	Standard	NM_000647	NM_001123041	NA	Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.1070G>A	3.37:g.46401296G>A	ENSP00000383681:p.Gly357Glu	NA	A0AVQ3|B2RMT0	37	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138456	0.21123	.	.	ENSG00000121807	ENST00000292301;ENST00000400888	T;T	0.68765	-0.35;-0.35	3.45	-1.8	0.07907	.	2.790660	0.01671	N	0.025619	T	0.43678	0.1258	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.27887	0.084	T	0.19516	-1.0303	10	0.22109	T	0.4	.	4.2507	0.10693	0.3066:0.3232:0.3702:0.0	.	357	P41597	CCR2_HUMAN	E	357	ENSP00000292301:G357E;ENSP00000383681:G357E	ENSP00000292301:G357E	G	+	2	0	CCR2	46376300	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.258000	0.08733	-0.422000	0.07405	-0.156000	0.13503	GGA	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344292.1		+	ENST00000400888.2	Missense_Mutation	SNP	3 : 46401296 - 46401296 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	437	6
CDH17	1015	broad.mit.edu	37	8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:95142932G>A	ENST00000027335.3	-	17	2444	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_ENST00000450165.2_Missense_Mutation_p.R774W|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	774	Cadherin 7.					integral to membrane	calcium ion binding	p.R774W(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											78	73	75			NA	NA	8		NA											NA				95142932		2203	4300	6503	SO:0001583	missense			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112	1015	1015		Cadherins / Major cadherins	1756	protein-coding gene	gene with protein product		603017			NA	9615235, 10191097	Standard	NM_004063	NM_004063	NA	Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2320C>T	8.37:g.95142932G>A	ENSP00000027335:p.Arg774Trp	NA	Q15336|Q2M2E0	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417426	0.25552	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.58358	0.34;0.34	5.84	2.83	0.33086	Cadherin (1);	0.561125	0.16175	N	0.226091	T	0.46014	0.1371	L	0.56769	1.78	0.27273	N	0.95831	D	0.63046	0.992	B	0.40534	0.332	T	0.37549	-0.9701	10	0.37606	T	0.19	-0.1227	11.2752	0.49163	0.0:0.0:0.5163:0.4836	.	774	Q12864	CAD17_HUMAN	W	774	ENSP00000027335:R774W;ENSP00000401468:R774W	ENSP00000027335:R774W	R	-	1	2	CDH17	95212108	0.965000	0.33210	0.969000	0.41365	0.045000	0.14185	1.376000	0.34306	0.760000	0.33108	-0.282000	0.10007	CGG	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378560.1		-	ENST00000027335.3	Missense_Mutation	SNP	8 : 95142932 - 95142932 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	287	5
CHRNA9	55584	broad.mit.edu	37	4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(115;1297 1602 22235 25158 43327)							NA				0													56	61	59			NA	NA	4		NA											NA				40351422		2202	4297	6499	SO:0001583	missense			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343	55584	55584		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	14079	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 9 (neuronal)	605116	cholinergic receptor, nicotinic, alpha polypeptide 9		NA		Standard		NM_017581	NA	Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.889C>T	4.37:g.40351422C>T	ENSP00000312663:p.Pro297Ser	NA	Q14CY7|Q4W5A2|Q9NYV2	37	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005901	0.74932	.	.	ENSG00000174343	ENST00000310169	D	0.93859	-3.3	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	297	Q9UGM1	ACHA9_HUMAN	S	297	ENSP00000312663:P297S	ENSP00000312663:P297S	P	+	1	0	CHRNA9	40046179	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCC	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216822.1		+	ENST00000310169.2	Missense_Mutation	SNP	4 : 40351422 - 40351422 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	521	5
CLCN3	1182	broad.mit.edu	37	4	170618575	170618575	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:170618575G>A	ENST00000513761.1	+	9	1812	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	CLCN3_ENST00000360642.3_Missense_Mutation_p.R391H|CLCN3_ENST00000347613.4_Missense_Mutation_p.R418H|CLCN3_ENST00000504131.2_Missense_Mutation_p.R401H	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	418					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGTCGTCGACGCAAGTCCACG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	124	125			NA	NA	4		NA											NA				170618575		2203	4300	6503	SO:0001583	missense			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572	NA	1182		Ion channels / Chloride channels : Voltage-sensitive	2021	protein-coding gene	gene with protein product		600580	chloride channel 3		NA		Standard		NM_001243374	NA	Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1253G>A	4.37:g.170618575G>A	ENSP00000424603:p.Arg418His	NA	D3DP34|O14918|Q86Z21	37	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870874|4.870874	0.91587|0.91587	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000515420|ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	.|D;D;D;D;D	.|0.94650	.|-3.48;-3.48;-3.48;-3.48;-3.48	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Chloride channel, core (2);	.|0.046411	.|0.85682	.|D	.|0.000000	D|D	0.98425|0.98425	0.9476|0.9476	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999;1.0	.|D;D;D;D;D	.|0.77557	.|0.984;0.99;0.984;0.984;0.972	D|D	0.99023|0.99023	1.0818|1.0818	5|10	.|0.87932	.|D	.|0	-4.8294|-4.8294	20.1392|20.1392	0.98050|0.98050	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|391;401;391;418;418	.|B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.|.;.;.;CLCN3_HUMAN;.	T|H	73|418;418;391;401;391	.|ENSP00000424603:R418H;ENSP00000261514:R418H;ENSP00000353857:R391H;ENSP00000424540:R401H;ENSP00000425323:R391H	.|ENSP00000261514:R418H	A|R	+|+	1|2	0|0	CLCN3|CLCN3	170855150|170855150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.968000|7.968000	0.87980|0.87980	2.765000|2.765000	0.95021|0.95021	0.557000|0.557000	0.71058|0.71058	GCA|CGC	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363210.2		+	ENST00000513761.1	Missense_Mutation	SNP	4 : 170618575 - 170618575 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	614	5
COPA	1314	broad.mit.edu	37	1	160302256	160302256	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:160302256G>A	ENST00000241704.7	-	6	707	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	COPA_ENST00000368069.3_Missense_Mutation_p.R160C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	160					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCAAACGCGCACAGTCTGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	103	107			NA	NA	1		NA											NA				160302256		2203	4300	6503	SO:0001583	missense			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218	1314	1314		WD repeat domain containing, Endogenous ligands	2230	protein-coding gene	gene with protein product	proxenin, xenin	601924			NA	8647451	Standard	NM_004371	NM_004371	NA	Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.478C>T	1.37:g.160302256G>A	ENSP00000241704:p.Arg160Cys	NA	Q5T201|Q8IXZ9	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326408	0.81690	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.68025	-0.3;-0.3	5.05	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.053904	0.64402	N	0.000001	T	0.79621	0.4477	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84076	0.0382	10	0.87932	D	0	-11.1798	12.468	0.55771	0.0814:0.0:0.9186:0.0	.	160;160	P53621;P53621-2	COPA_HUMAN;.	C	160	ENSP00000357048:R160C;ENSP00000241704:R160C	ENSP00000241704:R160C	R	-	1	0	COPA	158568880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.381000	0.97205	1.351000	0.45789	0.561000	0.74099	CGC	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080638.1		-	ENST00000241704.7	Missense_Mutation	SNP	1 : 160302256 - 160302256 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	505	6
CTSE	1510	broad.mit.edu	37	1	206331027	206331027	+	Missense_Mutation	SNP	G	G	A	rs145069780	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:206331027G>A	ENST00000358184.2	+	9	1151	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	CTSE_ENST00000432969.2_Silent_p.S222S|CTSE_ENST00000361052.3_Missense_Mutation_p.V350M|CTSE_ENST00000360218.2_Silent_p.S297S	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	350					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACAGGACTTCGTGGATGGAAT	0.552		NA											g	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	0.0032	SNP								NA				0								G	MET/VAL,	1,4405	2.1+/-5.4	0,1,2202	189	184	186		1033,891	4.1	0.3	1	dbSNP_134	186	22,8578	16.0+/-53.3	0,22,4278	yes	missense,coding-synonymous	CTSE	NM_001910.3,NM_148964.2	21,	0,23,6480	AA,AG,GG	NA	0.2558,0.0227,0.1768	possibly-damaging,	345/397,297/364	206331027	23,12983	2203	4300	6503	SO:0001583	missense			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	1510	1510	3.4.23.5	Cathepsins	2530	protein-coding gene	gene with protein product		116890			NA	2369841, 2674141	Standard	NM_001910	NM_001910	NA	Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.1033G>A	1.37:g.206331027G>A	ENSP00000350911:p.Val345Met	NA	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	37	CCDS1462.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	9.329	1.060007	0.19987	2.27E-4	0.002558	ENSG00000196188	ENST00000358184;ENST00000361052	T;T	0.57752	0.38;0.38	4.98	4.05	0.47172	.	0.566694	0.16139	N	0.227824	T	0.33585	0.0868	N	0.25380	0.74	0.19775	N	0.99996	B	0.27498	0.18	B	0.19148	0.024	T	0.23476	-1.0187	10	0.62326	D	0.03	.	3.6214	0.08097	0.2362:0.0:0.5746:0.1892	.	345	P14091-1	.	M	345;350	ENSP00000350911:V345M;ENSP00000354337:V350M	ENSP00000350911:V345M	V	+	1	0	CTSE	204497650	0.000000	0.05858	0.282000	0.24776	0.431000	0.31685	0.742000	0.26216	1.421000	0.47157	0.551000	0.68910	GTG	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087998.1		+	ENST00000358184.2	Missense_Mutation	SNP	1 : 206331027 - 206331027 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	1511	359
CYP2J2	1573	broad.mit.edu	37	1	60359496	60359496	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:60359496G>A	ENST00000371204.3	-	9	1379	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	446					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AGGCATGCCCGCTTTCCTGTA	0.443		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	9e-04	SNP								NA				0													117	129	125			NA	NA	1		NA											NA				60359496		2203	4300	6503	SO:0001583	missense			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716	1573	1573		Cytochrome P450s	2634	protein-coding gene	gene with protein product		601258	cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2		NA	9570962	Standard	NM_000775	NM_000775	NA	Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1336C>T	1.37:g.60359496G>A	ENSP00000360247:p.Arg446Trp	NA		37	CCDS613.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.41	3.821599	0.71028	.	.	ENSG00000134716	ENST00000371204	D	0.93133	-3.17	5.95	-1.46	0.08800	Cytochrome P450, conserved site (1);	0.061474	0.64402	D	0.000004	D	0.96719	0.8929	H	0.97390	3.995	0.46586	D	0.999119	D	0.69078	0.997	D	0.63283	0.913	D	0.94487	0.7698	10	0.87932	D	0	.	7.3676	0.26783	0.1393:0.0:0.3671:0.4936	.	446	P51589	CP2J2_HUMAN	W	446	ENSP00000360247:R446W	ENSP00000360247:R446W	R	-	1	2	CYP2J2	60132084	0.955000	0.32602	0.835000	0.33067	0.993000	0.82548	0.238000	0.18004	-0.095000	0.12351	0.655000	0.94253	CGG	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024940.1		-	ENST00000371204.3	Missense_Mutation	SNP	1 : 60359496 - 60359496 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	887	6
DENND6B	414918	broad.mit.edu	37	22	50753343	50753343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:50753343G>A	ENST00000413817.3	-	10	837	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B	NA											NA						AGCACAGGCCGGAAGCACCTG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	31	29			NA	NA	22		NA											NA				50753343		2087	4191	6278	SO:0001583	missense			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593	414918	414918		DENN/MADD domain containing	32690	protein-coding gene	gene with protein product			family with sequence similarity 116, member B	FAM116B	NA	21330364	Standard	NM_001001794	NM_001001794	NA	Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.766C>T	22.37:g.50753343G>A	ENSP00000391524:p.Arg256Trp	NA		37	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405009	0.62288	.	.	ENSG00000205593	ENST00000413817	.	.	.	5.01	5.01	0.66863	DENN (1);	0.275157	0.37348	N	0.002134	T	0.52451	0.1735	N	0.20986	0.625	0.46609	D	0.999129	D;D	0.61697	0.99;0.99	P;P	0.54210	0.745;0.745	T	0.58216	-0.7675	9	0.66056	D	0.02	-16.6977	15.8062	0.78513	0.0:0.0:1.0:0.0	.	256;256	Q8NEG7;C9JIV6	F116B_HUMAN;.	W	256	.	ENSP00000391524:R256W	R	-	1	2	FAM116B	49095915	1.000000	0.71417	0.999000	0.59377	0.336000	0.28762	8.864000	0.92294	2.322000	0.78497	0.305000	0.20034	CGG	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316845.3		-	ENST00000413817.3	Missense_Mutation	SNP	22 : 50753343 - 50753343 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	166	4
DGKI	9162	broad.mit.edu	37	7	137269964	137269964	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:137269964G>A	ENST00000453654.2	-	14	1193	c.654C>T	c.(652-654)ggC>ggT	p.G218G	DGKI_ENST00000288490.5_Silent_p.G518G|DGKI_ENST00000446122.1_Silent_p.G518G|DGKI_ENST00000424189.2_Silent_p.G518G			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTTACATACGCCATCTTCAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	133	136			NA	NA	7		NA											NA				137269964		2203	4300	6503	SO:0001819	synonymous_variant			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680	9162	9162		Ankyrin repeat domain containing	2855	protein-coding gene	gene with protein product		604072			NA	9830018	Standard	NM_004717	NM_004717	NA	Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000453654.2:c.654C>T	7.37:g.137269964G>A		NA	A4D1Q9|Q9NZ49	37																																																																																				DGKI-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000341287.2		-	ENST00000453654.2	Silent	SNP	7 : 137269964 - 137269964 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	703	171
DIS3L	115752	broad.mit.edu	37	15	66607419	66607419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:66607419G>A	ENST00000319194.5	+	7	872	c.611G>A	c.(610-612)cGc>cAc	p.R204H	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.R287H|DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	287					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTCGAAACCGCTCAATTCAT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	125	131			NA	NA	15		NA											NA				66607419		2201	4299	6500	SO:0001583	missense				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938	115752	115752			28698	protein-coding gene	gene with protein product		614183	DIS3 mitotic control homolog (S. cerevisiae)-like		NA	20531386	Standard	NM_133375	NM_001143688	NA	Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319194.5:c.611G>A	15.37:g.66607419G>A	ENSP00000321583:p.Arg204His	NA	Q8N1N8|Q8WTU9|Q96CM7	37	CCDS10214.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664037	0.96745	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212	T;T;T	0.36699	1.24;1.24;1.24	5.34	5.34	0.76211	.	0.156269	0.56097	D	0.000038	T	0.72566	0.3476	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.81061	-0.1103	10	0.66056	D	0.02	-15.751	18.3807	0.90449	0.0:0.0:1.0:0.0	.	287;287	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	H	204;153;287	ENSP00000321583:R204H;ENSP00000388980:R153H;ENSP00000321711:R287H	ENSP00000321583:R204H	R	+	2	0	DIS3L	64394473	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	9.386000	0.97228	2.655000	0.90218	0.561000	0.74099	CGC	DIS3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256889.3		+	ENST00000319194.5	Missense_Mutation	SNP	15 : 66607419 - 66607419 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	340	6
EHMT1	79813	broad.mit.edu	37	9	140671243	140671243	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:140671243C>T	ENST00000462484.1	+	12	2002	c.1965C>T	c.(1963-1965)ccC>ccT	p.P655P	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.P624P|EHMT1_ENST00000460843.1_Silent_p.P655P	NM_001145527.1	NP_001138999.1	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	655					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACCAGTCCCCGGGCAGGAGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	0,4406		0,0,2203	79	70	73		1965,1965	-5.7	0.1	9		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EHMT1	NM_001145527.1,NM_024757.4	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	655/809,655/1299	140671243	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	79813	79813	2.1.1.43	Chromatin-modifying enzymes / K-methyltransferases, Ankyrin repeat domain containing	24650	protein-coding gene	gene with protein product		607001	euchromatic histone methyltransferase 1		NA	11347906, 12004135	Standard	NM_024757	NM_024757	NA	Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000462484.1:c.1965C>T	9.37:g.140671243C>T		NA	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	37	CCDS56595.1																																																																																			EHMT1-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348982.1		+	ENST00000462484.1	Silent	SNP	9 : 140671243 - 140671243 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	343	88
ELK4	2005	broad.mit.edu	37	1	205589560	205589560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:205589560G>A	ENST00000357992.4	-	3	953	c.614C>T	c.(613-615)gCt>gTt	p.A205V	ELK4_ENST00000289703.4_Missense_Mutation_p.A205V	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)	NA									SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATGGTGGCAGCAACAGGTTC	0.478		NA	T	SLC45A3	prostate									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q32	2005	ELK4, ETS-domain protein (SRF accessory protein 1)		E	0													76	79	78			NA	NA	1		NA											NA				205589560		2203	4300	6503	SO:0001583	missense			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711	2005	2005			3326	protein-coding gene	gene with protein product		600246			NA	7851904, 8575773	Standard	NM_021795	NM_001973	NA	Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.614C>T	1.37:g.205589560G>A	ENSP00000350681:p.Ala205Val	NA		37	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.038791	0.00402	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.29655	1.77;1.56	5.8	3.91	0.45181	.	0.648183	0.17214	N	0.182595	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B;B	0.22683	0.073;0.006	B;B	0.21708	0.036;0.01	T	0.31223	-0.9951	10	0.10377	T	0.69	.	10.5205	0.44916	0.1355:0.1148:0.7496:0.0	.	205;205	P28324-2;P28324	.;ELK4_HUMAN	V	295;205;205	ENSP00000350681:A205V;ENSP00000289703:A205V	ENSP00000289703:A205V	A	-	2	0	ELK4	203856183	0.127000	0.22367	0.001000	0.08648	0.182000	0.23217	1.974000	0.40559	0.372000	0.24591	-0.813000	0.03139	GCT	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090615.1		-	ENST00000357992.4	Missense_Mutation	SNP	1 : 205589560 - 205589560 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	561	5
FAM71A	149647	broad.mit.edu	37	1	212798637	212798637	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:212798637C>T	ENST00000294829.3	+	1	849	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	140										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACAACAGCTGCGCCTGAAGTT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	105	103			NA	NA	1		NA											NA				212798637		2203	4300	6503	SO:0001583	missense				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771	149647	149647			26541	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153606	NM_153606	NA	Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.418C>T	1.37:g.212798637C>T	ENSP00000294829:p.Arg140Cys	NA	Q5VTZ1	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645226	0.67358	.	.	ENSG00000162771	ENST00000294829	T	0.19250	2.16	4.29	4.29	0.51040	.	0.312745	0.22908	N	0.054176	T	0.45236	0.1332	M	0.74546	2.27	0.47698	D	0.999498	D	0.89917	1.0	D	0.83275	0.996	T	0.43589	-0.9382	10	0.72032	D	0.01	-20.9761	12.4812	0.55844	0.0:1.0:0.0:0.0	.	140	Q8IYT1	FA71A_HUMAN	C	140	ENSP00000294829:R140C	ENSP00000294829:R140C	R	+	1	0	FAM71A	210865260	0.385000	0.25172	1.000000	0.80357	0.701000	0.40568	0.230000	0.17852	2.405000	0.81733	0.557000	0.71058	CGC	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098529.1		+	ENST00000294829.3	Missense_Mutation	SNP	1 : 212798637 - 212798637 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	976	464
FAM71B	153745	broad.mit.edu	37	5	156593091	156593091	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:156593091C>T	ENST00000302938.4	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	30						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACAATTGTCGTTGCAGGTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	131	133			NA	NA	5		NA											NA				156593091		2203	4300	6503	SO:0001583	missense				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613	153745	153745			28397	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_130899	NM_130899	NA	Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.89G>A	5.37:g.156593091C>T	ENSP00000305596:p.Arg30Gln	NA	Q1EDD9|Q8TC64|Q96LY8	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	6.047	0.377072	0.11466	.	.	ENSG00000170613	ENST00000302938	T	0.04970	3.52	4.67	2.9	0.33743	.	0.174270	0.35151	N	0.003414	T	0.02929	0.0087	N	0.12887	0.27	0.09310	N	1	P	0.35600	0.511	B	0.23419	0.046	T	0.44877	-0.9299	10	0.38643	T	0.18	-3.3554	8.0345	0.30484	0.0:0.8053:0.0:0.1947	.	30	Q8TC56	FA71B_HUMAN	Q	30	ENSP00000305596:R30Q	ENSP00000305596:R30Q	R	-	2	0	FAM71B	156525669	0.000000	0.05858	0.004000	0.12327	0.097000	0.18754	0.218000	0.17622	0.663000	0.31027	-0.143000	0.13931	CGA	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252570.2		-	ENST00000302938.4	Missense_Mutation	SNP	5 : 156593091 - 156593091 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	675	187
FAT2	2196	broad.mit.edu	37	5	150930181	150930181	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:150930181C>T	ENST00000261800.5	-	7	4560	c.4548G>A	c.(4546-4548)tcG>tcA	p.S1516S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1516	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAGGGCCCCGAGCCGAGGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	80	81			NA	NA	5		NA											NA				150930181		2203	4300	6503	SO:0001819	synonymous_variant			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	2196	2196		Cadherins / Cadherin-related	3596	protein-coding gene	gene with protein product	cadherin-related family member 9	604269	FAT tumor suppressor (Drosophila) homolog 2, FAT tumor suppressor homolog 2 (Drosophila)		NA	9693030	Standard	NM_001447	NM_001447	NA	Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4548G>A	5.37:g.150930181C>T		NA	O75091|Q9NSR7	37	CCDS4317.1																																																																																			FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252434.1		-	ENST00000261800.5	Silent	SNP	5 : 150930181 - 150930181 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	388	8
FERMT1	55612	broad.mit.edu	37	20	6090996	6090996	+	Missense_Mutation	SNP	G	G	A	rs147864238		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:6090996G>A	ENST00000217289.4	-	5	1483	c.695C>T	c.(694-696)gCg>gTg	p.A232V	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	232	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GTACATATCCGCAAGTGCTTC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4406		0,0,2203	133	114	120		695	4.8	0.6	20	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FERMT1	NM_017671.4	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	232/678	6090996	1,13005	2203	4300	6503	SO:0001583	missense			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311	55612	55612		Fermitins, Pleckstrin homology (PH) domain containing	15889	protein-coding gene	gene with protein product	kindlin-1, kinderlin	607900	chromosome 20 open reading frame 42, fermitin family homolog 1 (Drosophila)	C20orf42	NA	12697302, 12789646	Standard	NM_017671	NM_017671	NA	Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.695C>T	20.37:g.6090996G>A	ENSP00000217289:p.Ala232Val	NA	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	37	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169656	0.57584	0.0	1.16E-4	ENSG00000101311	ENST00000217289;ENST00000339538	T	0.48201	0.82	5.81	4.85	0.62838	FERM, N-terminal (1);Band 4.1 domain (1);	0.047428	0.85682	D	0.000000	T	0.50837	0.1639	M	0.66506	2.035	0.80722	D	1	B;B	0.33044	0.326;0.395	B;B	0.35312	0.078;0.2	T	0.53450	-0.8437	10	0.49607	T	0.09	-4.3671	16.8229	0.85923	0.0:0.1287:0.8713:0.0	.	232;232	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	V	232	ENSP00000217289:A232V	ENSP00000217289:A232V	A	-	2	0	FERMT1	6038996	1.000000	0.71417	0.595000	0.28798	0.348000	0.29142	6.593000	0.74100	1.427000	0.47276	0.655000	0.94253	GCG	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077908.2		-	ENST00000217289.4	Missense_Mutation	SNP	20 : 6090996 - 6090996 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	220	4
FHOD3	80206	broad.mit.edu	37	18	33952645	33952645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:33952645G>A	ENST00000590592.1	+	3	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	FHOD3_ENST00000445677.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000257209.4_Missense_Mutation_p.R92Q|FHOD3_ENST00000359247.4_Missense_Mutation_p.R92Q	NM_001281740.1	NP_001268669.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	92	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R92Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTCGTTAGGCGGGGCAAGAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											82	62	69			NA	NA	18		NA											NA				33952645		2203	4300	6503	SO:0001583	missense			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775	80206	80206			26178	protein-coding gene	gene with protein product		609691			NA	11214970	Standard	XM_371114	NM_025135	NA	Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000590592.1:c.275G>A	18.37:g.33952645G>A	ENSP00000466937:p.Arg92Gln	NA	A8MQT4|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	37	CCDS32816.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469151	0.84533	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.19250	2.16;2.16;2.16	5.07	5.07	0.68467	GTPase-binding/formin homology 3 (1);	0.059478	0.64402	D	0.000009	T	0.36635	0.0974	L	0.40543	1.245	0.28823	N	0.897568	D;D;P	0.71674	0.998;0.998;0.705	P;D;B	0.75484	0.74;0.986;0.016	T	0.09378	-1.0677	10	0.62326	D	0.03	.	13.8335	0.63395	0.0:0.0:1.0:0.0	.	92;92;92	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	Q	92	ENSP00000257209:R92Q;ENSP00000352186:R92Q;ENSP00000411430:R92Q	ENSP00000257209:R92Q	R	+	2	0	FHOD3	32206643	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.372000	0.73123	2.633000	0.89246	0.650000	0.86243	CGG	FHOD3-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460883.1		+	ENST00000590592.1	Missense_Mutation	SNP	18 : 33952645 - 33952645 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	143	54
FRAS1	80144	broad.mit.edu	37	4	79462159	79462159	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:79462159C>T	ENST00000264895.6	+	74	12360	c.11920C>T	c.(11920-11922)Cgg>Tgg	p.R3974W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3969					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGCACTGTGCGGAACGTCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	74	74			NA	NA	4		NA											NA				79462159		1930	4143	6073	SO:0001583	missense			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	80144	80144			19185	protein-coding gene	gene with protein product		607830	Fraser syndrome 1		NA	12766769, 3118036	Standard		NM_025074	NA	Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11920C>T	4.37:g.79462159C>T	ENSP00000264895:p.Arg3974Trp	NA	Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.608257|2.608257	0.46527|0.46527	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.51325	.|0.71	6.08|6.08	4.27|4.27	0.50696|0.50696	.|.	.|0.056812	.|0.64402	.|D	.|0.000004	T|T	0.62392|0.62392	0.2424|0.2424	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.66559|0.66559	-0.5893|-0.5893	5|10	.|0.87932	.|D	.|0	.|.	14.4407|14.4407	0.67314|0.67314	0.4855:0.5145:0.0:0.0|0.4855:0.5145:0.0:0.0	.|.	.|3974	.|E9PHH6	.|.	V|W	2202|3974	.|ENSP00000264895:R3974W	.|ENSP00000264895:R3974W	A|R	+|+	2|1	0|2	FRAS1|FRAS1	79681183|79681183	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.071000|0.071000	0.16799|0.16799	2.329000|2.329000	0.43876|0.43876	1.543000|1.543000	0.49345|0.49345	0.591000|0.591000	0.81541|0.81541	GCG|CGG	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000264895.6	Missense_Mutation	SNP	4 : 79462159 - 79462159 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	391	6
FRMPD1	22844	broad.mit.edu	37	9	37708409	37708409	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:37708409C>T	ENST00000539465.1	+	4	866	c.273C>T	c.(271-273)caC>caT	p.H91H	FRMPD1_ENST00000377765.3_Silent_p.H91H|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	91	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCTCTGCTCACGGCAAGCTTT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	129	118	122		273	-4.8	0.9	9		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FRMPD1	NM_014907.2		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		91/1579	37708409	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601	22844	22844			29159	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014907	NM_014907	NA	Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.273C>T	9.37:g.37708409C>T		NA	D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	37	CCDS6612.1																																																																																			FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402969.1		+	ENST00000539465.1	Silent	SNP	9 : 37708409 - 37708409 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	620	171
FSTL5	56884	broad.mit.edu	37	4	162841645	162841645	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:162841645A>T	ENST00000306100.5	-	4	756	c.320T>A	c.(319-321)tTc>tAc	p.F107Y	FSTL5_ENST00000379164.4_Missense_Mutation_p.F106Y|FSTL5_ENST00000536695.1_Missense_Mutation_p.F106Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.F106Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	107	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTTTTCATAGAATTCTCCGTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	119	123			NA	NA	4		NA											NA				162841645		2203	4300	6503	SO:0001583	missense			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843	56884	56884		EF-hand domain containing, Immunoglobulin superfamily / I-set domain containing	21386	protein-coding gene	gene with protein product					NA	10574462, 15527507	Standard	NM_020116	NM_020116	NA	Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.320T>A	4.37:g.162841645A>T	ENSP00000305334:p.Phe107Tyr	NA	Q9NSW7|Q9ULF7	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552502	0.86127	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.86	5.86	0.93980	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.056975	0.64402	D	0.000001	T	0.08268	0.0206	L	0.33093	0.98	0.47994	D	0.999564	D;B;D	0.53619	0.961;0.134;0.961	P;B;P	0.48770	0.589;0.017;0.589	T	0.13176	-1.0519	10	0.51188	T	0.08	.	15.7408	0.77894	1.0:0.0:0.0:0.0	.	106;106;107	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Y	107;106;106;106	ENSP00000305334:F107Y;ENSP00000368462:F106Y;ENSP00000389270:F106Y;ENSP00000440409:F106Y	ENSP00000305334:F107Y	F	-	2	0	FSTL5	163061095	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	8.910000	0.92685	2.367000	0.80283	0.528000	0.53228	TTC	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364773.2		-	ENST00000306100.5	Missense_Mutation	SNP	4 : 162841645 - 162841645 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	266	76
FTL	2512	broad.mit.edu	37	19	49468811	49468811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:49468811C>T	ENST00000331825.6	+	1	254	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	16	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GTGGAGGCAGCCGTCAACAGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	69	69			NA	NA	19		NA											NA				49468811		2203	4300	6503	SO:0001583	missense			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086	2512	2512			3999	protein-coding gene	gene with protein product	ferritin light polypeptide-like 3, L apoferritin, ferritin L subunit, ferritin light chain, ferritin L-chain, neurodegeneration with brain iron accumulation 3	134790			NA	3000916, 9526618	Standard	NM_000146	NM_000146	NA	Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.47C>T	19.37:g.49468811C>T	ENSP00000366525:p.Ala16Val	NA	B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	37	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979521	0.74360	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.66638	-0.22	5.14	1.49	0.22878	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.309717	0.34025	N	0.004328	T	0.68723	0.3032	M	0.88310	2.945	0.27691	N	0.946119	B;B	0.31730	0.236;0.337	B;B	0.32980	0.087;0.156	T	0.67309	-0.5703	10	0.72032	D	0.01	.	9.6464	0.39870	0.1386:0.5426:0.3188:0.0	.	16;16	P02792;F5H1X1	FRIL_HUMAN;.	V	16	ENSP00000366525:A16V	ENSP00000366525:A16V	A	+	2	0	FTL	54160623	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	1.633000	0.37113	0.787000	0.33731	0.655000	0.94253	GCC	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466233.1		+	ENST00000331825.6	Missense_Mutation	SNP	19 : 49468811 - 49468811 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	486	5
GAD2	2572	broad.mit.edu	37	10	26589858	26589858	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:26589858G>A	ENST00000376261.3	+	16	2229	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	GAD2_ENST00000259271.3_Missense_Mutation_p.E576K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	576					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTCCTGATTGAAGAAATAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	10		NA											NA				26589858		2203	4300	6503	SO:0001583	missense			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	2572	2572	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)		NA	2039509	Standard	NM_000818	NM_000818	NA	Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1726G>A	10.37:g.26589858G>A	ENSP00000365437:p.Glu576Lys	NA	Q9UD87	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366041	0.61513	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.39592	1.07;1.07	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.173449	0.53938	D	0.000050	T	0.37865	0.1019	L	0.35542	1.07	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.08269	-1.0730	10	0.46703	T	0.11	-27.4343	19.8579	0.96771	0.0:0.0:1.0:0.0	.	576	Q05329	DCE2_HUMAN	K	576	ENSP00000365437:E576K;ENSP00000259271:E576K	ENSP00000259271:E576K	E	+	1	0	GAD2	26629864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.687000	0.91594	0.655000	0.94253	GAA	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047255.1		+	ENST00000376261.3	Missense_Mutation	SNP	10 : 26589858 - 26589858 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	605	43
GARNL3	84253	broad.mit.edu	37	9	130145778	130145778	+	Silent	SNP	T	T	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:130145778T>G	ENST00000373387.4	+	23	2575	c.2223T>G	c.(2221-2223)tcT>tcG	p.S741S	GARNL3_ENST00000314904.5_Silent_p.S741S|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Silent_p.S719S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	741	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTCAACCTTCTGCGTCAGATT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	104	107			NA	NA	9		NA											NA				130145778		2203	4300	6503	SO:0001819	synonymous_variant			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895	84253	84253			25425	protein-coding gene	gene with protein product			GTPase activating RANGAP domain-like 3		NA	11230166	Standard	NM_032293	NM_032293	NA	Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2223T>G	9.37:g.130145778T>G		NA	B4DEP7|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	37	CCDS6869.2																																																																																			GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054151.3		+	ENST00000373387.4	Silent	SNP	9 : 130145778 - 130145778 G PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	366	17
GBF1	8729	broad.mit.edu	37	10	104117903	104117903	+	Silent	SNP	G	G	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:104117903G>T	ENST00000369983.3	+	9	1007	c.747G>T	c.(745-747)ctG>ctT	p.L249L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	249					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTTCAGAGCTGCCCACTCCCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	202	203			NA	NA	10		NA											NA				104117903		2203	4300	6503	SO:0001819	synonymous_variant			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862	8729	8729			4181	protein-coding gene	gene with protein product		603698	golgi-specific brefeldin A resistance factor 1		NA	9828135	Standard		NM_004193	NA	Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.747G>T	10.37:g.104117903G>T		NA	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	37	CCDS7533.1																																																																																			GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050051.1		+	ENST00000369983.3	Silent	SNP	10 : 104117903 - 104117903 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	1193	269
GNAL	2774	broad.mit.edu	37	18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	6					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGTTTGGGCGGCAACAGCAAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	97			NA	NA	18		NA											NA				11752449		2203	4300	6503	SO:0001583	missense			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404	2774	2774			4388	protein-coding gene	gene with protein product		139312			NA	1302014	Standard	NM_182978, NM_002071	NM_182978	NA	Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.17G>A	18.37:g.11752449G>A	ENSP00000408489:p.Gly6Asp	NA		37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599844	0.87055	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.88975	-2.45;-2.45;-2.45	4.04	4.04	0.47022	.	.	.	.	.	D	0.90783	0.7106	L	0.34521	1.04	0.34358	D	0.690637	D	0.57257	0.979	D	0.69654	0.965	D	0.93188	0.6580	9	0.59425	D	0.04	.	15.6287	0.76885	0.0:0.0:1.0:0.0	.	6	P38405	GNAL_HUMAN	D	6	ENSP00000439023:G6D;ENSP00000269162:G6D;ENSP00000408489:G6D	ENSP00000269162:G6D	G	+	2	0	GNAL	11742449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.928000	0.92853	2.542000	0.85734	0.491000	0.48974	GGC	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254561.2		+	ENST00000423027.3	Missense_Mutation	SNP	18 : 11752449 - 11752449 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	473	5
HOXC4	3221	broad.mit.edu	37	12	54448134	54448134	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:54448134A>G	ENST00000430889.2	+	1	474	c.428A>G	c.(427-429)cAc>cGc	p.H143R	HOXC4_ENST00000303406.4_Missense_Mutation_p.H143R|HOXC4_ENST00000609810.1_Missense_Mutation_p.H143R	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AAAAAAATTCACGTTAGCACG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	24	25			NA	NA	12		NA											NA				54448134		2203	4300	6503	SO:0001583	missense				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353	3221	3221		Homeoboxes / ANTP class : HOXL subclass	5126	protein-coding gene	gene with protein product		142974	homeo box C4	HOX3, HOX3E	NA	1973146, 1358459	Standard		NM_014620	NA	Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.428A>G	12.37:g.54448134A>G	ENSP00000399808:p.His143Arg	NA		37	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949247	0.53186	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.89681	-2.55;-2.55	4.26	4.26	0.50523	Homeodomain-like (1);	0.117106	0.56097	D	0.000028	D	0.95133	0.8423	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.95959	0.8960	10	0.87932	D	0	.	12.7918	0.57539	1.0:0.0:0.0:0.0	.	143	P09017	HXC4_HUMAN	R	143	ENSP00000305973:H143R;ENSP00000399808:H143R	ENSP00000305973:H143R	H	+	2	0	HOXC4	52734401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.711000	0.91396	1.918000	0.55548	0.379000	0.24179	CAC	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358963.1		+	ENST00000430889.2	Missense_Mutation	SNP	12 : 54448134 - 54448134 G PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	234	62
HOXD10	3236	broad.mit.edu	37	2	176981813	176981813	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:176981813G>A	ENST00000490088.2	+	2	569				HOXD10_ENST00000249501.4_Silent_p.P84P			P28358	HXD10_HUMAN	homeobox D10	NA						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGACAGATCCGAACAGATCTT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	99	100			NA	NA	2		NA											NA				176981813		2203	4300	6503	SO:0001627	intron_variant				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710	3236	3236		Homeoboxes / ANTP class : HOXL subclass	5133	protein-coding gene	gene with protein product		142984	homeo box D10	HOX4, HOX4D	NA	1973146, 1358459	Standard		NM_002148	NA	Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000490088.2:c.570-1869G>A	2.37:g.176981813G>A		NA	Q6NT10	37																																																																																				HOXD10-002	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000334236.2		+	ENST00000490088.2	Intron	SNP	2 : 176981813 - 176981813 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	305	88
IGDCC4	57722	broad.mit.edu	37	15	65681260	65681260	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:65681260G>A	ENST00000352385.2	-	15	2802	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	865	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CAGTGCAGCCGAACCGTGGAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	30	33			NA	NA	15		NA											NA				65681260		2200	4298	6498	SO:0001583	missense				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742	57722	57722		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13770	protein-coding gene	gene with protein product	likely ortholog of mouse neighbor of Punc E11				NA		Standard	NM_020962	NM_020962	NA	Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2593C>T	15.37:g.65681260G>A	ENSP00000319623:p.Arg865Trp	NA	Q9HCE4	37	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703326	0.68501	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58210	0.35	4.97	4.04	0.47022	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.356482	0.27397	N	0.019557	T	0.73393	0.3581	M	0.83223	2.63	0.32760	N	0.505288	D	0.89917	1.0	D	0.72338	0.977	T	0.82617	-0.0369	10	0.66056	D	0.02	-15.3636	14.6226	0.68597	0.0:0.0:0.8533:0.1467	.	865	Q8TDY8	IGDC4_HUMAN	W	865;594	ENSP00000319623:R865W	ENSP00000319623:R865W	R	-	1	2	IGDCC4	63468313	1.000000	0.71417	0.796000	0.32109	0.754000	0.42855	4.717000	0.61923	1.074000	0.40909	0.561000	0.74099	CGG	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256825.2		-	ENST00000352385.2	Missense_Mutation	SNP	15 : 65681260 - 65681260 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	171	77
IRGQ	126298	broad.mit.edu	37	19	44096739	44096739	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:44096739G>A	ENST00000602269.1	-	2	1496	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Silent_p.G437G|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	437							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CTGGGAGTCCGCCAGGCCGTA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	31	30			NA	NA	19		NA											NA				44096739		2203	4296	6499	SO:0001819	synonymous_variant			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378	126298	126298			24868	protein-coding gene	gene with protein product			immunity-related GTPase family, Q1	IRGQ1	NA	16277747	Standard	NM_001007561	NM_001007561	NA	Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1311C>T	19.37:g.44096739G>A		NA	B2RNP3	37	CCDS33040.1																																																																																			IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463205.1		-	ENST00000602269.1	Silent	SNP	19 : 44096739 - 44096739 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	398	5
IRX1	79192	broad.mit.edu	37	5	3599380	3599380	+	Silent	SNP	C	C	T	rs61743903	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:3599380C>T	ENST00000302006.3	+	2	370	c.318C>T	c.(316-318)ccC>ccT	p.P106P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGGTGCACCCCGCCACCTTCG	0.642		NA											C	11	0.01	0.02	0.0028	2184	NA	0.9984	,	,	NA	7e-04	NA	NA	NA	0.0055	0.8851	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0								C		67,4339	58.1+/-94.6	1,65,2137	37	41	40		318	-8	0	5	dbSNP_129	40	0,8600		0,0,4300	no	coding-synonymous	IRX1	NM_024337.3		1,65,6437	TT,TC,CC	NA	0.0,1.5207,0.5151		106/481	3599380	67,12939	2203	4300	6503	SO:0001819	synonymous_variant			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549	79192	79192		Homeoboxes / TALE class	14358	protein-coding gene	gene with protein product		606197			NA		Standard	NM_024337	NM_024337	NA	Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.318C>T	5.37:g.3599380C>T		NA	Q7Z2F8|Q8N312	37	CCDS34132.1																																																																																			IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365546.1		+	ENST00000302006.3	Silent	SNP	5 : 3599380 - 3599380 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	363	99
ITGA2	3673	broad.mit.edu	37	5	52376439	52376439	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:52376439G>A	ENST00000296585.5	+	25	3170	c.3027G>A	c.(3025-3027)gtG>gtA	p.V1009V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1009					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAACTGGGGTGCAAACAGACA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	119	121			NA	NA	5		NA											NA				52376439		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171	3673	3673		CD molecules, Integrins	6137	protein-coding gene	gene with protein product		192974		CD49B	NA		Standard	NM_002203	NM_002203	NA	Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3027G>A	5.37:g.52376439G>A		NA	Q14595	37	CCDS3957.1																																																																																			ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253857.2		+	ENST00000296585.5	Silent	SNP	5 : 52376439 - 52376439 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	365	5
KIAA0556	23247	broad.mit.edu	37	16	27659970	27659970	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:27659970G>A	ENST00000261588.4	+	6	473	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	152										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCTCCACATCGAACCTCCTGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	83	89			NA	NA	16		NA											NA				27659970		2197	4300	6497	SO:0001583	missense			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578	23247	23247			29068	protein-coding gene	gene with protein product					NA	9628581	Standard	NM_015202	NM_015202	NA	Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.454G>A	16.37:g.27659970G>A	ENSP00000261588:p.Glu152Lys	NA	A7E2C2	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.339	0.620581	0.14193	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.50548	0.74	4.82	1.53	0.23141	.	0.621024	0.16295	N	0.220719	T	0.39989	0.1099	L	0.46157	1.445	0.28141	N	0.929802	D;B	0.55605	0.972;0.086	P;B	0.45099	0.469;0.01	T	0.35025	-0.9805	10	0.10111	T	0.7	-3.534	12.6071	0.56529	0.0:0.4961:0.5039:0.0	.	17;152	Q8N803;O60303	.;K0556_HUMAN	K	152;16	ENSP00000261588:E152K	ENSP00000261588:E152K	E	+	1	0	KIAA0556	27567471	0.034000	0.19679	0.958000	0.39756	0.186000	0.23388	0.800000	0.27042	0.134000	0.18681	-0.181000	0.13052	GAA	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433724.1		+	ENST00000261588.4	Missense_Mutation	SNP	16 : 27659970 - 27659970 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	386	97
KIAA1024	23251	broad.mit.edu	37	15	79750572	79750572	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:79750572C>T	ENST00000305428.3	+	2	2158	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	695						integral to membrane		p.R695W(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAGCCTGCGGGTCAAGGC	0.542		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)											140	137	138			NA	NA	15		NA											NA				79750572		2196	4293	6489	SO:0001583	missense			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330	23251	23251			29172	protein-coding gene	gene with protein product					NA	10470851	Standard	NM_015206	NM_015206	NA	Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2083C>T	15.37:g.79750572C>T	ENSP00000307461:p.Arg695Trp	NA	A7MD43	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528591	0.44969	.	.	ENSG00000169330	ENST00000305428	T	0.36878	1.23	5.68	4.73	0.59995	.	0.249259	0.41938	D	0.000791	T	0.42337	0.1198	M	0.67953	2.075	0.47905	D	0.999542	D	0.65815	0.995	P	0.45474	0.482	T	0.40794	-0.9544	9	.	.	.	.	16.028	0.80555	0.135:0.865:0.0:0.0	.	695	Q9UPX6	K1024_HUMAN	W	695	ENSP00000307461:R695W	.	R	+	1	2	KIAA1024	77537627	1.000000	0.71417	0.077000	0.20336	0.406000	0.30931	1.426000	0.34870	2.681000	0.91329	0.655000	0.94253	CGG	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416718.1		+	ENST00000305428.3	Missense_Mutation	SNP	15 : 79750572 - 79750572 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	840	6
KIAA1217	56243	broad.mit.edu	37	10	24813298	24813298	+	Missense_Mutation	SNP	G	G	A	rs141384251	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:24813298G>A	ENST00000307544.6	+	8	1884	c.1552G>A	c.(1552-1554)Gca>Aca	p.A518T	KIAA1217_ENST00000458595.1_Missense_Mutation_p.A800T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A518T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A835T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A518T|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A755T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A518T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A800T	NM_001282769.1	NP_001269698.1	Q5T5P2	SKT_HUMAN	KIAA1217	835					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCCAAGCCGCACAGTACAT	0.582		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	LOWCOV,EXOME	NA	NA	9e-04	SNP								NA				0								G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	72	73	73		2263,2398,2503	5.6	0.7	10	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	755/1265,800/1310,835/1944	24813298	1,13005	2203	4300	6503	SO:0001583	missense			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549	56243	56243			25428	protein-coding gene	gene with protein product	sickle tail				NA	10574462	Standard	NM_019590	XM_005252500	NA	Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000307544.6:c.1552G>A	10.37:g.24813298G>A	ENSP00000302343:p.Ala518Thr	NA	A5LHW9|A6PVQ5|A6PVQ6|A6PVQ7|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.58	3.425433	0.62733	0.0	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.61	5.61	0.85477	.	0.390087	0.26673	N	0.023096	T	0.63733	0.2536	L	0.43152	1.355	0.32361	N	0.557113	D;P;D;P;D;D;D;P	0.89917	0.996;0.765;0.989;0.525;0.998;0.996;1.0;0.601	P;B;P;B;P;P;D;B	0.85130	0.612;0.172;0.473;0.164;0.769;0.473;0.997;0.086	T	0.67852	-0.5563	10	0.39692	T	0.17	.	12.9073	0.58160	0.0743:0.0:0.9257:0.0	.	800;800;518;518;518;518;835;835	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	755;800;800;518;835;800;650;518;518;518;518;518	ENSP00000365645:A755T;ENSP00000365639:A800T;ENSP00000392625:A800T;ENSP00000365637:A835T;ENSP00000365635:A800T;ENSP00000404798:A650T;ENSP00000302343:A518T;ENSP00000379722:A518T;ENSP00000365634:A518T;ENSP00000379723:A518T	ENSP00000302343:A518T	A	+	1	0	KIAA1217	24853304	0.085000	0.21516	0.747000	0.31113	0.171000	0.22731	1.526000	0.35964	2.643000	0.89663	0.561000	0.74099	GCA	KIAA1217-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000047220.2		+	ENST00000307544.6	Missense_Mutation	SNP	10 : 24813298 - 24813298 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	476	5
KIAA2022	340533	broad.mit.edu	37	X	73960072	73960072	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:73960072G>A	ENST00000055682.6	-	3	4931	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	NA					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTCGGTCCGTTATTGCCTA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	172	184			NA	NA	X		NA											NA				73960072		2203	4300	6503	SO:0001819	synonymous_variant				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030	340533	340533			29433	protein-coding gene	gene with protein product	XLMR-related protein, neurite extension	300524			NA	15466006, 23615299	Standard	NM_001008537	NM_001008537	NA	Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4320C>T	X.37:g.73960072G>A		NA	A7YY87|Q5JUX9|Q8IVE9	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	3.844	-0.033191	0.07543	.	.	ENSG00000050030	ENST00000424929	.	.	.	5.36	-7.06	0.01568	.	.	.	.	.	T	0.59878	0.2226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64232	-0.6456	4	.	.	.	-17.3921	13.7648	0.62988	0.309:0.0916:0.5995:0.0	.	.	.	.	W	42	.	.	R	-	1	2	KIAA2022	73876797	0.008000	0.16893	0.938000	0.37757	0.996000	0.88848	-0.935000	0.03950	-1.139000	0.02881	0.544000	0.68410	CGG	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057270.2		-	ENST00000055682.6	Silent	SNP	X : 73960072 - 73960072 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	144	201
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	206	80
LGR6	59352	broad.mit.edu	37	1	202287853	202287853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:202287853G>A	ENST00000367278.3	+	18	2511	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I	LGR6_ENST00000439764.2_Missense_Mutation_p.V669I|LGR6_ENST00000255432.7_Missense_Mutation_p.V756I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	808						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCCGAGGCCGTCAAGTCTGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	89	95			NA	NA	1		NA											NA				202287853		2203	4300	6503	SO:0001583	missense			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067	59352	59352		GPCR / Class A : Orphans	19719	protein-coding gene	gene with protein product		606653	leucine-rich repeat-containing G protein-coupled receptor 6		NA	10935549	Standard	NM_021636	XM_005245404	NA	Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2422G>A	1.37:g.202287853G>A	ENSP00000356247:p.Val808Ile	NA	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	37	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	2.892	-0.229549	0.06022	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.37058	1.22;1.22;1.22	4.6	1.6	0.23607	.	0.252924	0.32852	N	0.005573	T	0.12689	0.0308	N	0.04959	-0.14	0.22081	N	0.999379	B;B;B	0.25609	0.13;0.021;0.014	B;B;B	0.18561	0.022;0.004;0.007	T	0.19095	-1.0316	10	0.15952	T	0.53	.	3.813	0.08804	0.4036:0.1804:0.4161:0.0	.	669;756;808	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	I	808;756;669	ENSP00000356247:V808I;ENSP00000255432:V756I;ENSP00000387869:V669I	ENSP00000255432:V756I	V	+	1	0	LGR6	200554476	0.967000	0.33354	0.995000	0.50966	0.988000	0.76386	1.184000	0.32053	0.260000	0.21731	0.485000	0.47835	GTC	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099143.1		+	ENST00000367278.3	Missense_Mutation	SNP	1 : 202287853 - 202287853 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	935	6
LHFPL4	375323	broad.mit.edu	37	3	9547694	9547694	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:9547694C>T	ENST00000287585.6	-	3	885	c.600G>A	c.(598-600)cgG>cgA	p.R200R		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGTCTGTTTGCCGGTTGCCCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	94	99			NA	NA	3		NA											NA				9547694		2203	4300	6503	SO:0001819	synonymous_variant			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959	375323	375323			29568	protein-coding gene	gene with protein product		610240			NA	15905332	Standard	NM_198560	NM_198560	NA	Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.600G>A	3.37:g.9547694C>T		NA	A6NH76|Q29RV7	37	CCDS33691.1																																																																																			LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000338298.1		-	ENST00000287585.6	Silent	SNP	3 : 9547694 - 9547694 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	745	6
LPXN	9404	broad.mit.edu	37	11	58317463	58317463	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:58317463C>T	ENST00000528954.1	-	6	777	c.658G>A	c.(658-660)Gct>Act	p.A220T	LPXN_ENST00000395074.2_Missense_Mutation_p.A215T|LPXN_ENST00000528489.1_Missense_Mutation_p.A195T	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	215	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGGGAGCAGCGCAGTAAGCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	97	99			NA	NA	11		NA											NA				58317463		2201	4295	6496	SO:0001583	missense			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031	9404	9404			14061	protein-coding gene	gene with protein product		605390			NA	9565592	Standard	NM_004811	NM_004811	NA	Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000528954.1:c.658G>A	11.37:g.58317463C>T	ENSP00000431284:p.Ala220Thr	NA	B2R8B4	37	CCDS53635.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194268	0.58017	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.87029	-2.2;-2.2	5.95	5.95	0.96441	Zinc finger, LIM-type (5);	0.121122	0.64402	D	0.000017	D	0.84973	0.5591	N	0.21373	0.66	0.41615	D	0.988935	P;D;P	0.71674	0.845;0.998;0.853	B;P;B	0.58130	0.34;0.833;0.439	D	0.84694	0.0724	10	0.52906	T	0.07	.	8.061	0.30633	0.1594:0.7622:0.0:0.0784	.	195;220;215	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	T	220;215	ENSP00000431284:A220T;ENSP00000378512:A215T	ENSP00000378512:A215T	A	-	1	0	LPXN	58074039	0.996000	0.38824	0.831000	0.32960	0.943000	0.58893	3.514000	0.53422	2.824000	0.97209	0.655000	0.94253	GCT	LPXN-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394710.1		-	ENST00000528954.1	Missense_Mutation	SNP	11 : 58317463 - 58317463 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	532	159
LRP2	4036	broad.mit.edu	37	2	170044768	170044768	+	Missense_Mutation	SNP	G	G	A	rs142093111	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:170044768G>A	ENST00000263816.3	-	49	9325	c.9040C>T	c.(9040-9042)Cgg>Tgg	p.R3014W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3014	LDL-receptor class A 23.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATTGTGCCGGTCACACCTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	103	104	104		9040	-1.3	0.1	2	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRP2	NM_004525.2	101	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	benign	3014/4656	170044768	3,13003	2203	4300	6503	SO:0001583	missense				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9040C>T	2.37:g.170044768G>A	ENSP00000263816:p.Arg3014Trp	NA	O00711|Q16215	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004957	0.35415	0.0	3.49E-4	ENSG00000081479	ENST00000263816	D	0.95588	-3.75	5.68	-1.28	0.09318	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.158354	0.53938	N	0.000058	D	0.91331	0.7266	M	0.74881	2.28	0.80722	D	1	P	0.35307	0.494	B	0.27608	0.081	T	0.83269	-0.0044	10	0.44086	T	0.13	.	5.5847	0.17267	0.2891:0.0:0.3935:0.3174	.	3014	P98164	LRP2_HUMAN	W	3014	ENSP00000263816:R3014W	ENSP00000263816:R3014W	R	-	1	2	LRP2	169753014	1.000000	0.71417	0.145000	0.22337	0.574000	0.36063	1.361000	0.34136	-0.131000	0.11578	0.650000	0.86243	CGG	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255231.2		-	ENST00000263816.3	Missense_Mutation	SNP	2 : 170044768 - 170044768 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	342	5
MAPK8IP3	23162	broad.mit.edu	37	16	1812981	1812981	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:1812981C>T	ENST00000250894.4	+	16	2026	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	MAPK8IP3_ENST00000356010.5_Silent_p.S617S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	623					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGGCAGGCAGCCGGCCCCTGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	58	55			NA	NA	16		NA											NA				1812981		1954	4158	6112	SO:0001819	synonymous_variant			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834	23162	23162			6884	protein-coding gene	gene with protein product	homolog of Drosophila Sunday driver 2	605431			NA	10523642, 10629060	Standard	NM_001040439	XM_005255187	NA	Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1869C>T	16.37:g.1812981C>T		NA	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	37	CCDS10442.2																																																																																			MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250508.2		+	ENST00000250894.4	Silent	SNP	16 : 1812981 - 1812981 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	571	5
MCM2	4171	broad.mit.edu	37	3	127337969	127337969	+	Missense_Mutation	SNP	G	G	A	rs147793264		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:127337969G>A	ENST00000265056.7	+	13	2357	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	705					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGCTGAGCCCGCCATGCCCAA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	0,4406		0,0,2203	45	38	40		2113	0.6	0	3	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCM2	NM_004526.2	58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	705/905	127337969	1,13005	2203	4300	6503	SO:0001583	missense			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111	4171	4171			6944	protein-coding gene	gene with protein product	mitotin	116945	minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin), MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)	CCNL1, CDCL1	NA	1710453, 8258304	Standard		NM_004526	NA	Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2113G>A	3.37:g.127337969G>A	ENSP00000265056:p.Ala705Thr	NA	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517936	0.04171	0.0	1.16E-4	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02421	4.3	5.61	0.559	0.17272	.	1.165010	0.06316	N	0.703534	T	0.01976	0.0062	N	0.05467	-0.045	0.19300	N	0.999978	B;B;B	0.14012	0.001;0.009;0.008	B;B;B	0.16289	0.002;0.015;0.009	T	0.50065	-0.8871	10	0.15066	T	0.55	-10.4948	10.4606	0.44577	0.4466:0.0:0.5534:0.0	.	755;575;705	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	T	705;609;755	ENSP00000265056:A705T	ENSP00000265056:A705T	A	+	1	0	MCM2	128820659	0.111000	0.22076	0.014000	0.15608	0.049000	0.14656	0.425000	0.21346	-0.197000	0.10350	-0.964000	0.02622	GCC	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356612.1		+	ENST00000265056.7	Missense_Mutation	SNP	3 : 127337969 - 127337969 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	207	4
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:3293588C>T	ENST00000339854.4	-	10	1398	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000219596.1_Silent_p.P633P			O15553	MEFV_HUMAN	Mediterranean fever	633					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	170	166			NA	NA	16		NA											NA				3293588		2197	4300	6497	SO:0001819	synonymous_variant			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313	4210	4210		Tripartite motif containing / Tripartite motif containing	6998	protein-coding gene	gene with protein product	pyrin	608107		MEF	NA	9288094	Standard	NM_000243	NM_000243	NA	Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000339854.4:c.1359G>A	16.37:g.3293588C>T		NA	D3DUC0|Q3MJ84|Q96PN4|Q96PN5	37																																																																																				MEFV-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398510.1		-	ENST00000339854.4	Silent	SNP	16 : 3293588 - 3293588 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	905	378
MOS	4342	broad.mit.edu	37	8	57025772	57025772	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:57025772G>A	ENST00000311923.1	-	1	769	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	257	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGCTTTAGGCGTCACGCCCTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(124;373 2870 4778)							NA				0													59	64	62			NA	NA	8		NA											NA				57025772		2203	4300	6503	SO:0001583	missense				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680	4342	4342			7199	protein-coding gene	gene with protein product		190060			NA	9552420	Standard	NM_005372	NM_005372	NA	Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.770C>T	8.37:g.57025772G>A	ENSP00000310722:p.Thr257Met	NA	Q3KPG9|Q3KPH0	37	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623610	0.46840	.	.	ENSG00000172680	ENST00000311923	D	0.94613	-3.47	5.8	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063339	0.64402	D	0.000005	D	0.97770	0.9268	M	0.92412	3.305	0.49582	D	0.999808	D	0.89917	1.0	D	0.79784	0.993	D	0.98669	1.0687	10	0.87932	D	0	.	14.8663	0.70419	0.0686:0.0:0.9314:0.0	.	257	P00540	MOS_HUMAN	M	257	ENSP00000310722:T257M	ENSP00000310722:T257M	T	-	2	0	MOS	57188326	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	9.281000	0.95811	1.470000	0.48102	0.561000	0.74099	ACG	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378174.1		-	ENST00000311923.1	Missense_Mutation	SNP	8 : 57025772 - 57025772 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	558	115
MRPS12	6183	broad.mit.edu	37	19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	rs140018981	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:39423173C>T	ENST00000407800.2	+	2	591	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.R84W|MRPS12_ENST00000402029.3_Missense_Mutation_p.R84W|SARS2_ENST00000448145.2_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	84					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTCGAGTGCGGCTCAGCAC	0.662		NA											C	2	9e-04	NA	NA	2184	0.0035	0.9998	,	,	NA	3e-04	NA	NA	NA	0.001	0.9203	LOWCOV,EXOME	NA	NA	8e-04	SNP								NA				0													58	54	55			NA	NA	19		NA											NA				39423173		2203	4299	6502	SO:0001583	missense			Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626	6183	6183		Mitochondrial ribosomal proteins / small subunits	10380	protein-coding gene	gene with protein product		603021		RPMS12	NA	9545647, 9790755	Standard		NM_021107	NA	Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.250C>T	19.37:g.39423173C>T	ENSP00000384952:p.Arg84Trp	NA	Q53X98	37	CCDS12525.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	21.5	4.155882	0.78114	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.56611	0.45;0.45;0.45	6.07	5.03	0.67393	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.054650	0.85682	D	0.000000	D	0.82462	0.5042	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89042	0.3449	10	0.87932	D	0	-32.1337	14.5652	0.68171	0.1473:0.8527:0.0:0.0	.	84	O15235	RT12_HUMAN	W	84	ENSP00000308845:R84W;ENSP00000384952:R84W;ENSP00000384579:R84W	ENSP00000308845:R84W	R	+	1	2	MRPS12	44115013	1.000000	0.71417	0.997000	0.53966	0.411000	0.31082	3.906000	0.56340	1.559000	0.49555	0.655000	0.94253	CGG	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463154.1		+	ENST00000407800.2	Missense_Mutation	SNP	19 : 39423173 - 39423173 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	422	5
MTUS2	23281	broad.mit.edu	37	13	30002979	30002979	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:30002979G>A	ENST00000380808.2	+	0	216				MTUS2_ENST00000542829.1_De_novo_Start_OutOfFrame|MTUS2_ENST00000431530.3_Intron	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	NA						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTGCCGGGATGGGCCATT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	105	102			NA	NA	13		NA											NA				30002979		2133	4248	6381					AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938	23281	23281			20595	protein-coding gene	gene with protein product	+TIP of 150 kDa, cardiac zipper protein		KIAA0774	KIAA0774	NA	19543227	Standard	XM_166270	NM_001033602	NA	Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:	13.37:g.30002979G>A		NA	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	37	CCDS41874.1																																																																																			MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044335.2		+	ENST00000380808.2	De_novo_Start_InFrame	SNP	13 : 30002979 - 30002979 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	343	77
NOP9	161424	broad.mit.edu	37	14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	NM_174913.1	NP_777573.1			NOP9 nucleolar protein	NA											NA						GTTTTACACCGCAAACTTCCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	156	155			NA	NA	14		NA											NA				24771231		2203	4300	6503	SO:0001583	missense				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943	161424	161424			19826	protein-coding gene	gene with protein product			chromosome 14 open reading frame 21, NOP9 nucleolar protein homolog (yeast)	C14orf21	NA	21653694	Standard		XM_005267385	NA	Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His	NA		37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073186.2		+	ENST00000267425.3	Missense_Mutation	SNP	14 : 24771231 - 24771231 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	854	8
NYAP2	57624	broad.mit.edu	37	2	226446914	226446914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:226446914G>A	ENST00000272907.6	+	4	1194	c.781G>A	c.(781-783)Gat>Aat	p.D261N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	261											NA						GAAGGAGGACGATGACCAGAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	133	131			NA	NA	2		NA											NA				226446914		2057	4189	6246	SO:0001583	missense			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460	57624	57624			29291	protein-coding gene	gene with protein product		615478	KIAA1486	KIAA1486	NA	10819331, 21946561	Standard	NM_020864	NM_020864	NA	Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.781G>A	2.37:g.226446914G>A	ENSP00000272907:p.Asp261Asn	NA	A2RRN4|Q96NL2	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836295	0.91117	.	.	ENSG00000144460	ENST00000272907	T	0.43294	0.95	5.94	5.94	0.96194	.	0.163089	0.52532	D	0.000071	T	0.46964	0.1420	M	0.66939	2.045	0.80722	D	1	D	0.54047	0.964	B	0.42361	0.385	T	0.39722	-0.9600	10	0.27082	T	0.32	-21.5988	20.3736	0.98901	0.0:0.0:1.0:0.0	.	261	Q9P242	K1486_HUMAN	N	261	ENSP00000272907:D261N	ENSP00000272907:D261N	D	+	1	0	KIAA1486	226155158	1.000000	0.71417	0.965000	0.40720	0.977000	0.68977	7.639000	0.83342	2.820000	0.97059	0.650000	0.86243	GAT	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331258.1		+	ENST00000272907.6	Missense_Mutation	SNP	2 : 226446914 - 226446914 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	539	203
OCA2	4948	broad.mit.edu	37	15	28202828	28202828	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:28202828C>T	ENST00000353809.5	-	15	1727	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	OCA2_ENST00000354638.3_Missense_Mutation_p.A564T|OCA2_ENST00000382996.2_Missense_Mutation_p.A564T			Q04671	P_HUMAN	oculocutaneous albinism II	564					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCGCGGCTGGCCGGGCTGATG	0.637		NA							Oculocutaneous Albinism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	27	26			NA	NA	15		NA											NA				28202828		2196	4289	6485	SO:0001583	missense	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044	4948	4948			8101	protein-coding gene	gene with protein product	melanocyte-specific transporter protein	611409	oculocutaneous albinism II (pink-eye dilution (murine) homolog), eye color 3 (brown), eye color 2 (central brown), oculocutaneous albinism II (pink-eye dilution homolog, mouse)	D15S12, P, EYCL3, EYCL2	NA		Standard	NM_000275	NM_000275	NA	Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000353809.5:c.1618G>A	15.37:g.28202828C>T	ENSP00000261276:p.Ala540Thr	NA	Q15211|Q15212|Q96EN1|Q9UMI5	37		.	.	.	.	.	.	.	.	.	.	C	19.30	3.800578	0.70567	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90955	-2.76;-2.57;-2.74	5.8	5.8	0.92144	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	L	0.29908	0.895	0.53005	D	0.999962	P;P	0.50819	0.929;0.939	P;P	0.53549	0.729;0.673	D	0.87323	0.2319	10	0.23302	T	0.38	-14.3158	17.5483	0.87869	0.0:1.0:0.0:0.0	.	540;564	Q04671-2;Q04671	.;P_HUMAN	T	564;540;564	ENSP00000346659:A564T;ENSP00000261276:A540T;ENSP00000372457:A564T	ENSP00000261276:A540T	A	-	1	0	OCA2	25876423	1.000000	0.71417	0.994000	0.49952	0.464000	0.32679	6.883000	0.75595	2.746000	0.94184	0.591000	0.81541	GCC	OCA2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250824.1		-	ENST00000353809.5	Missense_Mutation	SNP	15 : 28202828 - 28202828 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	238	4
OPRK1	4986	broad.mit.edu	37	8	54163405	54163405	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:54163405C>G	ENST00000265572.3	-	2	490	c.193G>C	c.(193-195)Gtc>Ctc	p.V65L	OPRK1_ENST00000520287.1_Missense_Mutation_p.V65L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	65					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACGGAGTAGACCGCCGTGATG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	34	37			NA	NA	8		NA											NA				54163405		2203	4298	6501	SO:0001583	missense				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556	4986	4986		GPCR / Class A : Opioid receptors	8154	protein-coding gene	gene with protein product		165196			NA	8188308	Standard		XM_005251252	NA	Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.193G>C	8.37:g.54163405C>G	ENSP00000265572:p.Val65Leu	NA	Q499G4	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781523	0.90282	.	.	ENSG00000082556	ENST00000265572;ENST00000520287;ENST00000396798	T;T	0.35421	1.31;1.31	4.93	4.93	0.64822	.	0.124940	0.56097	D	0.000033	T	0.28830	0.0715	L	0.42245	1.32	0.80722	D	1	B	0.13594	0.008	B	0.16722	0.016	T	0.10520	-1.0626	10	0.02654	T	1	.	16.1573	0.81676	0.0:1.0:0.0:0.0	.	65	P41145	OPRK_HUMAN	L	65;65;51	ENSP00000265572:V65L;ENSP00000429706:V65L	ENSP00000265572:V65L	V	-	1	0	OPRK1	54325958	0.999000	0.42202	0.962000	0.40283	0.954000	0.61252	4.205000	0.58466	2.586000	0.87340	0.456000	0.33151	GTC	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378048.1		-	ENST00000265572.3	Missense_Mutation	SNP	8 : 54163405 - 54163405 G PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	380	159
OSBPL11	114885	broad.mit.edu	37	3	125298799	125298799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:125298799G>A	ENST00000296220.5	-	3	608	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	107	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCTGCAAGCTGCAAAGTTCCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	118	117			NA	NA	3		NA											NA				125298799		2203	4300	6503	SO:0001587	stop_gained			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909	114885	114885		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16397	protein-coding gene	gene with protein product		606739			NA		Standard	NM_022776	NM_022776	NA	Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.319C>T	3.37:g.125298799G>A	ENSP00000296220:p.Gln107*	NA	A8K9I7	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	40	7.930052	0.98565	.	.	ENSG00000144909	ENST00000296220	.	.	.	5.07	5.07	0.68467	.	0.268957	0.38272	N	0.001758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	13.9553	18.6341	0.91371	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000296220:Q107X	Q	-	1	0	OSBPL11	126781489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.587000	0.98229	2.628000	0.89032	0.655000	0.94253	CAG	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356295.1		-	ENST00000296220.5	Nonsense_Mutation	SNP	3 : 125298799 - 125298799 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	532	5
PAK7	57144	broad.mit.edu	37	20	9546990	9546990	+	Silent	SNP	C	C	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:9546990C>G	ENST00000378429.3	-	6	1578	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	PAK7_ENST00000378423.1_Silent_p.L344L|PAK7_ENST00000353224.5_Silent_p.L344L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	344	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGACCCTGACAGTGGAGGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	121	120			NA	NA	20		NA											NA				9546990		2203	4300	6503	SO:0001819	synonymous_variant			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349	57144	57144			15916	protein-coding gene	gene with protein product		608038	p21(CDKN1A)-activated kinase 7		NA	11756552, 10574462	Standard		NM_020341	NA	Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1032G>C	20.37:g.9546990C>G		NA	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	37	CCDS13107.1																																																																																			PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077962.1		-	ENST00000378429.3	Silent	SNP	20 : 9546990 - 9546990 G PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	524	201
PAPD7	11044	broad.mit.edu	37	5	6748605	6748605	+	Silent	SNP	C	C	T	rs75204452	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:6748605C>T	ENST00000230859.6	+	8	867	c.738C>T	c.(736-738)ggC>ggT	p.G246G		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	246					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTCCTATGGCGCCATGCAGG	0.537		NA											C	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9049	EXOME	NA	NA	2e-04	SNP	NSCLC(7;212 333 5667 23379 46547)							NA				0								C	,,	0,4406		0,0,2203	315	290	298		738,198,738	2.3	1	5	dbSNP_134	298	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PAPD7	NM_001171805.1,NM_001171806.1,NM_006999.4	,,	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	,,	246/542,66/363,246/543	6748605	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941	11044	11044			16705	protein-coding gene	gene with protein product	topoisomerase-related function protein 4-1, polymerase (DNA-directed) sigma, DNA polymerase kappa, TUTase5	605198	polymerase (DNA directed) sigma	POLS	NA	10066793, 10926539	Standard	NM_006999	NM_006999	NA	Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.738C>T	5.37:g.6748605C>T		NA	A8K1E2|O43289|Q17RZ1|Q9Y6C1	37	CCDS3871.1																																																																																			PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206904.1		+	ENST00000230859.6	Silent	SNP	5 : 6748605 - 6748605 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	1228	7
PARP15	165631	broad.mit.edu	37	3	122345673	122345673	+	Splice_Site	DEL	G	G	-			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:122345673delG	ENST00000464300.2	+	9	1297		c.e9-1		PARP15_ENST00000465304.1_Splice_Site|PARP15_ENST00000310366.4_Splice_Site|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000483793.1_Intron	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TTTTTTTTCAGGAAATGCCGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	53	53			NA	NA	3		NA											NA				122345673		2203	4300	6503	SO:0001630	splice_region_variant			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200	165631	165631		Poly (ADP-ribose) polymerases	26876	protein-coding gene	gene with protein product		612066			NA	15273990	Standard	NM_152615	NM_001113523	NA	Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1232-1G>-	3.37:g.122345673delG		NA	Q8N1K3	37	CCDS46893.1																																																																																			PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355964.2	Intron	+	ENST00000464300.2	Splice_Site	DEL	3 : 122345673 - 122345673 - PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	250	55
PCDH12	51294	broad.mit.edu	37	5	141335933	141335933	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:141335933A>T	ENST00000231484.3	-	1	2694	c.1484T>A	c.(1483-1485)gTc>gAc	p.V495D		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	495	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTATGAGACTTTTCCATT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	102	103			NA	NA	5		NA											NA				141335933		2203	4300	6503	SO:0001583	missense			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555	51294	51294		Cadherins / Protocadherins : Non-clustered	8657	protein-coding gene	gene with protein product		605622			NA	10716726, 10380929	Standard	NM_016580	NM_016580	NA	Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1484T>A	5.37:g.141335933A>T	ENSP00000231484:p.Val495Asp	NA	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325820	0.41197	.	.	ENSG00000113555	ENST00000231484	T	0.55234	0.53	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.463335	0.22727	N	0.056374	T	0.77315	0.4112	H	0.94886	3.595	0.80722	D	1	D	0.67145	0.996	P	0.62089	0.898	D	0.83734	0.0200	10	0.87932	D	0	.	12.9983	0.58660	1.0:0.0:0.0:0.0	.	495	Q9NPG4	PCD12_HUMAN	D	495	ENSP00000231484:V495D	ENSP00000231484:V495D	V	-	2	0	PCDH12	141316117	1.000000	0.71417	0.835000	0.33067	0.159000	0.22180	9.139000	0.94554	2.169000	0.68431	0.533000	0.62120	GTC	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251858.1		-	ENST00000231484.3	Missense_Mutation	SNP	5 : 141335933 - 141335933 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	375	120
PCDHB1	29930	broad.mit.edu	37	5	140431291	140431291	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:140431291G>A	ENST00000306549.3	+	1	313	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	79	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R79L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTCCACCGCAAGACGGGA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											62	67	65			NA	NA	5		NA											NA				140431291		2203	4300	6503	SO:0001583	missense			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815	29930	29930		Cadherins / Protocadherins : Clustered	8680	other	protocadherin		606327			NA	10380929	Standard	NM_013340	NM_013340	NA	Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.236G>A	5.37:g.140431291G>A	ENSP00000307234:p.Arg79His	NA	Q2M257	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452174	0.26074	.	.	ENSG00000171815	ENST00000306549	T	0.38887	1.11	5.81	5.81	0.92471	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000178	T	0.38480	0.1042	L	0.46614	1.455	0.22719	N	0.998819	D	0.59357	0.985	P	0.48795	0.59	T	0.42749	-0.9433	10	0.30078	T	0.28	.	5.4729	0.16680	0.0748:0.1974:0.598:0.1299	.	79	Q9Y5F3	PCDB1_HUMAN	H	79	ENSP00000307234:R79H	ENSP00000307234:R79H	R	+	2	0	PCDHB1	140411475	0.000000	0.05858	1.000000	0.80357	0.929000	0.56500	0.076000	0.14712	2.756000	0.94617	0.655000	0.94253	CGC	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251822.2		+	ENST00000306549.3	Missense_Mutation	SNP	5 : 140431291 - 140431291 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	457	6
PCDHGB1	56104	broad.mit.edu	37	5	140730509	140730509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:140730509C>T	ENST00000523390.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			protocadherin gamma subfamily B, 1	NA										central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCTGGATCCGAGTTACGGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	68			NA	NA	5		NA											NA				140730509		1922	4139	6061	SO:0001587	stop_gained			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221	56104	56104		Cadherins / Protocadherins : Clustered	8708	other	protocadherin	protocadherin gamma subfamily B, 1, isoform 2	606299			NA	10380929	Standard	NM_018922	NM_018922	NA	Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.682C>T	5.37:g.140730509C>T	ENSP00000429273:p.Arg228*	NA		37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.38	2.518092	0.44763	.	.	ENSG00000254221	ENST00000523390	.	.	.	5.36	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	7.6146	0.28150	0.6252:0.2816:0.0:0.0931	.	.	.	.	X	228	.	ENSP00000429273:R228X	R	+	1	2	PCDHGB1	140710693	0.000000	0.05858	0.031000	0.17742	0.055000	0.15305	0.430000	0.21428	0.655000	0.30866	0.563000	0.77884	CGA	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374740.1		+	ENST00000523390.1	Nonsense_Mutation	SNP	5 : 140730509 - 140730509 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	503	147
PDAP1	11333	broad.mit.edu	37	7	98997952	98997952	+	Silent	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:98997952C>T	ENST00000350498.3	-	4	589	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	103					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	GCTCCTTTGGCCCGTCCAGAT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	123	138			NA	NA	7		NA											NA				98997952		2203	4300	6503	SO:0001819	synonymous_variant			U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244	11333	11333			14634	protein-coding gene	gene with protein product	PDGF associated protein	607075			NA	8780057	Standard	NM_014891	NM_014891	NA	Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.309G>A	7.37:g.98997952C>T		NA	D6W5S5|Q92906	37	CCDS5662.1																																																																																			PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336388.2		-	ENST00000350498.3	Silent	SNP	7 : 98997952 - 98997952 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	325	5
PHF15	0	broad.mit.edu	37	5	133901907	133901907	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133901907delC	ENST00000402835.1	+	9	1326	c.1071delC	c.(1069-1071)ttcfs	p.F357fs	PHF15_ENST00000395003.1_Frame_Shift_Del_p.F357fs|PHF15_ENST00000282605.4_Frame_Shift_Del_p.F357fs|PHF15_ENST00000361895.2_Frame_Shift_Del_p.F357fs			Q9NQC1	JADE2_HUMAN		357					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCAAGTTCAAGTCATTCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	102	107			NA	NA	5		NA											NA				133901907		2203	4300	6503	SO:0001589	frameshift_variant											NA	NA			NA							NA					NA						ENST00000402835.1:c.1071delC	5.37:g.133901907delC	ENSP00000384671:p.Phe357fs	NA	Q6IE80|Q8TEK0|Q92513|Q96GQ6	37																																																																																				PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000318543.1		+	ENST00000402835.1	Frame_Shift_Del	DEL	5 : 133901907 - 133901907 - PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	539	145
PIWIL3	440822	broad.mit.edu	37	22	25124284	25124284	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:25124284G>A	ENST00000332271.5	-	15	2208	c.1792C>T	c.(1792-1794)Cta>Tta	p.L598L	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.L480L|PIWIL3_ENST00000527701.1_Silent_p.L480L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	598	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGTACATAGGTATCTTTTT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	181	186			NA	NA	22		NA											NA				25124284		2203	4300	6503	SO:0001819	synonymous_variant			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571	440822	440822		Argonaute/PIWI family	18443	protein-coding gene	gene with protein product		610314	piwi-like 3 (Drosophila)		NA	12906857	Standard	NM_001008496	NM_001008496	NA	Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1792C>T	22.37:g.25124284G>A		NA		37	CCDS33623.1																																																																																			PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320084.2		-	ENST00000332271.5	Silent	SNP	22 : 25124284 - 25124284 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	305	193
PLCB3	5331	broad.mit.edu	37	11	64031070	64031070	+	Splice_Site	SNP	G	G	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:64031070G>T	ENST00000540288.1	+	20	2558		c.e20+1		PLCB3_ENST00000279230.6_Splice_Site|PLCB3_ENST00000325234.5_Splice_Site	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	NA					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ATCCGCTCCGGTGAGGCCTTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	45	51			NA	NA	11		NA											NA				64031070		2201	4297	6498	SO:0001630	splice_region_variant			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	5331	5331	3.1.4.11		9056	protein-coding gene	gene with protein product		600230			NA	7849701	Standard		NM_000932	NA	Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2455+1G>T	11.37:g.64031070G>T		NA	A5PKZ6	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205412	0.79127	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0853	0.86610	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCB3	63787646	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.400000	0.97290	2.404000	0.81709	0.561000	0.74099	.	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396405.1	Intron	+	ENST00000540288.1	Splice_Site	SNP	11 : 64031070 - 64031070 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	167	8
PLCB3	5331	broad.mit.edu	37	11	64031069	64031069	+	Splice_Site	DEL	G	G	-			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:64031069delG	ENST00000540288.1	+	20	2558	c.2455delG	c.(2455-2457)gga>ga	p.G819fs	PLCB3_ENST00000279230.6_Splice_Site_p.G819fs|PLCB3_ENST00000325234.5_Splice_Site_p.G752fs	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	819					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CATCCGCTCCGGTGAGGCCTT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	45	51			NA	NA	11		NA											NA				64031069		2201	4297	6498	SO:0001630	splice_region_variant			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	5331	5331	3.1.4.11		9056	protein-coding gene	gene with protein product		600230			NA	7849701	Standard		NM_000932	NA	Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2455+1G>-	11.37:g.64031069delG		NA	A5PKZ6	37	CCDS8064.1																																																																																			PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396405.1	Frame_Shift_Del	+	ENST00000540288.1	Splice_Site	DEL	11 : 64031069 - 64031069 - PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	215	58
POLR3B	55703	broad.mit.edu	37	12	106821038	106821038	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:106821038G>A	ENST00000228347.4	+	13	1387	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.D331N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	389					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAAGATTGCCGACCAGGTGAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	12		NA											NA				106821038		2203	4300	6503	SO:0001583	missense			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503	55703	55703		RNA polymerase subunits	30348	protein-coding gene	gene with protein product		614366			NA	12391170	Standard	NM_018082	NM_018082	NA	Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1165G>A	12.37:g.106821038G>A	ENSP00000228347:p.Asp389Asn	NA	A8K6H0|Q9NW59	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717076	0.89205	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.76448	0.03;0.03;-1.02	5.75	5.75	0.90469	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	M	0.72894	2.215	0.80722	D	1	P	0.35821	0.523	B	0.40940	0.344	T	0.81274	-0.1007	10	0.54805	T	0.06	-28.5091	20.3046	0.98621	0.0:0.0:1.0:0.0	.	389	Q9NW08	RPC2_HUMAN	N	389;389;331;147;52	ENSP00000228347:D389N;ENSP00000445721:D331N;ENSP00000448398:D147N	ENSP00000228347:D389N	D	+	1	0	POLR3B	105345168	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	9.304000	0.96190	2.878000	0.98634	0.650000	0.86243	GAC	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407166.1		+	ENST00000228347.4	Missense_Mutation	SNP	12 : 106821038 - 106821038 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	297	4
PPFIA2	8499	broad.mit.edu	37	12	81839441	81839441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:81839441G>A	ENST00000550584.2	-	5	759	c.464C>T	c.(463-465)aCg>aTg	p.T155M	PPFIA2_ENST00000333447.7_Missense_Mutation_p.T137M|PPFIA2_ENST00000549396.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T81M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T155M|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T2M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T81M|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T137M	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	81										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTTACCACCGTCATTCTTAG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	104	107			NA	NA	12		NA											NA				81839441		1900	4123	6023	SO:0001583	missense			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10					8499	8499		Sterile alpha motif (SAM) domain containing	9246	protein-coding gene	gene with protein product	Liprin-alpha2	603143			NA	9624153	Standard		NM_003625	NA	Approved		uc031qis.1	O75334		ENST00000550584.2:c.464C>T	12.37:g.81839441G>A	ENSP00000449558:p.Thr155Met	NA	E7ERB8	37	CCDS59236.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147230	0.94603	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000551442	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.63346	-0.6658	10	0.87932	D	0	-13.5925	20.115	0.97926	0.0:0.0:1.0:0.0	.	55;155	B7Z4H8;O75334	.;LIPA2_HUMAN	M	155;137;81;166;137;155;81;155;137	ENSP00000450337:T155M;ENSP00000450298:T137M;ENSP00000385093:T81M;ENSP00000327416:T137M;ENSP00000449338:T155M;ENSP00000388373:T81M;ENSP00000447868:T155M;ENSP00000449469:T137M	ENSP00000327416:T137M	T	-	2	0	PPFIA2	80363572	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.869000	0.99810	2.761000	0.94854	0.650000	0.86243	ACG	PPFIA2-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408031.2		-	ENST00000550584.2	Missense_Mutation	SNP	12 : 81839441 - 81839441 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	198	56
PPP2CA	5515	broad.mit.edu	37	5	133541798	133541798	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133541798A>G	ENST00000481195.1	-	2	407	c.127T>C	c.(127-129)Tcc>Ccc	p.S43P	CDKL3_ENST00000609383.1_3'UTR|CDKL3_ENST00000609654.1_Missense_Mutation_p.S393P|CTD-2410N18.4_ENST00000518409.1_RNA|PPP2CA_ENST00000231504.5_5'UTR|CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme	NA										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCACGTTGGATTCTTTTGTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	120	125			NA	NA	5		NA											NA				133541798		2203	4300	6503	SO:0001583	missense				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	5515	5515	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase, catalytic subunits	9299	protein-coding gene	gene with protein product	protein phosphatase 2A catalytic subunit, alpha isoform	176915	protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform		NA	8383590	Standard	NM_002715	NM_002715	NA	Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.127T>C	5.37:g.133541798A>G	ENSP00000418447:p.Ser43Pro	NA		37	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782504	0.70222	.	.	ENSG00000113575	ENST00000481195;ENST00000523082	T;T	0.03745	3.82;3.82	5.35	5.35	0.76521	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.107193	0.64402	D	0.000003	T	0.09423	0.0232	L	0.39245	1.2	0.80722	D	1	B;B	0.29571	0.249;0.001	P;B	0.46049	0.502;0.002	T	0.23013	-1.0200	10	0.62326	D	0.03	-5.6143	15.6174	0.76778	1.0:0.0:0.0:0.0	.	393;43	B7Z2C5;P67775	.;PP2AA_HUMAN	P	43;30	ENSP00000418447:S43P;ENSP00000428816:S30P	ENSP00000418447:S43P	S	-	1	0	PPP2CA	133569697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.161000	0.67846	0.482000	0.46254	TCC	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251165.1		-	ENST00000481195.1	Missense_Mutation	SNP	5 : 133541798 - 133541798 G PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	267	100
PTCHD3	374308	broad.mit.edu	37	10	27702453	27702453	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:27702453G>A	ENST00000438700.3	-	1	844	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	243					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCCTTTTCCCGCGCCACGCGC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	41			NA	NA	10		NA											NA				27702453		2203	4300	6503	SO:0001583	missense			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077	374308	374308			24776	protein-coding gene	gene with protein product		611791			NA		Standard	XM_370541	NM_001034842	NA	Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.727C>T	10.37:g.27702453G>A	ENSP00000417658:p.Arg243Trp	NA	Q6ZU28	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524459	0.27299	.	.	ENSG00000182077	ENST00000438700	D	0.85702	-2.02	3.93	-0.963	0.10330	.	3.428320	0.00760	N	0.001132	T	0.75258	0.3825	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.09377	0.004	T	0.63985	-0.6513	10	0.66056	D	0.02	-0.2446	14.3009	0.66352	0.0:0.7511:0.2489:0.0	.	243	Q3KNS1	PTHD3_HUMAN	W	243	ENSP00000417658:R243W	ENSP00000417658:R243W	R	-	1	2	PTCHD3	27742459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.661000	0.05311	-0.023000	0.13963	-0.311000	0.09066	CGG	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047325.3		-	ENST00000438700.3	Missense_Mutation	SNP	10 : 27702453 - 27702453 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	328	85
PTPRF	5792	broad.mit.edu	37	1	44054537	44054537	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:44054537T>C	ENST00000359947.4	+	8	1155	c.815T>C	c.(814-816)cTc>cCc	p.L272P	PTPRF_ENST00000372414.3_Missense_Mutation_p.L272P|PTPRF_ENST00000372413.3_Missense_Mutation_p.L272P|PTPRF_ENST00000438120.1_Missense_Mutation_p.L272P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	272	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCGAGGAGCTCACCAAGGAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	101	110			NA	NA	1		NA											NA				44054537		2203	4300	6503	SO:0001583	missense			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949	5792	5792		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9670	protein-coding gene	gene with protein product		179590		LAR	NA	7558042	Standard		NM_130440	NA	Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.815T>C	1.37:g.44054537T>C	ENSP00000353030:p.Leu272Pro	NA	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	37	CCDS489.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180087	0.78564	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.30999	N	0.008451	D	0.86863	0.6035	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.87323	0.2319	10	0.33141	T	0.24	.	16.1281	0.81408	0.0:0.0:0.0:1.0	.	272;272	P10586-2;P10586	.;PTPRF_HUMAN	P	272	ENSP00000353030:L272P;ENSP00000398822:L272P;ENSP00000361491:L272P;ENSP00000361490:L272P	ENSP00000353030:L272P	L	+	2	0	PTPRF	43827124	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	8.036000	0.88901	2.268000	0.75426	0.533000	0.62120	CTC	PTPRF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019710.1		+	ENST00000359947.4	Missense_Mutation	SNP	1 : 44054537 - 44054537 C PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	242	79
RBP3	5949	broad.mit.edu	37	10	48388884	48388884	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:48388884C>T	ENST00000224600.4	-	1	2107	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	665	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCTTGGCCCGCAGGAGGGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	24	23			NA	NA	10		NA											NA				48388884		2201	4290	6491	SO:0001583	missense			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203	5949	5949			9921	protein-coding gene	gene with protein product		180290	retinol-binding protein 3, interstitial		NA		Standard	NM_002900	NM_002900	NA	Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1994G>A	10.37:g.48388884C>T	ENSP00000224600:p.Arg665Gln	NA	Q5VSR0	37	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.163647	0.00318	.	.	ENSG00000107618	ENST00000224600	T	0.61859	0.07	5.53	-2.86	0.05717	.	1.155020	0.06333	N	0.706523	T	0.31009	0.0783	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.22871	-1.0204	10	0.13853	T	0.58	-0.4135	11.9866	0.53151	0.0:0.379:0.0:0.621	.	665	P10745	RET3_HUMAN	Q	665	ENSP00000224600:R665Q	ENSP00000224600:R665Q	R	-	2	0	RBP3	48008890	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.070000	0.03440	-0.584000	0.05913	-0.254000	0.11334	CGG	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047888.1		-	ENST00000224600.4	Missense_Mutation	SNP	10 : 48388884 - 48388884 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	240	62
RFX1	5989	broad.mit.edu	37	19	14088833	14088833	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:14088833G>A	ENST00000254325.4	-	8	1134	c.900C>T	c.(898-900)ggC>ggT	p.G300G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	300					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGCATCGCCGCCCTCCACAT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	110	114			NA	NA	19		NA											NA				14088833		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005	5989	5989			9982	protein-coding gene	gene with protein product	trans-acting regulatory factor 1, enhancer factor C, MHC class II regulatory factor RFX	600006			NA	1505960, 8289803	Standard	NM_002918	NM_002918	NA	Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.900C>T	19.37:g.14088833G>A		NA		37	CCDS12301.1																																																																																			RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458510.1		-	ENST00000254325.4	Silent	SNP	19 : 14088833 - 14088833 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	491	5
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	1512	9
RGS2	5997	broad.mit.edu	37	1	192779364	192779364	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:192779364C>T	ENST00000235382.5	+	2	210	c.179C>T	c.(178-180)aCc>aTc	p.T60I	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	60	Necessary for membrane association.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						AAGCCCAAAACCGGCAAAAAA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(71;51 2183 4981)							NA				0													76	81	79			NA	NA	1		NA											NA				192779364		2203	4300	6503	SO:0001583	missense			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741	5997	5997		Regulators of G-protein signaling, Endogenous ligands	9998	protein-coding gene	gene with protein product		600861	regulator of G-protein signalling 2, 24kD, regulator of G-protein signalling 2, 24kDa, regulator of G-protein signaling 2, 24kDa	G0S8	NA	8179820	Standard	NM_002923	NM_002923	NA	Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.179C>T	1.37:g.192779364C>T	ENSP00000235382:p.Thr60Ile	NA	Q6I9U5	37	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596210	0.28445	.	.	ENSG00000116741	ENST00000235382	T	0.70749	-0.51	5.9	4.97	0.65823	.	0.873372	0.10199	N	0.703678	T	0.53932	0.1827	N	0.14661	0.345	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.43410	-0.9393	10	0.41790	T	0.15	.	8.6472	0.34013	0.1532:0.7709:0.0:0.0759	.	60	P41220	RGS2_HUMAN	I	60	ENSP00000235382:T60I	ENSP00000235382:T60I	T	+	2	0	RGS2	191045987	0.003000	0.15002	0.641000	0.29422	0.958000	0.62258	0.491000	0.22419	1.469000	0.48083	0.655000	0.94253	ACC	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086396.1		+	ENST00000235382.5	Missense_Mutation	SNP	1 : 192779364 - 192779364 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	547	99
RSBN1	54665	broad.mit.edu	37	1	114308998	114308998	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:114308998G>A	ENST00000261441.5	-	7	2076	c.2013C>T	c.(2011-2013)tgC>tgT	p.C671C	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	671						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCATTGTCGCAAAGCTGAA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	83	86			NA	NA	1		NA											NA				114308998		2203	4300	6503	SO:0001819	synonymous_variant			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019	54665	54665			25642	protein-coding gene	gene with protein product		615858			NA	12477932	Standard	NM_018364	NM_018364	NA	Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2013C>T	1.37:g.114308998G>A		NA	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	37	CCDS862.1																																																																																			RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033022.2		-	ENST00000261441.5	Silent	SNP	1 : 114308998 - 114308998 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	530	6
SAG	6295	broad.mit.edu	37	2	234237147	234237147	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:234237147G>A	ENST00000409110.1	+	8	766	c.536G>A	c.(535-537)cGc>cAc	p.R179H	SAG_ENST00000449594.2_Missense_Mutation_p.R45H	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	179					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TTACTGATCCGCAAAGTACAG	0.602		NA											G	1	5e-04	NA	NA	2184	NA	0.9996	,	,	NA	3e-04	0.0013	NA	NA	6e-04	0.7459	EXOME	NA	NA	5e-04	SNP								NA				0								G	HIS/ARG	0,3988		0,0,1994	171	150	157		536	4.2	1	2		157	1,8335		0,1,4167	no	missense	SAG	NM_000541.4	29	0,1,6161	AA,AG,GG	NA	0.012,0.0,0.0081	probably-damaging	179/406	234237147	1,12323	1994	4168	6162	SO:0001583	missense				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561	6295	6295			10521	protein-coding gene	gene with protein product	arrestin 1	181031			NA	2249983	Standard	NM_000541	NM_000541	NA	Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.536G>A	2.37:g.234237147G>A	ENSP00000386444:p.Arg179His	NA	Q53SV3|Q99858	37	CCDS46545.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.3	3.967692	0.74131	0.0	1.2E-4	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.26660	1.72;1.72	4.18	4.18	0.49190	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67900	0.731;0.954	T	0.71573	-0.4552	10	0.87932	D	0	-6.7464	17.0843	0.86606	0.0:0.0:1.0:0.0	.	45;179	B7Z7L5;P10523	.;ARRS_HUMAN	H	179;179;45	ENSP00000386444:R179H;ENSP00000392889:R45H	ENSP00000252857:R179H	R	+	2	0	SAG	233901886	1.000000	0.71417	0.962000	0.40283	0.213000	0.24496	9.551000	0.98112	2.337000	0.79520	0.650000	0.86243	CGC	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330126.1		+	ENST00000409110.1	Missense_Mutation	SNP	2 : 234237147 - 234237147 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	638	6
SCN11A	11280	broad.mit.edu	37	3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:38938452G>A	ENST00000302328.3	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	763					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGAGGATGCGGAATACCACT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	113	117			NA	NA	3		NA											NA				38938452		2203	4300	6503	SO:0001583	missense			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356	11280	11280		Sodium channels, Voltage-gated ion channels / Sodium channels	10583	protein-coding gene	gene with protein product		604385	sodium channel, voltage-gated, type XI, alpha polypeptide, sodium channel, voltage-gated, type XII, alpha	SCN12A	NA	10444332, 16382098	Standard	NM_014139	NM_014139	NA	Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2287C>T	3.37:g.38938452G>A	ENSP00000307599:p.Arg763Cys	NA	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468244	0.96274	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98760	1.0724	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	763	Q9UI33	SCNBA_HUMAN	C	763	ENSP00000307599:R763C;ENSP00000400945:R763C;ENSP00000416757:R763C;ENSP00000408028:R763C	ENSP00000307599:R763C	R	-	1	0	SCN11A	38913456	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.812000	0.86109	2.827000	0.97445	0.650000	0.86243	CGC	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109746.4		-	ENST00000302328.3	Missense_Mutation	SNP	3 : 38938452 - 38938452 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	383	107
SCN8A	6334	broad.mit.edu	37	12	52183167	52183167	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:52183167G>T	ENST00000354534.6	+	24	4562	c.4384G>T	c.(4384-4386)Gtc>Ttc	p.V1462F	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1421F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	NA					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GTTCATTGGTGTCATCATTGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	166	167			NA	NA	12		NA											NA				52183167		2073	4239	6312	SO:0001583	missense			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876	6334	6334		Sodium channels, Voltage-gated ion channels / Sodium channels	10596	protein-coding gene	gene with protein product		600702	sodium channel, voltage gated, type VIII, alpha polypeptide	MED	NA	7670495, 9828131, 16382098	Standard	NM_014191	NM_014191	NA	Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4384G>T	12.37:g.52183167G>T	ENSP00000346534:p.Val1462Phe	NA	B9VWG8|O95788|Q9NYX2|Q9UPB2	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844393	0.91197	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.99080	-5.4;-5.4;-5.4	4.37	4.37	0.52481	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.989	D	0.98548	1.0635	10	0.87932	D	0	.	18.2498	0.89998	0.0:0.0:1.0:0.0	.	1421;1462	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	F	1462;1421;1421	ENSP00000346534:V1462F;ENSP00000440360:V1421F;ENSP00000347255:V1421F	ENSP00000346534:V1462F	V	+	1	0	SCN8A	50469434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.713000	0.92767	0.655000	0.94253	GTC	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404372.3		+	ENST00000354534.6	Missense_Mutation	SNP	12 : 52183167 - 52183167 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	458	146
SEPT8	23176	broad.mit.edu	37	5	132098218	132098218	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:132098218G>A	ENST00000378721.4	-	5	748	c.648C>T	c.(646-648)ccC>ccT	p.P216P	SEPT8_ENST00000378706.1_Silent_p.P218P|SEPT8_ENST00000378701.1_Silent_p.P216P|SEPT8_ENST00000378719.2_Silent_p.P218P|SEPT8_ENST00000296873.7_Silent_p.P218P|SEPT8_ENST00000458488.2_Silent_p.P218P|SEPT8_ENST00000378699.2_Silent_p.P158P|SEPT8_ENST00000448933.1_Silent_p.P158P			Q92599	SEPT8_HUMAN	septin 8	218					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCATCCGTGGGGAACTGGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	126	127			NA	NA	5		NA											NA				132098218		2095	4252	6347	SO:0001819	synonymous_variant			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402	23176	23176		Septins	16511	protein-coding gene	gene with protein product		608418			NA	9039502, 9149945	Standard	XM_034872	NM_001098812	NA	Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378721.4:c.648C>T	5.37:g.132098218G>A		NA	A6NC65|A6NKP6|Q8IX36|Q8IX37|Q9BVB3	37																																																																																				SEPT8-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000132831.2		-	ENST00000378721.4	Silent	SNP	5 : 132098218 - 132098218 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	438	139
SLC9C2	284525	broad.mit.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:173526501C>T	ENST00000367714.3	-	10	1615	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R296Q	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	398					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R398Q(2)			NA						TTCCACTTTTCGTTCAGCGAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(1)|skin(1)											104	113	110			NA	NA	1		NA											NA				173526501		2203	4300	6503	SO:0001583	missense			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753	284525	284525		Solute carriers	28664	protein-coding gene	gene with protein product			solute carrier family 9, isoform 11, solute carrier family 9, member 11, solute carrier family 9, member C2	SLC9A11	NA		Standard	NM_178527	NM_178527	NA	Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1193G>A	1.37:g.173526501C>T	ENSP00000356687:p.Arg398Gln	NA	Q86UF3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	4.407	0.075265	0.08485	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.20598	2.06;2.06	5.56	0.186	0.15105	Cation/H+ exchanger (1);	1.946090	0.02262	N	0.067620	T	0.02304	0.0071	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	10	0.27785	T	0.31	-0.0524	2.3114	0.04187	0.1443:0.0856:0.33:0.44	.	398	Q5TAH2	S9A11_HUMAN	Q	398;296	ENSP00000356687:R398Q;ENSP00000445437:R296Q	ENSP00000356687:R398Q	R	-	2	0	SLC9A11	171793124	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.220000	0.17660	0.067000	0.16545	-0.324000	0.08512	CGA	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084205.1		-	ENST00000367714.3	Missense_Mutation	SNP	1 : 173526501 - 173526501 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	918	220
SLIT1	6585	broad.mit.edu	37	10	98764503	98764503	+	Silent	SNP	G	G	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:98764503G>C	ENST00000266058.4	-	33	3902	c.3657C>G	c.(3655-3657)ggC>ggG	p.G1219G	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.G1219G	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1219	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACGCACATGGCCCTGGTACA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													274	194	221			NA	NA	10		NA											NA				98764503		2203	4300	6503	SO:0001819	synonymous_variant			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122	6585	6585			11085	protein-coding gene	gene with protein product		603742	slit (Drosophila) homolog 1	SLIL1	NA	9693030, 9813312	Standard	NM_003061	NM_003061	NA	Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3657C>G	10.37:g.98764503G>C		NA	Q8WWZ2|Q9UIL7	37	CCDS7453.1																																																																																			SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049636.1		-	ENST00000266058.4	Silent	SNP	10 : 98764503 - 98764503 C PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	297	89
SNRNP200	23020	broad.mit.edu	37	2	96967391	96967391	+	Missense_Mutation	SNP	G	G	A	rs150957097		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:96967391G>A	ENST00000323853.5	-	4	522	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R149W	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	149						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCTTGTCCCGCAGCTTTTCA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	158	161			NA	NA	2		NA											NA				96967391		2203	4300	6503	SO:0001583	missense			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028	23020	23020			30859	protein-coding gene	gene with protein product	U5 snRNP specific protein, 200 KD	601664	activating signal cointegrator 1 complex subunit 3-like 1, retinitis pigmentosa 33 (autosomal dominant)	ASCC3L1, RP33	NA	9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014	NM_014014	NA	Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.445C>T	2.37:g.96967391G>A	ENSP00000317123:p.Arg149Trp	NA	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994162	0.74703	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.46819	0.86;0.86	5.58	5.58	0.84498	.	0.120859	0.53938	D	0.000047	T	0.59128	0.2171	M	0.62088	1.915	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	T	0.63337	-0.6660	10	0.87932	D	0	-16.1737	18.3443	0.90315	0.0:0.0:1.0:0.0	.	149	O75643	U520_HUMAN	W	149	ENSP00000317123:R149W;ENSP00000326937:R149W	ENSP00000317123:R149W	R	-	1	2	SNRNP200	96331118	1.000000	0.71417	0.985000	0.45067	0.868000	0.49771	3.196000	0.51020	2.636000	0.89361	0.455000	0.32223	CGG	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252846.2		-	ENST00000323853.5	Missense_Mutation	SNP	2 : 96967391 - 96967391 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	669	7
SNTB1	6641	broad.mit.edu	37	8	121644818	121644818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:121644818C>T	ENST00000395601.3	-	4	1276	c.862G>A	c.(862-864)Gca>Aca	p.A288T	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.A288T	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	288	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGAACCATGCCTGGGCCGTG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	110	115			NA	NA	8		NA											NA				121644818		2203	4300	6503	SO:0001583	missense			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164	6641	6641		Pleckstrin homology (PH) domain containing	11168	protein-coding gene	gene with protein product	tax interaction protein 43	600026	syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)	SNT2B1	NA	8183929, 9482110	Standard	NM_021021	NM_021021	NA	Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.862G>A	8.37:g.121644818C>T	ENSP00000378965:p.Ala288Thr	NA	A8K9E0|O14912|Q4KMG8	37	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270243	0.59540	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.54675	0.56;0.56	6.03	6.03	0.97812	Pleckstrin homology domain (2);	0.098404	0.64402	D	0.000001	T	0.50171	0.1600	L	0.45581	1.43	0.54753	D	0.999987	B;B	0.28350	0.017;0.208	B;B	0.26310	0.013;0.068	T	0.36286	-0.9754	10	0.30854	T	0.27	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	288;288	Q13884;Q13884-2	SNTB1_HUMAN;.	T	288	ENSP00000378965:A288T;ENSP00000431124:A288T	ENSP00000378965:A288T	A	-	1	0	SNTB1	121713999	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.745000	0.47459	2.868000	0.98415	0.555000	0.69702	GCA	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381535.1		-	ENST00000395601.3	Missense_Mutation	SNP	8 : 121644818 - 121644818 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	378	5
SNTG1	54212	broad.mit.edu	37	8	51664572	51664572	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:51664572G>C	ENST00000522124.1	+	18	1957	c.1296G>C	c.(1294-1296)tgG>tgC	p.W432C	SNTG1_ENST00000518864.1_Missense_Mutation_p.W432C|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	432					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTGTCCTTTGGAGGTATAAAT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	129	127			NA	NA	8		NA											NA				51664572		2203	4300	6503	SO:0001583	missense			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481	54212	54212			13740	protein-coding gene	gene with protein product		608714			NA	10747910	Standard		NM_018967	NA	Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1296G>C	8.37:g.51664572G>C	ENSP00000429842:p.Trp432Cys	NA	Q2M3Q0|Q9NY98	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560557	0.65538	.	.	ENSG00000147481	ENST00000518864;ENST00000522124	T;T	0.78816	-1.21;-1.21	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.89183	0.3545	10	0.87932	D	0	-14.0967	17.8066	0.88602	0.0:0.0:1.0:0.0	.	432	Q9NSN8	SNTG1_HUMAN	C	432	ENSP00000429276:W432C;ENSP00000429842:W432C	ENSP00000429276:W432C	W	+	3	0	SNTG1	51827125	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.157000	0.94714	2.501000	0.84356	0.637000	0.83480	TGG	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377964.1		+	ENST00000522124.1	Missense_Mutation	SNP	8 : 51664572 - 51664572 C PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	596	121
SORCS1	114815	broad.mit.edu	37	10	108412204	108412204	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:108412204G>A	ENST00000263054.6	-	18	2418	c.2411C>T	c.(2410-2412)aCg>aTg	p.T804M	SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M|SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	804	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCATCAGCCGTGACTATCCG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	106	110			NA	NA	10		NA											NA				108412204		2203	4300	6503	SO:0001583	missense			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018	114815	114815			16697	protein-coding gene	gene with protein product		606283			NA	11499680	Standard	NM_052918	NM_001206570	NA	Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2411C>T	10.37:g.108412204G>A	ENSP00000263054:p.Thr804Met	NA	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231893	0.58777	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.69561	-0.41;-0.41;-0.41	5.74	5.74	0.90152	PKD/Chitinase domain (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	L	0.61218	1.895	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.993;0.997;0.998;0.997	T	0.78580	-0.2149	9	.	.	.	-17.2727	19.9145	0.97053	0.0:0.0:1.0:0.0	.	804;804;804;804;804	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	339;804;804	ENSP00000358712:T339M;ENSP00000263054:T804M;ENSP00000345964:T804M	.	T	-	2	0	SORCS1	108402194	1.000000	0.71417	0.959000	0.39883	0.138000	0.21146	9.277000	0.95755	2.709000	0.92574	0.655000	0.94253	ACG	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050232.4		-	ENST00000263054.6	Missense_Mutation	SNP	10 : 108412204 - 108412204 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	494	146
SQSTM1	8878	broad.mit.edu	37	5	179252186	179252186	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:179252186G>C	ENST00000389805.4	+	5	892	c.714G>C	c.(712-714)aaG>aaC	p.K238N	SQSTM1_ENST00000402874.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000360718.5_Missense_Mutation_p.K154N|SQSTM1_ENST00000510187.1_Missense_Mutation_p.K238N|SQSTM1_ENST00000376929.3_Missense_Mutation_p.K154N	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	238					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTCCTGAAGAACGTTGGGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	112	116			NA	NA	5		NA											NA				179252186		2203	4300	6503	SO:0001583	missense			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011	8878	8878			11280	protein-coding gene	gene with protein product		601530	Paget disease of bone 3, oxidative stress induced like	PDB3, OSIL	NA	8650207, 8551575	Standard		NM_003900	NA	Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.714G>C	5.37:g.179252186G>C	ENSP00000374455:p.Lys238Asn	NA	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	37	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201297	0.58234	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;T;D;D;T;D	0.83506	-1.73;1.84;-1.72;-1.73;2.33;-1.73	5.15	4.28	0.50868	.	0.267149	0.41097	N	0.000953	D	0.86590	0.5969	M	0.65498	2.005	0.58432	D	0.999996	P;D	0.63880	0.477;0.993	B;P	0.53954	0.106;0.738	D	0.87728	0.2577	10	0.72032	D	0.01	-32.8687	13.713	0.62680	0.0746:0.0:0.9254:0.0	.	238;238	Q13501;E7EMC7	SQSTM_HUMAN;.	N	154;154;238;94;154;238;154	ENSP00000366128:K154N;ENSP00000427308:K154N;ENSP00000374455:K238N;ENSP00000385553:K154N;ENSP00000424477:K238N;ENSP00000353944:K154N	ENSP00000353944:K154N	K	+	3	2	SQSTM1	179184792	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	3.988000	0.56951	1.167000	0.42706	0.561000	0.74099	AAG	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319344.1		+	ENST00000389805.4	Missense_Mutation	SNP	5 : 179252186 - 179252186 C PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	459	117
STK16	8576	broad.mit.edu	37	2	220113194	220113194	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:220113194G>A	ENST00000409260.1	+	7	1074	c.966G>A	c.(964-966)ccG>ccA	p.P322P	STK16_ENST00000409743.1_Silent_p.P245P|STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409516.3_Silent_p.P159P|STK16_ENST00000409638.3_Silent_p.P277P			O75716	STK16_HUMAN	serine/threonine kinase 16	277					protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGACCCGCATCAGCGTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(34;887 922 17165 36961 39622)							NA				0													106	113	111			NA	NA	2		NA											NA				220113194		2073	4207	6280	SO:0001819	synonymous_variant			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661	8576	8576			11394	protein-coding gene	gene with protein product		604719			NA	9712705	Standard		NM_001008910	NA	Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409260.1:c.966G>A	2.37:g.220113194G>A		NA	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	37																																																																																				STK16-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335685.1		+	ENST00000409260.1	Silent	SNP	2 : 220113194 - 220113194 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	622	6
STXBP6	29091	broad.mit.edu	37	14	25325303	25325303	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:25325303G>A	ENST00000323944.5	-	4	741	c.290C>T	c.(289-291)tCg>tTg	p.S97L	STXBP6_ENST00000419632.2_Missense_Mutation_p.S97L|STXBP6_ENST00000396700.1_Missense_Mutation_p.S97L|STXBP6_ENST00000550887.1_Missense_Mutation_p.S97L|STXBP6_ENST00000548724.1_Missense_Mutation_p.S97L|STXBP6_ENST00000546511.1_Missense_Mutation_p.S97L|STXBP6_ENST00000358326.2_Missense_Mutation_p.S97L			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	97					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		AAACTCTGCCGAATCCTGGAA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	61	63			NA	NA	14		NA											NA				25325303		2203	4300	6503	SO:0001583	missense			AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952	NA	29091			19666	protein-coding gene	gene with protein product		607958			NA	12145319	Standard		NM_014178	NA	Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.290C>T	14.37:g.25325303G>A	ENSP00000324302:p.Ser97Leu	NA	D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	37	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781990	0.49891	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.15	5.15	0.70609	.	0.189920	0.47455	D	0.000223	T	0.33147	0.0853	N	0.14661	0.345	0.50171	D	0.999858	P	0.34587	0.458	B	0.14578	0.011	T	0.28299	-1.0048	9	0.48119	T	0.1	0.0641	16.1225	0.81369	0.0:0.0:1.0:0.0	.	97	Q8NFX7	STXB6_HUMAN	L	97	.	ENSP00000324302:S97L	S	-	2	0	STXBP6	24395143	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.030000	0.64128	2.405000	0.81733	0.563000	0.77884	TCG	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409166.1		-	ENST00000323944.5	Missense_Mutation	SNP	14 : 25325303 - 25325303 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	234	6
SUPT20H	55578	broad.mit.edu	37	13	37586344	37586344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:37586344G>A	ENST00000360252.4	-	24	2333	c.2086C>T	c.(2086-2088)Cag>Tag	p.Q696*	SUPT20H_ENST00000475892.1_Nonsense_Mutation_p.Q774*|SUPT20H_ENST00000464744.1_Nonsense_Mutation_p.Q696*|SUPT20H_ENST00000356185.3_Nonsense_Mutation_p.Q696*|SUPT20H_ENST00000350612.6_Nonsense_Mutation_p.Q695*	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)	NA											NA						GCCTGTGACTGCATAAAACTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	183	182			NA	NA	13		NA											NA				37586344		2203	4300	6503	SO:0001587	stop_gained			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710	55578	55578			20596	protein-coding gene	gene with protein product	p38 interacting protein, transcription factor (p38 interacting protein)	613417	chromosome 13 open reading frame 19, family with sequence similarity 48, member A	C13orf19, FAM48A	NA	12070015 , 16685401	Standard	NM_017569	NM_001278480	NA	Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000360252.4:c.2086C>T	13.37:g.37586344G>A	ENSP00000353388:p.Gln696*	NA		37	CCDS9362.1	.	.	.	.	.	.	.	.	.	.	G	41	8.681527	0.98912	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	.	.	.	5.78	5.78	0.91487	.	0.418879	0.27354	N	0.019752	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7218	14.2012	0.65705	0.0712:0.0:0.9288:0.0	.	.	.	.	X	696;774;695;696;695;696	.	ENSP00000218894:Q695X	Q	-	1	0	FAM48A	36484344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.248000	0.65421	2.744000	0.94065	0.563000	0.77884	CAG	SUPT20H-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044548.2		-	ENST00000360252.4	Nonsense_Mutation	SNP	13 : 37586344 - 37586344 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	919	6
TBC1D22A	25771	broad.mit.edu	37	22	47189570	47189570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:47189570G>A	ENST00000337137.4	+	3	458	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.A79T|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.A98T|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.A51T	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	98						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CATGGAGACGGCCAACCGTGT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	37	39			NA	NA	22		NA											NA				47189570		2203	4300	6503	SO:0001583	missense			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611	25771	25771			1309	protein-coding gene	gene with protein product			chromosome 22 open reading frame 4	C22orf4	NA		Standard	NM_014346	XM_005261496	NA	Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.292G>A	22.37:g.47189570G>A	ENSP00000336724:p.Ala98Thr	NA	B0QYI2|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260204	0.95368	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.52295	1.71;0.67;1.27;0.99;1.71	4.8	4.8	0.61643	.	0.053327	0.85682	D	0.000000	T	0.68787	0.3039	M	0.79475	2.455	0.80722	D	1	P;D;D;P	0.76494	0.87;0.998;0.999;0.87	P;D;D;P	0.70935	0.542;0.969;0.971;0.542	T	0.71813	-0.4479	10	0.52906	T	0.07	-6.3978	16.6066	0.84831	0.0:0.0:1.0:0.0	.	98;79;98;98	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	T	98;51;98;79;51	ENSP00000336724:A98T;ENSP00000370383:A51T;ENSP00000384036:A98T;ENSP00000347932:A79T;ENSP00000385634:A51T	ENSP00000336724:A98T	A	+	1	0	TBC1D22A	45568234	1.000000	0.71417	0.734000	0.30879	0.788000	0.44548	8.819000	0.91997	2.484000	0.83849	0.609000	0.83330	GCC	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317600.3		+	ENST00000337137.4	Missense_Mutation	SNP	22 : 47189570 - 47189570 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	215	5
TIAM1	7074	broad.mit.edu	37	21	32513695	32513695	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr21:32513695C>A	ENST00000286827.3	-	22	4074	c.3603G>T	c.(3601-3603)agG>agT	p.R1201S	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1141S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1201	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGAACAGCTCCCTGAGCAGAA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	120	126			NA	NA	21		NA											NA				32513695		2203	4300	6503	SO:0001583	missense				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299	7074	7074		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	11805	protein-coding gene	gene with protein product		600687			NA	8595894, 15340013	Standard	NM_003253	NM_003253	NA	Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3603G>T	21.37:g.32513695C>A	ENSP00000286827:p.Arg1201Ser	NA	Q17RT7	37	CCDS13609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149449|3.149449	0.57151|0.57151	.|.	.|.	ENSG00000156299|ENSG00000156299	ENST00000399841|ENST00000286827;ENST00000541036	.|T;T	.|0.68181	.|-0.31;-0.31	5.54|5.54	4.6|4.6	0.57074|0.57074	.|Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	.|0.286916	.|0.38663	.|N	.|0.001620	.|T	.|0.49779	.|0.1577	L|L	0.28740|0.28740	0.885|0.885	0.45580|0.45580	D|D	0.998526|0.998526	.|P;P;B	.|0.38195	.|0.568;0.622;0.393	.|B;B;B	.|0.35770	.|0.133;0.21;0.137	.|T	.|0.53641	.|-0.8410	.|10	0.87932|0.54805	D|T	0|0.06	.|.	6.7797|6.7797	0.23638|0.23638	0.0:0.7003:0.1511:0.1486|0.0:0.7003:0.1511:0.1486	.|.	.|1141;1141;1201	.|F5GZ53;B7ZLR6;Q13009	.|.;.;TIAM1_HUMAN	X|S	1041|1201;1141	.|ENSP00000286827:R1201S;ENSP00000441570:R1141S	ENSP00000382735:G1041X|ENSP00000286827:R1201S	G|R	-|-	1|3	0|2	TIAM1|TIAM1	31435566|31435566	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	1.201000|1.201000	0.32259|0.32259	2.590000|2.590000	0.87494|0.87494	0.563000|0.563000	0.77884|0.77884	GGA|AGG	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000192552.1		-	ENST00000286827.3	Missense_Mutation	SNP	21 : 32513695 - 32513695 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	478	191
TMEM214	54867	broad.mit.edu	37	2	27259437	27259437	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:27259437C>T	ENST00000238788.9	+	6	865	c.803C>T	c.(802-804)gCc>gTc	p.A268V	TMEM214_ENST00000404032.3_Missense_Mutation_p.A223V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	268						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCAGGTTTTGCCAACCTCACC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	99	99			NA	NA	2		NA											NA				27259437		1938	4140	6078	SO:0001583	missense				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777	54867	54867			25983	protein-coding gene	gene with protein product					NA	23661706	Standard	NM_017727	NM_001083590	NA	Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.803C>T	2.37:g.27259437C>T	ENSP00000238788:p.Ala268Val	NA	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	37	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.596|9.596	1.127379|1.127379	0.20959|0.20959	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397|ENST00000425720	T;T|.	0.42131|.	0.98;0.98|.	5.55|5.55	2.24|2.24	0.28232|0.28232	.|.	0.863457|.	0.10873|.	N|.	0.624759|.	T|T	0.23846|0.23846	0.0577|0.0577	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.12837|.	0.006;0.008|.	T|T	0.23297|0.23297	-1.0192|-1.0192	10|5	0.22706|.	T|.	0.39|.	-0.0745|-0.0745	9.7642|9.7642	0.40550|0.40550	0.0:0.7292:0.1201:0.1507|0.0:0.7292:0.1201:0.1507	.|.	223;268|.	Q6NUQ4-2;Q6NUQ4|.	.;TM214_HUMAN|.	V|S	268;223;10|27	ENSP00000238788:A268V;ENSP00000384417:A223V|.	ENSP00000238788:A268V|.	A|P	+|+	2|1	0|0	TMEM214|TMEM214	27112941|27112941	0.001000|0.001000	0.12720|0.12720	0.400000|0.400000	0.26346|0.26346	0.988000|0.988000	0.76386|0.76386	1.447000|1.447000	0.35101|0.35101	0.687000|0.687000	0.31509|0.31509	0.561000|0.561000	0.74099|0.74099	GCC|CCA	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324748.1		+	ENST00000238788.9	Missense_Mutation	SNP	2 : 27259437 - 27259437 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	717	6
TOMM40L	84134	broad.mit.edu	37	1	161197719	161197719	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:161197719C>T	ENST00000367988.3	+	6	693	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	TOMM40L_ENST00000367987.1_Missense_Mutation_p.R142W|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R108W|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	142					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGCGAGTATCGGGGAGATGA	0.517		NA									OREG0013943	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													60	56	57			NA	NA	1		NA											NA				161197719		2203	4300	6503	SO:0001583	missense				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882	84134	84134			25756	protein-coding gene	gene with protein product			translocase of outer mitochondrial membrane 40 homolog-like (yeast)		NA		Standard	NM_032174	NM_032174	NA	Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.424C>T	1.37:g.161197719C>T	ENSP00000356967:p.Arg142Trp	1814	D3DVG9	37	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552943	0.65425	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.46819	0.86;0.86;0.86	5.91	4.99	0.66335	.	0.053759	0.64402	D	0.000001	T	0.34716	0.0907	M	0.74881	2.28	0.47214	D	0.999355	P;P;P	0.43431	0.807;0.807;0.807	B;B;B	0.40506	0.331;0.331;0.331	T	0.41716	-0.9493	9	0.42905	T	0.14	-26.3182	11.9964	0.53206	0.3146:0.6854:0.0:0.0	.	108;24;142	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	W	142;108;89;142	ENSP00000356967:R142W;ENSP00000443233:R108W;ENSP00000356966:R142W	ENSP00000356966:R142W	R	+	1	2	TOMM40L	159464343	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.184000	0.42575	1.475000	0.48197	0.655000	0.94253	CGG	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083029.1		+	ENST00000367988.3	Missense_Mutation	SNP	1 : 161197719 - 161197719 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	388	65
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67	58	61			NA	NA	17		NA											NA				7577120		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.818G>A	17.37:g.7577120C>T	ENSP00000391127:p.Arg273His	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577120 - 7577120 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	127	56
TSHZ3	57616	broad.mit.edu	37	19	31768582	31768582	+	Missense_Mutation	SNP	G	G	A	rs112525703		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:31768582G>A	ENST00000240587.4	-	2	2444	c.2117C>T	c.(2116-2118)aCg>aTg	p.T706M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	706					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GATGATGGCCGTGCTGCCACT	0.627		NA											G	2	9e-04	0.0041	NA	2184	NA	0.9996	,	,	NA	3e-04	NA	NA	NA	7e-04	0.8498	EXOME	NA	NA	0.004	SNP								NA				0													52	52	52			NA	NA	19		NA											NA				31768582		2203	4300	6503	SO:0001583	missense			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297	57616	57616		Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type	30700	protein-coding gene	gene with protein product	teashirt 3	614119	zinc finger protein 537, teashirt family zinc finger 3	ZNF537	NA		Standard	NM_020856	NM_020856	NA	Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2117C>T	19.37:g.31768582G>A	ENSP00000240587:p.Thr706Met	NA	Q9H0G6|Q9P254	37	CCDS12421.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.95	3.514351	0.64522	.	.	ENSG00000121297	ENST00000240587	T	0.38722	1.12	5.4	5.4	0.78164	.	5.739330	0.00951	N	0.002966	T	0.67961	0.2949	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.49652	-0.8917	10	0.54805	T	0.06	-23.6274	19.176	0.93603	0.0:0.0:1.0:0.0	.	706	Q63HK5	TSH3_HUMAN	M	706	ENSP00000240587:T706M	ENSP00000240587:T706M	T	-	2	0	TSHZ3	36460422	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.441000	0.97557	2.520000	0.84964	0.650000	0.86243	ACG	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316743.2		-	ENST00000240587.4	Missense_Mutation	SNP	19 : 31768582 - 31768582 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	433	126
TUBA3C	7278	broad.mit.edu	37	13	19751421	19751421	+	Silent	SNP	G	G	A	rs142245280		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:19751421G>A	ENST00000400113.3	-	4	806	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	234					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGAGGACACGATCTGCCCAA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		3,4403	6.2+/-15.9	0,3,2200	179	151	161		702	0.3	1	13	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	TUBA3C	NM_006001.2		0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231		234/451	19751421	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033	7278	7278		Tubulins	12408	protein-coding gene	gene with protein product		602528	tubulin, alpha 2	TUBA2	NA	9465305	Standard	NM_006001	NM_006001	NA	Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.702C>T	13.37:g.19751421G>A		NA	A6NJQ0|Q5W099|Q6PEY3|Q96F18	37	CCDS9284.1																																																																																			TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044007.2		-	ENST00000400113.3	Silent	SNP	13 : 19751421 - 19751421 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	912	266
UNC50	25972	broad.mit.edu	37	2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:99226304G>A	ENST00000409975.1	+	1	1263	c.133G>A	c.(133-135)Gga>Aga	p.G45R	UNC50_ENST00000357765.2_Missense_Mutation_p.G28R|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	168	168			NA	NA	2		NA											NA				99226304		2203	4300	6503	SO:0001583	missense				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446	25972	25972			16046	protein-coding gene	gene with protein product					NA	10980252	Standard	NM_014044	NM_014044	NA	Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000409975.1:c.133G>A	2.37:g.99226304G>A	ENSP00000387146:p.Gly45Arg	NA	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	37		.	.	.	.	.	.	.	.	.	.	G	32	5.111883	0.94339	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.55309	-0.8161	9	0.13853	T	0.58	-9.4319	18.0646	0.89387	0.0:0.0:1.0:0.0	.	28	Q53HI1	UNC50_HUMAN	R	28;45;45	.	ENSP00000350409:G28R	G	+	1	0	UNC50	98592736	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.343000	0.79319	2.505000	0.84491	0.591000	0.81541	GGA	UNC50-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000329560.1		+	ENST00000409975.1	Missense_Mutation	SNP	2 : 99226304 - 99226304 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	889	5
UQCR10	29796	broad.mit.edu	37	22	30163538	30163538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:30163538G>A	ENST00000401406.3	+	1	176	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	UQCR10_ENST00000330029.6_Splice_Site			Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	0					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						CAACGAGGGGGTGAGGGCCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	22		NA											NA				30163538		1978	4146	6124	SO:0001583	missense			AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076	29796	29796		Mitochondrial respiratory chain complex / Complex III	30863	protein-coding gene	gene with protein product	ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa, complex III subunit 9	610843			NA	11042152	Standard	NM_013387	NM_013387	NA	Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000401406.3:c.151G>A	22.37:g.30163538G>A	ENSP00000384962:p.Val51Met	NA	B5MCM5|Q9T2V6	37	CCDS46681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.629653|4.629653	0.87660|0.87660	.|.	.|.	ENSG00000184076|ENSG00000184076	ENST00000332801;ENST00000330029|ENST00000401406;ENST00000406782	.|T	.|0.42900	.|0.96	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65091	.|0.2658	.|.	.|.	.|.	0.26591|0.26591	N|N	0.973192|0.973192	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	.|T	.|0.59789	.|-0.7388	.|8	.|0.72032	.|D	.|0.01	.|-3.6042	15.4576|15.4576	0.75327|0.75327	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|51	.|Q9UDW1-2	.|.	.|M	-1|51	.|ENSP00000384962:V51M	.|ENSP00000384962:V51M	.|V	+|+	.|1	.|0	UQCR10|UQCR10	28493538|28493538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.615000|7.615000	0.83006|0.83006	2.720000|2.720000	0.93068|0.93068	0.558000|0.558000	0.71614|0.71614	.|GTG	UQCR10-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322082.2		+	ENST00000401406.3	Missense_Mutation	SNP	22 : 30163538 - 30163538 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	143	14
USH1G	124590	broad.mit.edu	37	17	72915717	72915717	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:72915717G>A	ENST00000319642.1	-	2	1396	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	405	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGAGGGCGGCAAAGTCCTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	43	44			NA	NA	17		NA											NA				72915717		2203	4298	6501	SO:0001583	missense			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040	124590	124590		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	16356	protein-coding gene	gene with protein product		607696			NA	12588794	Standard	NM_173477	NM_001282489	NA	Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1214C>T	17.37:g.72915717G>A	ENSP00000320076:p.Ala405Val	NA	Q8N251	37	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910112	0.17833	.	.	ENSG00000182040	ENST00000319642	T	0.49139	0.79	4.53	0.999	0.19862	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.770174	0.12427	N	0.469921	T	0.18800	0.0451	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16424	-1.0403	10	0.28530	T	0.3	-6.1315	3.7981	0.08747	0.2204:0.5:0.2796:0.0	.	405	Q495M9	USH1G_HUMAN	V	405	ENSP00000320076:A405V	ENSP00000320076:A405V	A	-	2	0	USH1G	70427312	0.662000	0.27439	0.015000	0.15790	0.947000	0.59692	3.769000	0.55303	0.479000	0.27511	0.555000	0.69702	GCC	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443676.1		-	ENST00000319642.1	Missense_Mutation	SNP	17 : 72915717 - 72915717 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	294	5
VARS	7407	broad.mit.edu	37	6	31760017	31760017	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:31760017G>A	ENST00000375663.3	-	6	1288	c.848C>T	c.(847-849)cCa>cTa	p.P283L	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	283					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGGTGGGGTTGGGAGGTCATA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	80	80			NA	NA	6		NA											NA				31760017		1511	2709	4220	SO:0001583	missense			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	7407	7407	6.1.1.9	Aminoacyl tRNA synthetases / Class I	12651	protein-coding gene	gene with protein product	valine tRNA ligase 1, cytoplasmic	192150	valyl-tRNA synthetase 2	VARS2	NA	15779907	Standard	NM_006295	XM_005249362	NA	Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.848C>T	6.37:g.31760017G>A	ENSP00000364815:p.Pro283Leu	NA	B0V1N1|Q5JQ90|Q96E77|Q9UQM2	37	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025223	0.54683	.	.	ENSG00000204394	ENST00000375663	T	0.04234	3.67	5.25	4.36	0.52297	.	0.058877	0.64402	D	0.000002	T	0.03095	0.0091	M	0.61703	1.905	0.80722	D	1	B	0.20671	0.047	B	0.14578	0.011	T	0.16660	-1.0395	10	0.54805	T	0.06	-15.574	12.7975	0.57567	0.0:0.0:0.835:0.165	.	283	P26640	SYVC_HUMAN	L	283	ENSP00000364815:P283L	ENSP00000364815:P283L	P	-	2	0	VARS	31867996	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.919000	0.70005	1.166000	0.42689	0.313000	0.20887	CCA	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076619.2		-	ENST00000375663.3	Missense_Mutation	SNP	6 : 31760017 - 31760017 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	460	13
WFIKKN1	117166	broad.mit.edu	37	16	683104	683104	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:683104C>T	ENST00000319070.2	+	2	1016	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	232	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CCTGATCATGCGCCCTGATCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	34	34			NA	NA	16		NA											NA				683104		2193	4281	6474	SO:0001583	missense			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578	117166	117166		Immunoglobulin superfamily / I-set domain containing, WAP four-disulfide core domain containing	30912	protein-coding gene	gene with protein product	WAP four-disulfide core domain 20A	608021	chromosome 16 open reading frame 12	C16orf12	NA	11274388, 11928817	Standard	NM_053284	NM_053284	NA	Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.694C>T	16.37:g.683104C>T	ENSP00000324763:p.Arg232Cys	NA	Q7LDW0|Q8NBQ1|Q96S20	37	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.763443	0.49574	.	.	ENSG00000127578	ENST00000319070	T	0.70631	-0.5	4.71	3.71	0.42584	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057277	0.64402	D	0.000003	T	0.81163	0.4765	M	0.72624	2.21	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.82752	-0.0302	10	0.72032	D	0.01	.	11.0862	0.48089	0.3279:0.6721:0.0:0.0	.	232	Q96NZ8	WFKN1_HUMAN	C	232	ENSP00000324763:R232C	ENSP00000324763:R232C	R	+	1	0	WFIKKN1	623105	0.996000	0.38824	0.990000	0.47175	0.767000	0.43475	0.491000	0.22419	2.174000	0.68829	0.486000	0.48141	CGC	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206731.2		+	ENST00000319070.2	Missense_Mutation	SNP	16 : 683104 - 683104 T PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	284	4
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000369680.4_Silent_p.C502C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	502					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - coding silent(4)	lung(4)											174	154	161			NA	NA	10		NA											NA				111630550		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	7511	7511	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	X-prolyl aminopeptidase (aminopeptidase P)-like	XPNPEP, XPNPEPL1, XPNPEPL	NA		Standard		NM_020383	NA	Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>T	10.37:g.111630550G>A		NA	O15250|Q53EX6|Q8N3Q0|Q96D23	37	CCDS7560.2																																																																																			XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050264.2		-	ENST00000502935.1	Silent	SNP	10 : 111630550 - 111630550 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	585	10
ZFP64	55734	broad.mit.edu	37	20	50769918	50769918	+	Silent	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:50769918G>A	ENST00000216923.4	-	6	1162	c.813C>T	c.(811-813)agC>agT	p.S271S	ZFP64_ENST00000371515.4_Silent_p.S269S|ZFP64_ENST00000346617.4_Silent_p.S217S|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCAAGTCCGAGCTGATTTTGA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	49	50			NA	NA	20		NA											NA				50769918		2203	4300	6503	SO:0001819	synonymous_variant			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256	55734	55734		Zinc fingers, C2H2-type	15940	protein-coding gene	gene with protein product			zinc finger protein 338, zinc finger protein 64 homolog (mouse), zinc finger protein 64	ZNF338	NA	9034307	Standard	NM_018197	NM_199427	NA	Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.813C>T	20.37:g.50769918G>A		NA	Q9NTS7|Q9NVH4	37	CCDS13440.1																																																																																			ZFP64-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079744.1		-	ENST00000216923.4	Silent	SNP	20 : 50769918 - 50769918 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	390	90
ZNF544	27300	broad.mit.edu	37	19	58773560	58773560	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:58773560T>A	ENST00000600220.1	+	5	1738	c.1504T>A	c.(1504-1506)Tcc>Acc	p.S502T	ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.S530T|ZNF544_ENST00000269829.4_Missense_Mutation_p.S530T|ZNF544_ENST00000415203.2_Missense_Mutation_p.S502T|ZNF544_ENST00000599953.1_Missense_Mutation_p.S388T|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.S502T|ZNF544_ENST00000596929.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	530					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)		GAAATCCTTCTCCCAGAGTTC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	87	86			NA	NA	19		NA											NA				58773560		2203	4300	6503	SO:0001583	missense			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.1504T>A	19.37:g.58773560T>A	ENSP00000471684:p.Ser502Thr	NA	A8K6J1|Q9UEX4	37		.	.	.	.	.	.	.	.	.	.	T	4.531	0.098532	0.08681	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.07216	3.21;3.21	2.8	-1.2	0.09554	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.02202	-0.64	0.09310	N	0.999998	B;B;B	0.17852	0.001;0.024;0.024	B;B;B	0.19946	0.003;0.027;0.027	T	0.46345	-0.9198	9	0.29301	T	0.29	.	8.5507	0.33449	0.2584:0.0:0.0:0.7416	.	502;502;530	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	T	530;502	ENSP00000269829:S530T;ENSP00000394341:S502T	ENSP00000269829:S530T	S	+	1	0	ZNF544	63465372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.883000	0.04170	-0.077000	0.12752	-0.717000	0.03617	TCC	ZNF544-006	NOVEL	alternative_5_UTR|basic	protein_coding	NA	protein_coding	OTTHUMT00000466756.1		+	ENST00000600220.1	Missense_Mutation	SNP	19 : 58773560 - 58773560 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	653	7
ZNF594	84622	broad.mit.edu	37	17	5085387	5085387	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:5085387G>A	ENST00000399604.4	-	1	2305	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	ZNF594_ENST00000575779.1_Missense_Mutation_p.A722V			Q96JF6	ZN594_HUMAN	zinc finger protein 594	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTGAGGAAAGCCGTGTGCCA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	148	145			NA	NA	17		NA											NA				5085387		2157	4284	6441	SO:0001583	missense			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626	84622	84622		Zinc fingers, C2H2-type	29392	protein-coding gene	gene with protein product					NA	11347906	Standard	XM_290737	NM_032530	NA	Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2165C>T	17.37:g.5085387G>A	ENSP00000382513:p.Ala722Val	NA	Q6RFS0	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	1.376	-0.584769	0.03827	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.28666	1.6	1.17	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15003	0.0362	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21245	-1.0251	9	0.28530	T	0.3	.	3.8079	0.08785	0.0:0.276:0.5078:0.2162	.	722	Q96JF6	ZN594_HUMAN	V	722;289	ENSP00000382513:A722V	ENSP00000373874:A289V	A	-	2	0	ZNF594	5026111	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.467000	0.00461	-1.230000	0.02561	-1.706000	0.00718	GCT	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438996.1		-	ENST00000399604.4	Missense_Mutation	SNP	17 : 5085387 - 5085387 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	605	6
ZNF687	57592	broad.mit.edu	37	1	151259929	151259929	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:151259929G>A	ENST00000368879.2	+	2	1260	c.1162G>A	c.(1162-1164)Gta>Ata	p.V388I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGGTGAGCGTACAGTTGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	64	67			NA	NA	1		NA											NA				151259929		2203	4300	6503	SO:0001583	missense				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373	57592	57592			29277	protein-coding gene	gene with protein product		610568			NA	10718198	Standard	NM_020832	NM_020832	NA	Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1162G>A	1.37:g.151259929G>A	ENSP00000357874:p.Val388Ile	NA	D3DV17|Q68DQ8|Q9H937|Q9P2A7	37		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613923	0.46631	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.92	5.27	5.27	0.74061	.	0.000000	0.32161	N	0.006495	T	0.01254	0.0041	L	0.44542	1.39	0.23089	N	0.998319	D;P;D	0.76494	0.996;0.954;0.999	P;B;P	0.56514	0.743;0.422;0.8	T	0.58312	-0.7658	9	.	.	.	.	17.8288	0.88674	0.0:0.0:1.0:0.0	.	388;388;388	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	I	388	ENSP00000336620:V388I;ENSP00000319829:V388I;ENSP00000357874:V388I	.	V	+	1	0	ZNF687	149526553	0.997000	0.39634	0.218000	0.23776	0.669000	0.39330	4.051000	0.57412	2.758000	0.94735	0.561000	0.74099	GTA	ZNF687-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000368879.2	Missense_Mutation	SNP	1 : 151259929 - 151259929 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	503	5
ZNF750	79755	broad.mit.edu	37	17	80788076	80788076	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:80788076G>A	ENST00000269394.3	-	3	2947	c.2114C>T	c.(2113-2115)gCg>gTg	p.A705V	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A306V|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	705						intracellular	zinc ion binding	p.A705V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGCAGCTTCGCCTTCTTAGC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											122	101	108			NA	NA	17		NA											NA				80788076		2203	4300	6503	SO:0001583	missense			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579	79755	79755			25843	protein-coding gene	gene with protein product		610226			NA	16751772	Standard	NM_024702	NM_024702	NA	Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.2114C>T	17.37:g.80788076G>A	ENSP00000269394:p.Ala705Val	NA	Q9H899	37	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209835	0.06140	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.11604	2.76	5.28	-0.647	0.11468	.	1.559540	0.03792	N	0.263027	T	0.06690	0.0171	L	0.27053	0.805	0.09310	N	1	B	0.24132	0.098	B	0.14578	0.011	T	0.33599	-0.9862	9	.	.	.	0.0083	1.0216	0.01519	0.3312:0.2658:0.2669:0.136	.	705	Q32MQ0	ZN750_HUMAN	V	705;298	ENSP00000269394:A705V	.	A	-	2	0	ZNF750	78381365	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.130000	0.10498	-0.019000	0.14055	-0.339000	0.08088	GCG	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439074.2		-	ENST00000269394.3	Missense_Mutation	SNP	17 : 80788076 - 80788076 A PAAD-TCGA-IB-A6UF-Tumor-SM-5437F	350	149
