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
ACE2	59272	broad.mit.edu	37	X	15609901	15609901	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:15609901C>T	ENST00000252519.3	-	4	620	c.518G>A	c.(517-519)gGc>gAc	p.G173D	ACE2_ENST00000427411.1_Missense_Mutation_p.G173D			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	173					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAGCTGCTTGCCGACCTCAGA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													225	213	217			NA	NA	X		NA											NA				15609901		2203	4300	6503	SO:0001583	missense			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	59272	59272	3.4.17.23		13557	protein-coding gene	gene with protein product	peptidyl-dipeptidase A	300335	angiotensin I converting enzyme (peptidyl-dipeptidase A) 2		NA	10969042	Standard		NM_021804	NA	Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.518G>A	X.37:g.15609901C>T	ENSP00000252519:p.Gly173Asp	NA	Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235622	0.79800	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.54675	0.56;0.56	6.14	4.32	0.51571	.	0.100559	0.64402	D	0.000002	T	0.79851	0.4517	H	0.95645	3.7	0.37703	D	0.924291	D	0.69078	0.997	D	0.71870	0.975	D	0.87137	0.2200	10	0.87932	D	0	-12.7296	14.7704	0.69671	0.2632:0.7368:0.0:0.0	.	173	Q9BYF1	ACE2_HUMAN	D	173	ENSP00000252519:G173D;ENSP00000389326:G173D	ENSP00000252519:G173D	G	-	2	0	ACE2	15519822	1.000000	0.71417	0.959000	0.39883	0.955000	0.61496	5.243000	0.65395	0.660000	0.30964	0.596000	0.82720	GGC	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055867.1		-	ENST00000252519.3	Missense_Mutation	SNP	X : 15609901 - 15609901 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1268	7
ACIN1	22985	broad.mit.edu	37	14	23528647	23528647	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:23528647T>G	ENST00000262710.1	-	19	4063	c.3736A>C	c.(3736-3738)Aag>Cag	p.K1246Q	ACIN1_ENST00000357481.2_Missense_Mutation_p.K488Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.K487Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.K519Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.K1206Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.K1233Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.K488Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.K1188Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1246	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		tcccgctccttGGCCCGTTCG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	83	87			NA	NA	14		NA											NA				23528647		2203	4300	6503	SO:0001583	missense			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813	22985	22985			17066	protein-coding gene	gene with protein product	functional spliceosome-associated protein 152	604562	apoptotic chromatin condensation inducer in the nucleus	ACINUS	NA	9734811, 10490026	Standard	NM_014977	NM_014977	NA	Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3736A>C	14.37:g.23528647T>G	ENSP00000262710:p.Lys1246Gln	NA	D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476246	0.44044	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.18	4.18	0.49190	.	0.336627	0.21615	N	0.071728	T	0.33933	0.0880	L	0.29908	0.895	0.42293	D	0.992148	P;P;P;P;P	0.51351	0.944;0.906;0.906;0.476;0.476	P;B;B;B;B	0.47470	0.548;0.346;0.346;0.071;0.071	T	0.03795	-1.1003	10	0.23302	T	0.38	-11.8368	9.4065	0.38464	0.0:0.0:0.1791:0.8209	.	1233;1246;1206;519;488	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	Q	487;519;488;1246;1206;488;1233	ENSP00000451138:K487Q;ENSP00000345541:K519Q;ENSP00000350073:K488Q;ENSP00000262710:K1246Q;ENSP00000405677:K1206Q;ENSP00000380502:K488Q;ENSP00000451328:K1233Q	ENSP00000262710:K1246Q	K	-	1	0	ACIN1	22598487	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.190000	0.58365	1.881000	0.54492	0.379000	0.24179	AAG	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071707.3		-	ENST00000262710.1	Missense_Mutation	SNP	14 : 23528647 - 23528647 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	269	62
ACKR4	51554	broad.mit.edu	37	3	132319910	132319910	+	Silent	SNP	A	A	G	rs149577867	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:132319910A>G	ENST00000249887.2	+	2	765	c.669A>G	c.(667-669)acA>acG	p.T223T	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4	NA								p.T223T(1)			NA						ACTTTATCACAGCAAGGACAC	0.388		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)											82	81	81			NA	NA	3		NA											NA				132319910		2203	4298	6501	SO:0001819	synonymous_variant			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048	51554	51554		GPCR / Class A : Chemokine receptors : Atypical	1611	protein-coding gene	gene with protein product		606065	chemokine (C-C motif) receptor-like 1	CCRL1	NA	10767544, 16148	Standard	NM_016557	NM_016557	NA	Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.669A>G	3.37:g.132319910A>G		NA		37	CCDS3075.1																																																																																			ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357238.2		+	ENST00000249887.2	Silent	SNP	3 : 132319910 - 132319910 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	555	29
ACTBL2	345651	broad.mit.edu	37	5	56778497	56778497	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:56778497T>C	ENST00000423391.1	-	1	139	c.38A>G	c.(37-39)aAt>aGt	p.N13S	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	13						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCCTGACCCATTATCCACTAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	59	66			NA	NA	5		NA											NA				56778497		2203	4300	6503	SO:0001583	missense				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067	345651	345651			17780	protein-coding gene	gene with protein product		614835			NA		Standard	NM_001017992	NM_001017992	NA	Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.38A>G	5.37:g.56778497T>C	ENSP00000416706:p.Asn13Ser	NA	B2RPJ1|Q562R2|Q562S9|Q562X8	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949343	0.53186	.	.	ENSG00000169067	ENST00000423391	D	0.97665	-4.48	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	D	0.98040	0.9354	M	0.93854	3.465	0.49798	D	0.999821	B	0.26318	0.146	B	0.40741	0.339	D	0.98614	1.0664	10	0.87932	D	0	.	12.977	0.58542	0.0:0.0:0.0:1.0	.	13	Q562R1	ACTBL_HUMAN	S	13	ENSP00000416706:N13S	ENSP00000416706:N13S	N	-	2	0	ACTBL2	56814254	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.054000	0.71096	2.156000	0.67533	0.460000	0.39030	AAT	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368579.1		-	ENST00000423391.1	Missense_Mutation	SNP	5 : 56778497 - 56778497 C PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	188	19
ACTL9	284382	broad.mit.edu	37	19	8807880	8807880	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:8807880C>T	ENST00000324436.3	-	1	1292	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	391						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CTGGAAGGCGCGCAGGGAGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	40	39			NA	NA	19		NA											NA				8807880		2203	4299	6502	SO:0001583	missense				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786	284382	284382			28494	protein-coding gene	gene with protein product					NA		Standard	NM_178525	NM_178525	NA	Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1172G>A	19.37:g.8807880C>T	ENSP00000316674:p.Arg391His	NA	A8K893|Q6X960	37	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	12.78	2.040034	0.35989	.	.	ENSG00000181786	ENST00000324436	T	0.07800	3.16	4.51	2.32	0.28847	.	0.317190	0.22565	U	0.058402	T	0.05456	0.0144	N	0.20845	0.615	0.25834	N	0.984134	B	0.25521	0.128	B	0.23419	0.046	T	0.30650	-0.9971	10	0.87932	D	0	.	7.217	0.25965	0.0:0.5778:0.3287:0.0934	.	391	Q8TC94	ACTL9_HUMAN	H	391	ENSP00000316674:R391H	ENSP00000316674:R391H	R	-	2	0	ACTL9	8668880	0.005000	0.15991	0.279000	0.24732	0.748000	0.42578	0.594000	0.24014	0.592000	0.29728	0.457000	0.33378	CGC	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459953.1		-	ENST00000324436.3	Missense_Mutation	SNP	19 : 8807880 - 8807880 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	277	37
ADAM2	2515	broad.mit.edu	37	8	39626997	39626997	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:39626997G>A	ENST00000379853.2	-	8	772	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	ADAM2_ENST00000265708.4_Missense_Mutation_p.R376C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C|ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C			Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	376	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGATCTAAGCGAGGCTGATTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	136	142			NA	NA	8		NA											NA				39626997		2203	4300	6503	SO:0001583	missense			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755	2515	2515		ADAM metallopeptidase domain containing	198	protein-coding gene	gene with protein product	cancer/testis antigen 15	601533	fertilin beta	FTNB	NA	8702389, 9070941	Standard	NM_001464	NM_001278113	NA	Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000379853.2:c.748C>T	8.37:g.39626997G>A	ENSP00000369182:p.Arg250Cys	NA	P78326|Q9UQQ8	37		.	.	.	.	.	.	.	.	.	.	G	13.10	2.134834	0.37728	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02258	4.99;4.37;5.23;5.19	5.11	3.29	0.37713	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.08044	0.0201	M	0.81802	2.56	0.09310	N	0.999999	P;D;D;P	0.69078	0.955;0.997;0.973;0.955	P;P;P;P	0.55667	0.608;0.649;0.781;0.608	T	0.18241	-1.0343	8	.	.	.	.	6.5366	0.22357	0.0932:0.0:0.7281:0.1787	.	376;250;357;376	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	C	357;250;376;376	ENSP00000343854:R357C;ENSP00000369182:R250C;ENSP00000265708:R376C;ENSP00000429352:R376C	.	R	-	1	0	ADAM2	39746154	0.001000	0.12720	0.048000	0.18961	0.292000	0.27327	0.361000	0.20267	0.635000	0.30488	0.650000	0.86243	CGC	ADAM2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000376925.1		-	ENST00000379853.2	Missense_Mutation	SNP	8 : 39626997 - 39626997 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	247	11
ALX4	60529	broad.mit.edu	37	11	44286499	44286499	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:44286499C>G	ENST00000329255.3	-	4	1244	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	381					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCGTTGAGCTCGTAGCCATTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	52	54			NA	NA	11		NA											NA				44286499		2203	4299	6502	SO:0001583	missense			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850	60529	60529		Homeoboxes / PRD class	450	protein-coding gene	gene with protein product		605420	parietal foramina 2, aristaless-like homeobox 4	PFM2	NA	11017806, 8644736	Standard		NM_021926	NA	Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1141G>C	11.37:g.44286499C>G	ENSP00000332744:p.Glu381Gln	NA	Q96JN7|Q9H198|Q9HAY9	37	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455312	0.84209	.	.	ENSG00000052850	ENST00000329255	D	0.90563	-2.69	5.19	5.19	0.71726	.	0.059235	0.64402	D	0.000002	D	0.90903	0.7141	L	0.46157	1.445	0.42428	D	0.992668	D	0.53312	0.959	P	0.54759	0.76	D	0.89026	0.3438	10	0.28530	T	0.3	.	13.9861	0.64337	0.1515:0.8485:0.0:0.0	.	381	Q9H161	ALX4_HUMAN	Q	381	ENSP00000332744:E381Q	ENSP00000332744:E381Q	E	-	1	0	ALX4	44243075	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.538000	0.67193	2.575000	0.86900	0.561000	0.74099	GAG	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390399.1		-	ENST00000329255.3	Missense_Mutation	SNP	11 : 44286499 - 44286499 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	355	14
AMFR	267	broad.mit.edu	37	16	56401435	56401435	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:56401435G>A	ENST00000290649.5	-	12	1730	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	507					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GATGCTATCTGACCGCTGGAA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(2;144 323 39528)							NA				0													258	242	248			NA	NA	16		NA											NA				56401435		2198	4300	6498	SO:0001583	missense			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461	267	267		RING-type (C3HC4) zinc fingers	463	protein-coding gene	gene with protein product		603243	autocrine motility factor receptor		NA	1649192	Standard		NM_001144	NA	Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1520C>T	16.37:g.56401435G>A	ENSP00000290649:p.Ser507Leu	NA	Q8IZ70	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241135	0.39598	.	.	ENSG00000159461	ENST00000290649	T	0.14266	2.52	5.8	5.8	0.92144	.	0.647010	0.15443	N	0.262073	T	0.15825	0.0381	L	0.44542	1.39	0.39616	D	0.96996	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.07424	-1.0773	10	0.27785	T	0.31	-7.4232	18.2436	0.89977	0.0:0.0:1.0:0.0	.	507;156	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	L	507	ENSP00000290649:S507L	ENSP00000290649:S507L	S	-	2	0	AMFR	54958936	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	4.726000	0.61986	2.735000	0.93741	0.655000	0.94253	TCA	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256978.2		-	ENST00000290649.5	Missense_Mutation	SNP	16 : 56401435 - 56401435 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1009	25
AMOT	154796	broad.mit.edu	37	X	112024240	112024240	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:112024240G>A	ENST00000304758.1	-	10	1915	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	AMOT_ENST00000371962.1_Missense_Mutation_p.R551W|AMOT_ENST00000524145.1_Missense_Mutation_p.R783W|AMOT_ENST00000371959.3_Missense_Mutation_p.R783W|AMOT_ENST00000371958.1_Missense_Mutation_p.R551W	NM_133265.2	NP_573572.1	Q4VCS5	AMOT_HUMAN	angiomotin	783					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCGCTGGCCGCATGCACGAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													207	189	195			NA	NA	X		NA											NA				112024240		2203	4300	6503	SO:0001583	missense			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016	154796	154796			17810	protein-coding gene	gene with protein product		300410			NA	11257124, 16043488, 12406577	Standard	NM_133265	NM_001113490	NA	Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000304758.1:c.1120C>T	X.37:g.112024240G>A	ENSP00000305557:p.Arg374Trp	NA	Q504X5|Q9HD27|Q9UPT1	37	CCDS14563.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593064	0.66219	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214;ENST00000371958	T;T;T;T;T	0.39406	1.08;1.38;1.62;1.38;1.16	5.69	0.432	0.16529	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63498	0.2516	M	0.78456	2.415	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.68138	-0.5488	10	0.62326	D	0.03	-17.5991	15.835	0.78791	0.0:0.0:0.3271:0.6729	.	783	Q4VCS5	AMOT_HUMAN	W	374;783;551;783;23;551	ENSP00000305557:R374W;ENSP00000361027:R783W;ENSP00000361030:R551W;ENSP00000429013:R783W;ENSP00000361026:R551W	ENSP00000305557:R374W	R	-	1	2	AMOT	111910896	0.992000	0.36948	0.996000	0.52242	0.894000	0.52154	0.225000	0.17757	-0.064000	0.13043	-0.205000	0.12727	CGG	AMOT-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057950.1		-	ENST00000304758.1	Missense_Mutation	SNP	X : 112024240 - 112024240 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1066	8
ANAPC2	29882	broad.mit.edu	37	9	140082360	140082360	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:140082360G>C	ENST00000323927.2	-	2	317	c.313C>G	c.(313-315)Ccc>Gcc	p.P105A		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	105					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGGCACTGGGGCTCATCCGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	93	92			NA	NA	9		NA											NA				140082360		2203	4300	6503	SO:0001583	missense			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248	29882	29882		Anaphase promoting complex subunits	19989	protein-coding gene	gene with protein product		606946			NA	11739784	Standard	NM_013366	NM_013366	NA	Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.313C>G	9.37:g.140082360G>C	ENSP00000314004:p.Pro105Ala	NA	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452889	0.26161	.	.	ENSG00000176248	ENST00000323927	T	0.70399	-0.48	5.09	5.09	0.68999	.	0.187678	0.48767	D	0.000169	T	0.57007	0.2024	L	0.40543	1.245	0.31326	N	0.685481	B	0.06786	0.001	B	0.04013	0.001	T	0.52003	-0.8633	10	0.07482	T	0.82	-30.4898	11.8137	0.52197	0.0:0.1774:0.8226:0.0	.	105	Q9UJX6	ANC2_HUMAN	A	105	ENSP00000314004:P105A	ENSP00000314004:P105A	P	-	1	0	ANAPC2	139202181	1.000000	0.71417	0.983000	0.44433	0.770000	0.43624	2.929000	0.48916	2.365000	0.80145	0.561000	0.74099	CCC	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055315.1		-	ENST00000323927.2	Missense_Mutation	SNP	9 : 140082360 - 140082360 C PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	246	32
ANKRD24	170961	broad.mit.edu	37	19	4216640	4216640	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:4216640G>A	ENST00000600132.1	+	18	1759	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	ANKRD24_ENST00000318934.4_Missense_Mutation_p.E495K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E585K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	495										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCTCCGGGCCGAGTTTGACCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LYS/GLU	0,4002		0,0,2001	28	29	29		1483	4.6	0.9	19		29	1,8337		0,1,4168	no	missense	ANKRD24	NM_133475.1	56	0,1,6169	AA,AG,GG	NA	0.012,0.0,0.0081	probably-damaging	495/1147	4216640	1,12339	2001	4169	6170	SO:0001583	missense			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847	170961	170961		Ankyrin repeat domain containing	29424	protein-coding gene	gene with protein product					NA	11853319	Standard	XM_114000	NM_133475	NA	Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1483G>A	19.37:g.4216640G>A	ENSP00000471252:p.Glu495Lys	NA	O75268|O95781	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.362717	0.82353	0.0	1.2E-4	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.71817	0.38;-0.6	4.6	4.6	0.57074	.	0.000000	0.34460	N	0.003942	T	0.75213	0.3819	L	0.29908	0.895	0.45415	D	0.998398	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.74968	-0.3483	10	0.39692	T	0.17	-25.7121	14.5191	0.67840	0.0:0.0:1.0:0.0	.	495;585	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	K	495;585	ENSP00000321731:E495K;ENSP00000262970:E585K	ENSP00000262970:E585K	E	+	1	0	ANKRD24	4167640	1.000000	0.71417	0.899000	0.35326	0.825000	0.46686	5.855000	0.69510	2.288000	0.76882	0.313000	0.20887	GAG	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458188.1		+	ENST00000600132.1	Missense_Mutation	SNP	19 : 4216640 - 4216640 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	56	8
ANKRD27	84079	broad.mit.edu	37	19	33134064	33134064	+	Silent	SNP	A	A	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:33134064A>T	ENST00000306065.4	-	9	905	c.747T>A	c.(745-747)ctT>ctA	p.L249L	ANKRD27_ENST00000587352.1_Silent_p.L249L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	249	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTTCTGCTGAAGATCTTGAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	126	126			NA	NA	19		NA											NA				33134064		2203	4300	6503	SO:0001819	synonymous_variant			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186	84079	84079		Ankyrin repeat domain containing	25310	protein-coding gene	gene with protein product	Vps9 domain and ankyrin-repeat-containing protein				NA	11230166, 16525121	Standard	NM_032139	NM_032139	NA	Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.747T>A	19.37:g.33134064A>T		NA	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	37	CCDS32986.1																																																																																			ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450329.1		-	ENST00000306065.4	Silent	SNP	19 : 33134064 - 33134064 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	409	14
ATE1	11101	broad.mit.edu	37	10	123503198	123503198	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:123503198G>A	ENST00000369043.3	-	12	1640	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N	ATE1_ENST00000369040.3_Silent_p.N422N|ATE1_ENST00000224652.6_Silent_p.N518N|ATE1_ENST00000535655.1_Silent_p.N219N|ATE1_ENST00000543447.1_Silent_p.N403N|ATE1_ENST00000540606.1_Silent_p.N511N	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	518					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GAACAGGTCAGTTTCTGAACA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	60	64			NA	NA	10		NA											NA				123503198		2203	4300	6503	SO:0001819	synonymous_variant			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	11101	11101	2.3.2.8		782	protein-coding gene	gene with protein product		607103			NA	16002466, 16943202	Standard	NM_001001976	XM_005269458	NA	Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000369043.3:c.1554C>T	10.37:g.123503198G>A		NA	O95261|Q5SQQ3|Q8WW04	37	CCDS31299.1																																																																																			ATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050738.1		-	ENST00000369043.3	Silent	SNP	10 : 123503198 - 123503198 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	217	14
ATXN7	6314	broad.mit.edu	37	3	63965627	63965627	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:63965627C>T	ENST00000295900.6	+	6	1086	c.536C>T	c.(535-537)gCc>gTc	p.A179V	ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000398590.3_Missense_Mutation_p.A179V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A34V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A179V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A179V	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	179	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCGCCTTTGGCCGTTCCTCCC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	83	84			NA	NA	3		NA											NA				63965627		1937	4154	6091	SO:0001583	missense			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635	6314	6314		Ataxins	10560	protein-coding gene	gene with protein product		607640	spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)	SCA7	NA	7647798, 10598805	Standard	NM_000333	NM_000333	NA	Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.536C>T	3.37:g.63965627C>T	ENSP00000295900:p.Ala179Val	NA	O75328|O75329|Q9Y6P8	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935887	0.52972	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.76	2.88	0.33553	.	0.320067	0.33272	N	0.005081	T	0.19725	0.0474	N	0.22421	0.69	0.27381	N	0.955401	B;B;B;B	0.18166	0.026;0.026;0.023;0.013	B;B;B;B	0.20577	0.03;0.03;0.013;0.006	T	0.17623	-1.0363	10	0.72032	D	0.01	-1.6019	8.2048	0.31446	0.1278:0.738:0.0:0.1342	.	34;34;179;179	E9PHP9;B4E207;O15265-2;O15265	.;.;.;ATX7_HUMAN	V	179;179;179;179;34	ENSP00000381590:A179V;ENSP00000295900:A179V;ENSP00000420234:A179V;ENSP00000439585:A179V;ENSP00000428277:A34V	ENSP00000295900:A179V	A	+	2	0	ATXN7	63940667	0.973000	0.33851	0.935000	0.37517	0.708000	0.40852	2.074000	0.41529	0.798000	0.33994	0.655000	0.94253	GCC	ATXN7-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352070.1		+	ENST00000295900.6	Missense_Mutation	SNP	3 : 63965627 - 63965627 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	366	5
AWAT2	158835	broad.mit.edu	37	X	69261709	69261709	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:69261709C>T	ENST00000276101.3	-	7	956	c.951G>A	c.(949-951)caG>caA	p.Q317Q		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	317						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TGGTCTTATGCTGGTCAAACA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(80;1334 1436 9350 24214 26427)							NA				0													152	119	130			NA	NA	X		NA											NA				69261709		2203	4300	6503	SO:0001819	synonymous_variant			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160	158835	158835			23251	protein-coding gene	gene with protein product	multifunctional O-acyltransferase	300925	diacylglycerol O-acyltransferase 2-like 4	DGAT2L4	NA	14970677, 16106050, 15671038	Standard	NM_001002254	NM_001002254	NA	Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.951G>A	X.37:g.69261709C>T		NA	Q6IEE3|Q6P437	37	CCDS35320.1																																																																																			AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358738.1		-	ENST00000276101.3	Silent	SNP	X : 69261709 - 69261709 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	289	5
BRINP2	57795	broad.mit.edu	37	1	177245375	177245375	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:177245375G>A	ENST00000361539.4	+	6	1129	c.817G>A	c.(817-819)Gta>Ata	p.V273I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	273											NA						TGAGCGCTTTGTAGCTGCAGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	61	64			NA	NA	1		NA											NA				177245375		2203	4300	6503	SO:0001583	missense				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797	57795	57795			13746	protein-coding gene	gene with protein product			family with sequence similarity 5, member B	FAM5B	NA	15193423	Standard	NM_021165	NM_021165	NA	Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.817G>A	1.37:g.177245375G>A	ENSP00000354481:p.Val273Ile	NA		37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270045	0.95429	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19938	2.11	6.07	6.07	0.98685	Membrane attack complex component/perforin (MACPF) domain (1);	0.058877	0.64402	D	0.000002	T	0.47857	0.1468	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.958;0.984	D;P;D	0.83275	0.996;0.744;0.967	T	0.25433	-1.0132	10	0.62326	D	0.03	-18.9893	20.239	0.98366	0.0:0.0:1.0:0.0	.	23;168;273	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	I	23;273	ENSP00000354481:V273I	ENSP00000354481:V273I	V	+	1	0	FAM5B	175511998	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.860000	0.86993	2.884000	0.98904	0.655000	0.94253	GTA	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084599.1		+	ENST00000361539.4	Missense_Mutation	SNP	1 : 177245375 - 177245375 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	657	44
CACNA1C	775	broad.mit.edu	37	12	2566843	2566843	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:2566843G>A	ENST00000399655.1	+	5	993	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CACNA1C_ENST00000399606.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R243H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R243H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R243H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R243H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	243					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCGTGCTGCGCCCCCTGCGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	183	176			NA	NA	12		NA											NA				2566843		2142	4235	6377	SO:0001583	missense			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.728G>A	12.37:g.2566843G>A	ENSP00000382563:p.Arg243His	NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834960	0.91036	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.15	4.15	0.48705	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.99965	5.09	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.996;1.0;0.997;0.998;0.993;0.998;1.0;1.0;0.998;0.994;0.998;1.0;0.998;1.0;0.989;0.998;0.998;0.993;0.993	D	0.95822	0.8850	10	0.87932	D	0	.	16.6608	0.85240	0.0:0.0:1.0:0.0	.	243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;84	ENSP00000336982:R243H;ENSP00000382563:R243H;ENSP00000437936:R243H;ENSP00000382552:R243H;ENSP00000382547:R243H;ENSP00000382506:R243H;ENSP00000382530:R243H;ENSP00000382546:R243H;ENSP00000382500:R243H;ENSP00000382549:R243H;ENSP00000266376:R243H;ENSP00000382515:R243H;ENSP00000382510:R243H;ENSP00000341092:R243H;ENSP00000382537:R243H;ENSP00000329877:R243H;ENSP00000382557:R243H;ENSP00000385724:R243H;ENSP00000382512:R243H;ENSP00000382542:R243H;ENSP00000382526:R243H;ENSP00000385896:R243H;ENSP00000382504:R243H	ENSP00000323129:R84H	R	+	2	0	CACNA1C	2437104	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	9.542000	0.98086	2.139000	0.66308	0.563000	0.77884	CGC	CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Missense_Mutation	SNP	12 : 2566843 - 2566843 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	991	65
CALCB	797	broad.mit.edu	37	11	14991575	14991575	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:14991575C>T	ENST00000523376.1	+	6	817				CALCA_ENST00000396372.2_Missense_Mutation_p.D45N|CALCA_ENST00000361010.3_Missense_Mutation_p.D45N|CALCA_ENST00000359642.3_Missense_Mutation_p.D45N|CALCA_ENST00000331587.4_Missense_Mutation_p.D45N|CALCA_ENST00000486207.1_Missense_Mutation_p.D45N			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	NA					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CGCGCTTCGTCCTCACTGAGC	0.647		NA									OREG0020791	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													41	41	41			NA	NA	11		NA											NA				14991575		2200	4294	6494	SO:0001627	intron_variant				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868	797	797		Endogenous ligands	1438	protein-coding gene	gene with protein product		114160	calcitonin 2	CALC2	NA		Standard	NM_000728	NM_000728	NA	Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000523376.1:c.-445-7862C>T	11.37:g.14991575C>T		699	A8K573|D3DQX4|Q569I0|Q9UCN9	37		.	.	.	.	.	.	.	.	.	.	C	14.19	2.460413	0.43736	.	.	ENSG00000110680	ENST00000486207;ENST00000361010;ENST00000359642;ENST00000331587;ENST00000396372	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	4.83	3.86	0.44501	.	0.545783	0.21140	N	0.079485	T	0.14313	0.0346	L	0.31926	0.97	0.80722	D	1	B;B	0.27316	0.175;0.084	B;B	0.27170	0.052;0.077	T	0.08472	-1.0720	10	0.30078	T	0.28	-17.1724	6.4121	0.21696	0.2889:0.6144:0.0:0.0967	.	45;45	P01258;P06881	CALC_HUMAN;CALCA_HUMAN	N	45	ENSP00000417833:D45N;ENSP00000354286:D45N;ENSP00000352663:D45N;ENSP00000331746:D45N;ENSP00000379657:D45N	ENSP00000331746:D45N	D	-	1	0	CALCA	14948151	0.968000	0.33430	0.098000	0.21074	0.081000	0.17604	2.326000	0.43849	1.312000	0.45043	0.655000	0.94253	GAC	CALCB-001	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000379293.21		+	ENST00000523376.1	Intron	SNP	11 : 14991575 - 14991575 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	116	48
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	NA							ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Unknown(2)	lung(2)											44	70	61			NA	NA	9		NA											NA				164038		1423	2635	4058	SO:0001630	splice_region_variant			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785	55871	55871			17134	protein-coding gene	gene with protein product		611078			NA	15233989, 12421752	Standard	NM_018491	NM_018491	NA	Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000377447.3:c.431-1G>C	9.37:g.164038C>G		NA	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	37		.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.	CBWD1-017	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000051472.1	Intron	-	ENST00000377447.3	Splice_Site	SNP	9 : 164038 - 164038 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	802	8
CCDC28A	25901	broad.mit.edu	37	6	139101019	139101019	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:139101019G>A	ENST00000332797.6	+	3	644	c.489G>A	c.(487-489)ccG>ccA	p.P163P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	163										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGTCAACTCCGATCCAGCACT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	114	118			NA	NA	6		NA											NA				139101019		2203	4300	6503	SO:0001819	synonymous_variant			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862	25901	25901			21098	protein-coding gene	gene with protein product		615353	chromosome 6 open reading frame 80	C6orf80	NA		Standard	NM_015439	NM_015439	NA	Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.489G>A	6.37:g.139101019G>A		NA	E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	37	CCDS5192.1																																																																																			CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042444.1		+	ENST00000332797.6	Silent	SNP	6 : 139101019 - 139101019 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	445	5
CCSER2	54462	broad.mit.edu	37	10	86132185	86132185	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:86132185C>T	ENST00000224756.8	+	2	1562	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	CCSER2_ENST00000372088.2_Silent_p.A459A|CCSER2_ENST00000359979.4_Silent_p.A459A	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2			coiled-coil serine-rich protein 2	NA											NA						ATGAAAAAGCCTTCAGTAAAA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	92	88			NA	NA	10		NA											NA				86132185		2203	4296	6499	SO:0001819	synonymous_variant				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771	54462	54462			29197	protein-coding gene	gene with protein product			KIAA1128, family with sequence similarity 190, member B	KIAA1128, FAM190B	NA	10574461	Standard	NM_018999	XM_005269905	NA	Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1377C>T	10.37:g.86132185C>T		NA		37	CCDS31235.1																																																																																			CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049132.2		+	ENST00000224756.8	Silent	SNP	10 : 86132185 - 86132185 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	711	36
CD1B	910	broad.mit.edu	37	1	158299919	158299919	+	Splice_Site	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:158299919G>A	ENST00000368168.3	-	3	437	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	110					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCTCAAAGGGGTCTATGTAGA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	137	136			NA	NA	1		NA											NA				158299919		2203	4300	6503	SO:0001630	splice_region_variant			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485	910	910		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1635	protein-coding gene	gene with protein product		188360	CD1B antigen, b polypeptide, CD1b antigen	CD1	NA	2447586	Standard	NM_001764	NM_001764	NA	Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.329-1C>T	1.37:g.158299919G>A		NA	Q5TDK9|Q5TDL0|Q9UMM2	37	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	1.531	-0.544230	0.04024	.	.	ENSG00000158485	ENST00000451207	.	.	.	4.45	-3.42	0.04825	.	.	.	.	.	T	0.25717	0.0626	.	.	.	0.38491	D	0.947979	.	.	.	.	.	.	T	0.31081	-0.9956	4	.	.	.	.	5.1937	0.15225	0.5354:0.0:0.3163:0.1484	.	.	.	.	S	78	.	.	P	-	1	0	CD1B	156566543	0.141000	0.22595	0.289000	0.24876	0.417000	0.31264	-1.396000	0.02513	-0.854000	0.04131	0.655000	0.94253	CCC	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046350.2	Silent	-	ENST00000368168.3	Splice_Site	SNP	1 : 158299919 - 158299919 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1287	34
CDC27	996	broad.mit.edu	37	17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L173S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGTTCTGTAAAGATGTGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	NS(1)											77	77	77			NA	NA	17		NA											NA				45234708		2203	4300	6503	SO:0001583	missense			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897	996	996		Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing	1728	protein-coding gene	gene with protein product	anaphase promoting complex subunit 3	116946	cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae)	D0S1430E, D17S978E	NA	8234252	Standard		XM_005257892	NA	Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.518T>C	17.37:g.45234708A>G	ENSP00000066544:p.Leu173Ser	NA	Q16349|Q96F35	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822437	0.50739	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69175	-0.37;-0.34;-0.17;-0.38;0.74	5.39	5.39	0.77823	.	0.250879	0.32328	N	0.006250	T	0.52980	0.1768	L	0.29908	0.895	0.50313	D	0.99986	P;B;B;B	0.38250	0.624;0.119;0.057;0.072	B;B;B;B	0.34590	0.186;0.143;0.083;0.062	T	0.54241	-0.8323	10	0.33141	T	0.24	-12.8267	13.3763	0.60741	1.0:0.0:0.0:0.0	.	112;173;173;173	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	173;173;112;173;173	ENSP00000066544:L173S;ENSP00000434614:L173S;ENSP00000392802:L112S;ENSP00000437339:L173S;ENSP00000432105:L173S	ENSP00000066544:L173S	L	-	2	0	CDC27	42589707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.315000	0.89983	2.053000	0.61076	0.528000	0.53228	TTA	CDC27-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389742.2		-	ENST00000066544.3	Missense_Mutation	SNP	17 : 45234708 - 45234708 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	326	5
CDH9	1007	broad.mit.edu	37	5	26890658	26890658	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(8;187 585 15745 40864 52829)							NA				0													85	86	86			NA	NA	5		NA											NA				26890658		2203	4300	6503	SO:0001819	synonymous_variant			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100	1007	1007		Cadherins / Major cadherins	1768	protein-coding gene	gene with protein product		609974			NA	2059658	Standard	NM_016279	NM_016279	NA	Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1269G>A	5.37:g.26890658C>T		NA	Q3B7I5	37	CCDS3893.1																																																																																			CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207352.1		-	ENST00000231021.4	Silent	SNP	5 : 26890658 - 26890658 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	482	5
CECR1	51816	broad.mit.edu	37	22	17669277	17669277	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr22:17669277C>T	ENST00000399839.1	-	7	1303	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	CECR1_ENST00000262607.3_Missense_Mutation_p.A345T|CECR1_ENST00000449907.2_Missense_Mutation_p.A303T|CECR1_ENST00000399837.2_Missense_Mutation_p.A345T|CECR1_ENST00000330232.4_Missense_Mutation_p.A104T	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	345					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCATCCTTGGCGGGGATCATC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	78	84			NA	NA	22		NA											NA				17669277		2203	4300	6503	SO:0001583	missense			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072	51816	51816			1839	protein-coding gene	gene with protein product		607575		IDGFL	NA	10756095	Standard		NM_001282225	NA	Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1033G>A	22.37:g.17669277C>T	ENSP00000382733:p.Ala345Thr	NA	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228346	0.06022	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	4.24	-1.32	0.09201	Adenosine/AMP deaminase (1);	0.973928	0.08462	N	0.942354	T	0.68081	0.2962	L	0.38838	1.175	0.09310	N	1	B;B	0.20887	0.049;0.008	B;B	0.10450	0.005;0.002	T	0.49224	-0.8962	10	0.12766	T	0.61	.	3.2155	0.06697	0.2619:0.3322:0.0:0.406	.	345;104	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	T	345;104;345;303;345	ENSP00000382733:A345T;ENSP00000332871:A104T;ENSP00000262607:A345T;ENSP00000406443:A303T;ENSP00000382731:A345T	ENSP00000262607:A345T	A	-	1	0	CECR1	16049277	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.129000	0.15830	0.143000	0.18926	0.561000	0.74099	GCC	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316079.1		-	ENST00000399839.1	Missense_Mutation	SNP	22 : 17669277 - 17669277 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	322	8
CNGA3	1261	broad.mit.edu	37	2	99013711	99013711	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:99013711A>G	ENST00000409937.1	+	8	2231	c.2090A>G	c.(2089-2091)cAa>cGa	p.Q697R	CNGA3_ENST00000436404.2_Missense_Mutation_p.Q675R|CNGA3_ENST00000272602.2_Missense_Mutation_p.Q693R|CNGA3_ENST00000393504.1_Missense_Mutation_p.Q693R			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	693					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGGACAAACAACAGTGAAAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	30	29			NA	NA	2		NA											NA				99013711		2203	4300	6503	SO:0001583	missense			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191	1261	1261		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2	NA	7532814, 9517456, 16382102	Standard	NM_001298	NM_001298	NA	Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000409937.1:c.2090A>G	2.37:g.99013711A>G	ENSP00000386761:p.Gln697Arg	NA	Q53RD2|Q9UP64	37		.	.	.	.	.	.	.	.	.	.	A	17.02	3.281297	0.59758	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97553	-4.27;-4.21;-4.27;-4.43	5.18	-1.08	0.09936	.	1.144930	0.06868	N	0.800336	D	0.90195	0.6935	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29716	0.255;0.0;0.0	B;B;B	0.16722	0.016;0.001;0.001	T	0.81933	-0.0706	10	0.10377	T	0.69	.	0.7756	0.01031	0.4129:0.1827:0.2527:0.1518	.	697;675;693	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	R	693;675;693;697	ENSP00000377140:Q693R;ENSP00000410070:Q675R;ENSP00000272602:Q693R;ENSP00000386761:Q697R	ENSP00000272602:Q693R	Q	+	2	0	CNGA3	98380143	0.000000	0.05858	0.000000	0.03702	0.853000	0.48598	0.012000	0.13287	-0.316000	0.08690	0.533000	0.62120	CAA	CNGA3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000329558.1		+	ENST00000409937.1	Missense_Mutation	SNP	2 : 99013711 - 99013711 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	143	7
CPE	1363	broad.mit.edu	37	4	166418761	166418761	+	Nonstop_Mutation	SNP	A	A	T	rs34858186		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:166418761A>T	ENST00000402744.4	+	9	1710	c.1430A>T	c.(1429-1431)tAa>tTa	p.*477L		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	0					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTAAATTTTTAAAAAGGCTTC	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	51	50			NA	NA	4		NA											NA				166418761		2201	4292	6493	SO:0001578	stop_lost			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	1363	1363	3.4.17.10		2303	protein-coding gene	gene with protein product	carboxypeptidase H, enkephalin convertase, insulin granule-associated carboxypeptidase, cobalt-stimulated chromaffin granule carboxypeptidase	114855			NA	2334405	Standard	NM_001873	NM_001873	NA	Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1430A>T	4.37:g.166418761A>T	ENSP00000386104:p.*477Leuext*4	NA	A8K4N1|B3KR42|D3DP33|Q9UIU9	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808900	0.31961	.	.	ENSG00000109472	ENST00000402744	.	.	.	5.76	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.884	0.35392	0.8565:0.0:0.1435:0.0	.	.	.	.	L	477	.	.	X	+	2	2	CPE	166638211	1.000000	0.71417	0.896000	0.35187	0.550000	0.35303	3.556000	0.53734	1.019000	0.39547	-0.250000	0.11733	TAA	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317094.2		+	ENST00000402744.4	Nonstop_Mutation	SNP	4 : 166418761 - 166418761 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	172	43
CXorf23	256643	broad.mit.edu	37	X	19955570	19955570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:19955570G>T	ENST00000379682.4	-	8	1859	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CXorf23_ENST00000356980.3_Intron|CXorf23_ENST00000379687.3_Intron			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	609						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTAAAATTTGATTTTATAAA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	41	44			NA	NA	X		NA											NA				19955570		692	1572	2264	SO:0001587	stop_gained			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681	256643	256643			27413	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_198279	NM_198279	NA	Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1826C>A	X.37:g.19955570G>T	ENSP00000369004:p.Ser609*	NA	A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	37		.	.	.	.	.	.	.	.	.	.	G	19.99	3.928330	0.73327	.	.	ENSG00000173681	ENST00000379682	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.43480	D	0.995702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6845	0.45835	0.0912:0.0:0.9088:0.0	.	.	.	.	X	609	.	.	S	-	2	0	CXorf23	19865491	0.998000	0.40836	0.587000	0.28692	0.095000	0.18619	4.275000	0.58927	2.293000	0.77203	0.538000	0.68166	TCA	CXorf23-006	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000055991.2		-	ENST00000379682.4	Nonsense_Mutation	SNP	X : 19955570 - 19955570 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	204	29
DIAPH1	1729	broad.mit.edu	37	5	140963116	140963116	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:140963116G>A	ENST00000389054.3	-	5	609	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DIAPH1_ENST00000253811.6_Missense_Mutation_p.R157W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R157W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W			O60610	DIAP1_HUMAN	diaphanous-related formin 1	157	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATATCCCGCAAGCCTGAC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	111	110			NA	NA	5		NA											NA				140963116		2014	4200	6214	SO:0001583	missense			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504	1729	1729			2876	protein-coding gene	gene with protein product		602121	diaphanous (Drosophila, homolog) 1, diaphanous homolog 1 (Drosophila)	DFNA1	NA	9360932, 1350680	Standard	NM_005219	NM_005219	NA	Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000389054.3:c.469C>T	5.37:g.140963116G>A	ENSP00000373706:p.Arg157Trp	NA	A6NF18|B7ZKW2|Q59FH8|Q9UC76	37		.	.	.	.	.	.	.	.	.	.	G	19.47	3.834334	0.71373	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.56	3.57	0.40892	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.171760	0.32836	N	0.005598	D	0.88916	0.6567	L	0.44542	1.39	0.35503	D	0.799987	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.965	D	0.91005	0.4845	10	0.66056	D	0.02	.	9.3401	0.38074	0.0:0.1161:0.5492:0.3347	.	148;157	E9PEZ2;O60610	.;DIAP1_HUMAN	W	157;103;148;148;148;157;157;148;103	ENSP00000373706:R157W;ENSP00000429282:R103W;ENSP00000381570:R148W;ENSP00000373709:R148W;ENSP00000381572:R148W;ENSP00000381565:R157W;ENSP00000253811:R157W;ENSP00000428268:R148W;ENSP00000430587:R103W	ENSP00000253811:R157W	R	-	1	2	DIAPH1	140943300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.957000	0.29215	1.340000	0.45581	0.460000	0.39030	CGG	DIAPH1-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000313771.3		-	ENST00000389054.3	Missense_Mutation	SNP	5 : 140963116 - 140963116 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	732	6
DOCK9	23348	broad.mit.edu	37	13	99566593	99566593	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:99566593C>T	ENST00000376460.1	-	9	1029	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	DOCK9_ENST00000339416.2_Missense_Mutation_p.E318K|DOCK9_ENST00000448493.2_Missense_Mutation_p.E329K|DOCK9_ENST00000442173.1_Missense_Mutation_p.E317K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	318					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGCAAGTTCCGGCAGGTAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	13		NA											NA				99566593		1887	4109	5996	SO:0001583	missense			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387	23348	23348		Pleckstrin homology (PH) domain containing	14132	protein-coding gene	gene with protein product	zizimin1	607325			NA	12172552, 12432077	Standard	NM_015296	NM_015296	NA	Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.949G>A	13.37:g.99566593C>T	ENSP00000365643:p.Glu317Lys	NA	Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243118	0.79912	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.20598	2.41;2.49;2.06;2.06	6.16	6.16	0.99307	.	0.695998	0.14892	N	0.292369	T	0.29620	0.0739	M	0.68317	2.08	0.54753	D	0.999985	B;B;B;B;B	0.22983	0.038;0.032;0.078;0.004;0.008	B;B;B;B;B	0.23018	0.043;0.013;0.013;0.018;0.01	T	0.04840	-1.0923	9	.	.	.	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	318;317;317;317;318	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	K	317;318;318;318;317;318;329;317	ENSP00000365643:E317K;ENSP00000341086:E318K;ENSP00000401958:E329K;ENSP00000406883:E317K	.	E	-	1	0	DOCK9	98364594	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.097000	0.64542	2.937000	0.99478	0.650000	0.86243	GAA	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045566.1		-	ENST00000376460.1	Missense_Mutation	SNP	13 : 99566593 - 99566593 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	56	6
DPT	1805	broad.mit.edu	37	1	168698178	168698178	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:168698178G>A	ENST00000367817.3	-	1	324	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	79	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGTGGCGTGGGCATGCAGGCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	129	141			NA	NA	1		NA											NA				168698178		2203	4300	6503	SO:0001583	missense			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196	1805	1805			3011	protein-coding gene	gene with protein product		125597			NA	8104875	Standard	NM_001937	NM_001937	NA	Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.235C>T	1.37:g.168698178G>A	ENSP00000356791:p.Pro79Ser	NA	A8K981|Q8N4R2|Q9UIX8	37	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089043	0.55968	.	.	ENSG00000143196	ENST00000367817	T	0.41065	1.01	5.0	5.0	0.66597	.	0.056024	0.64402	D	0.000001	T	0.32406	0.0828	L	0.54323	1.7	0.44562	D	0.997526	P	0.50819	0.939	P	0.50934	0.654	T	0.25047	-1.0143	9	0.06365	T	0.9	-6.6201	17.894	0.88881	0.0:0.0:1.0:0.0	.	79	Q07507	DERM_HUMAN	S	79	ENSP00000356791:P79S	ENSP00000356791:P79S	P	-	1	0	DPT	166964802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.152000	0.71812	2.293000	0.77203	0.655000	0.94253	CCC	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083618.1		-	ENST00000367817.3	Missense_Mutation	SNP	1 : 168698178 - 168698178 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	871	6
EFNB2	1948	broad.mit.edu	37	13	107148161	107148161	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:107148161A>G	ENST00000245323.4	-	3	583	c.434T>C	c.(433-435)cTg>cCg	p.L145P		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	145					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTGGTTATCCAGGCCCTCCAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	217	225			NA	NA	13		NA											NA				107148161		2203	4300	6503	SO:0001583	missense			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266	1948	1948		Ephrins	3227	protein-coding gene	gene with protein product	HTK ligand, ligand of eph-related kinase 5, eph-related receptor tyrosine kinase ligand 5	600527		EPLG5	NA	7833926	Standard	NM_004093	NM_004093	NA	Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.434T>C	13.37:g.107148161A>G	ENSP00000245323:p.Leu145Pro	NA	Q5JV56	37	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756121	0.69648	.	.	ENSG00000125266	ENST00000245323	D	0.88124	-2.34	5.49	5.49	0.81192	Cupredoxin (2);	0.224048	0.38058	N	0.001831	D	0.93667	0.7977	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.94557	0.7759	10	0.87932	D	0	.	15.624	0.76833	1.0:0.0:0.0:0.0	.	145	P52799	EFNB2_HUMAN	P	145	ENSP00000245323:L145P	ENSP00000245323:L145P	L	-	2	0	EFNB2	105946162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.997000	0.93544	2.090000	0.63153	0.459000	0.35465	CTG	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045733.4		-	ENST00000245323.4	Missense_Mutation	SNP	13 : 107148161 - 107148161 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	891	6
FAM171B	165215	broad.mit.edu	37	2	187626909	187626909	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:187626909C>T	ENST00000304698.5	+	8	2043	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	614						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACAGAGCCTGCCATCCCAGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	79	78			NA	NA	2		NA											NA				187626909		2203	4300	6503	SO:0001583	missense			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369	165215	165215			29412	protein-coding gene	gene with protein product			KIAA1946	KIAA1946	NA	11853319	Standard	NM_177454	NM_177454	NA	Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1840C>T	2.37:g.187626909C>T	ENSP00000304108:p.Pro614Ser	NA	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	8.496	0.863233	0.17250	.	.	ENSG00000144369	ENST00000304698	T	0.27890	1.64	5.85	5.85	0.93711	.	0.072813	0.56097	D	0.000025	T	0.23410	0.0566	N	0.25647	0.755	0.32038	N	0.598562	B;B	0.18461	0.028;0.028	B;B	0.24848	0.056;0.056	T	0.15780	-1.0425	10	0.26408	T	0.33	-16.0957	12.8401	0.57797	0.0:0.884:0.0:0.116	.	614;615	Q6P995;A8K122	F171B_HUMAN;.	S	614	ENSP00000304108:P614S	ENSP00000304108:P614S	P	+	1	0	FAM171B	187335154	0.101000	0.21875	1.000000	0.80357	0.980000	0.70556	1.693000	0.37742	2.753000	0.94483	0.655000	0.94253	CCA	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334679.1		+	ENST00000304698.5	Missense_Mutation	SNP	2 : 187626909 - 187626909 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	355	37
GATA2	2624	broad.mit.edu	37	3	128200783	128200783	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:128200783G>A	ENST00000341105.2	-	5	1353	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	GATA2_ENST00000430265.2_Intron|GATA2_ENST00000487848.1_Missense_Mutation_p.A341V|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	341					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A341_G346del(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCTTCTGGCGGCCGACTGGGA	0.667		NA	Mis		AML(CML blast transformation)									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											76	62	67			NA	NA	3		NA											NA				128200783		2203	4300	6503	SO:0001583	missense			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348	2624	2624		GATA zinc finger domain containing	4171	protein-coding gene	gene with protein product		137295	GATA-binding protein 2		NA	1714909	Standard	NM_032638	NM_032638	NA	Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1022C>T	3.37:g.128200783G>A	ENSP00000345681:p.Ala341Val	NA	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	37	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871747	0.91587	.	.	ENSG00000179348	ENST00000341105;ENST00000487848	D;D	0.97710	-4.5;-4.5	4.95	4.95	0.65309	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.97142	0.9066	L	0.31926	0.97	0.80722	D	1	P	0.50528	0.936	P	0.56434	0.798	D	0.97318	0.9942	10	0.42905	T	0.14	-6.4427	18.1809	0.89777	0.0:0.0:1.0:0.0	.	341	P23769	GATA2_HUMAN	V	341	ENSP00000345681:A341V;ENSP00000417074:A341V	ENSP00000345681:A341V	A	-	2	0	GATA2	129683473	1.000000	0.71417	0.857000	0.33713	0.977000	0.68977	9.778000	0.99011	2.271000	0.75665	0.591000	0.81541	GCC	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356925.1		-	ENST00000341105.2	Missense_Mutation	SNP	3 : 128200783 - 128200783 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	161	4
GPR34	2857	broad.mit.edu	37	X	41555137	41555137	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:41555137G>A	ENST00000378142.4	+	3	535	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R84H(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											111	101	104			NA	NA	X		NA											NA				41555137		2203	4300	6503	SO:0001583	missense			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659	2857	2857		GPCR / Class A : Orphans	4490	protein-coding gene	gene with protein product		300241			NA	10395919, 10036181	Standard	NM_005300	NM_005300	NA	Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.251G>A	X.37:g.41555137G>A	ENSP00000367384:p.Arg84His	NA	O95853	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786249	0.49997	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.72942	-0.7;-0.7	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.199385	0.46758	D	0.000278	T	0.64238	0.2580	M	0.61703	1.905	0.31444	N	0.67163	P	0.50528	0.936	B	0.35688	0.208	T	0.76263	-0.3023	10	0.66056	D	0.02	-12.6129	12.7065	0.57063	0.0864:0.0:0.9136:0.0	.	84	Q9UPC5	GPR34_HUMAN	H	84;84;37	ENSP00000367384:R84H;ENSP00000367378:R84H	ENSP00000367378:R84H	R	+	2	0	GPR34	41440081	0.996000	0.38824	0.999000	0.59377	0.995000	0.86356	3.434000	0.52841	2.466000	0.83321	0.594000	0.82650	CGT	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056264.1		+	ENST00000378142.4	Missense_Mutation	SNP	X : 41555137 - 41555137 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	618	5
GPR98	84059	broad.mit.edu	37	5	89979973	89979973	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:89979973C>T	ENST00000405460.2	+	28	6331	c.6235C>T	c.(6235-6237)Ctc>Ttc	p.L2079F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2079					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCGAACTACTCAACTCTAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	55	56			NA	NA	5		NA											NA				89979973		1857	4098	5955	SO:0001583	missense			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199	84059	84059		-, GPCR / Class B : Orphans	17416	protein-coding gene	gene with protein product		602851	monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	USH2C, MASS1	NA	10976914, 14740321	Standard	NM_032119	NM_032119	NA	Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6235C>T	5.37:g.89979973C>T	ENSP00000384582:p.Leu2079Phe	NA	O75171|Q8TF58|Q9H0X5|Q9UL61	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	6.792	0.515177	0.12944	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28069	1.63	5.71	1.34	0.21922	Na-Ca exchanger/integrin-beta4 (1);	0.425070	0.27821	N	0.017719	T	0.13756	0.0333	N	0.16307	0.4	0.42111	D	0.991388	B	0.20368	0.044	B	0.24006	0.05	T	0.10382	-1.0632	10	0.13853	T	0.58	.	3.4706	0.07566	0.1498:0.5324:0.0958:0.2221	.	2079	Q8WXG9	GPR98_HUMAN	F	2079	ENSP00000384582:L2079F	ENSP00000296619:L2079F	L	+	1	0	GPR98	90015729	0.004000	0.15560	0.946000	0.38457	0.893000	0.52053	0.320000	0.19540	0.319000	0.23209	0.591000	0.81541	CTC	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369993.2		+	ENST00000405460.2	Missense_Mutation	SNP	5 : 89979973 - 89979973 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	174	23
HELB	92797	broad.mit.edu	37	12	66709127	66709128	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:66709127_66709128insA	ENST00000247815.4	+	6	2023_2024	c.1964_1965insA	c.(1963-1968)agagcafs	p.A656fs		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	656					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACAAACCATAGAGCAGAATCTC	0.342		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311	92797	92797			17196	protein-coding gene	gene with protein product		614539			NA	12181327	Standard		NM_033647	NA	Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1965dupA	12.37:g.66709128_66709128dupA	ENSP00000247815:p.Ala656fs	NA	A8K4C9|Q4G0T2|Q9H7L5	37	CCDS8976.1																																																																																			HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401919.1		+	ENST00000247815.4	Frame_Shift_Ins	INS	12 : 66709127 - 66709128 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	567	67
HIST1H2BO	8348	broad.mit.edu	37	6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					nucleosome assembly	nucleosome|nucleus	DNA binding				NA						CCCGACACCGGCATCTCATCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	145	151			NA	NA	6		NA											NA				27861401		2203	4300	6503	SO:0001583	missense			X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331		8348	8348		Histones / Replication-dependent	4758	protein-coding gene	gene with protein product		602808	H2B histone family, member N, histone 1, H2bo	H2BFN	NA	1768865, 12408966	Standard	NM_003527	NM_003527	NA	Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.161G>A	6.37:g.27861401G>A	ENSP00000303408:p.Gly54Asp	NA	Q3KPI7|Q8TCV6	37	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040161.1		+	ENST00000303806.4	Missense_Mutation	SNP	6 : 27861401 - 27861401 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	786	6
HTR2C	3358	broad.mit.edu	37	X	114141325	114141325	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:114141325C>T	ENST00000276198.1	+	6	1452	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	HTR2C_ENST00000371950.3_Missense_Mutation_p.A210V|HTR2C_ENST00000371951.1_Missense_Mutation_p.R242C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	242					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTACGTTCTGCGCCGACAAGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													339	293	309			NA	NA	X		NA											NA				114141325		2203	4300	6503	SO:0001583	missense				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246	3358	3358		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5295	protein-coding gene	gene with protein product		312861	5-hydroxytryptamine (serotonin) receptor 2C	HTR1C	NA	7895773	Standard	NM_000868	NM_000868	NA	Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.724C>T	X.37:g.114141325C>T	ENSP00000276198:p.Arg242Cys	NA	Q5VUF8|Q9NP28	37	CCDS14564.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.486151|2.486151	0.44147|0.44147	.|.	.|.	ENSG00000147246|ENSG00000147246	ENST00000371950|ENST00000276198;ENST00000371951	T|T;T	0.53423|0.42900	0.62|0.96;0.96	4.87|4.87	4.0|4.0	0.46444|0.46444	.|GPCR, rhodopsin-like superfamily (1);	.|0.440001	.|0.22924	.|N	.|0.053992	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.85710|0.85710	2.77|2.77	0.09310|0.09310	N|N	1|1	B|D	0.14012|0.89917	0.009|1.0	B|D	0.06405|0.70487	0.002|0.969	T|T	0.60193|0.60193	-0.7311|-0.7311	9|10	0.87932|0.87932	D|D	0|0	.|.	11.5251|11.5251	0.50576|0.50576	0.1806:0.8194:0.0:0.0|0.1806:0.8194:0.0:0.0	.|.	210|242	B1AMW4|P28335	.|5HT2C_HUMAN	V|C	210|242	ENSP00000361018:A210V|ENSP00000276198:R242C;ENSP00000361019:R242C	ENSP00000361018:A210V|ENSP00000276198:R242C	A|R	+|+	2|1	0|0	HTR2C|HTR2C	114047581|114047581	1.000000|1.000000	0.71417|0.71417	0.160000|0.160000	0.22671|0.22671	0.916000|0.916000	0.54674|0.54674	7.715000|7.715000	0.84713|0.84713	0.933000|0.933000	0.37291|0.37291	0.544000|0.544000	0.68410|0.68410	GCG|CGC	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057962.1		+	ENST00000276198.1	Missense_Mutation	SNP	X : 114141325 - 114141325 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1655	9
IMMP2L	83943	broad.mit.edu	37	7	110763403	110763403	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:110763403T>C	ENST00000450877.1	-	3	296				IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.I192T|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.I192T|LRRN3_ENST00000422987.3_Missense_Mutation_p.I192T			Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	NA					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		AATCTAGAGATTCTGATGATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	68	67			NA	NA	7		NA											NA				110763403		2203	4299	6502	SO:0001627	intron_variant			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903	83943	83943			14598	protein-coding gene	gene with protein product		605977	IMP2 inner mitochondrial membrane protease-like (S. cerevisiae), IMMP2L intronic transcript 1 (non-protein coding)	IMMP2L-IT1	NA	11254443	Standard	NM_032549	NM_032549	NA	Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000450877.1:c.186-159782A>G	7.37:g.110763403T>C		NA	Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	37		.	.	.	.	.	.	.	.	.	.	T	17.33	3.362159	0.61403	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.23348	1.91;1.91;1.91;4.37	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000013	T	0.35653	0.0939	L	0.55017	1.72	0.58432	D	0.999999	D	0.56968	0.978	P	0.51974	0.686	T	0.05666	-1.0871	10	0.15499	T	0.54	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	192	Q9H3W5	LRRN3_HUMAN	T	192	ENSP00000312001:I192T;ENSP00000397312:I192T;ENSP00000412417:I192T;ENSP00000407927:I192T	ENSP00000312001:I192T	I	+	2	0	LRRN3	110550639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	ATT	IMMP2L-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000338259.1		-	ENST00000450877.1	Intron	SNP	7 : 110763403 - 110763403 C PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	322	62
IPO7	10527	broad.mit.edu	37	11	9459724	9459724	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:9459724C>T	ENST00000379719.3	+	22	2729	c.2587C>T	c.(2587-2589)Ccg>Tcg	p.P863S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	863					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.P863S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAGATTTTGCCGGCTTTTAT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											145	163	157			NA	NA	11		NA											NA				9459724		2201	4294	6495	SO:0001583	missense			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339	10527	10527		Importins	9852	protein-coding gene	gene with protein product		605586	RAN binding protein 7	RANBP7	NA	9214382	Standard	NM_006391	NM_006391	NA	Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2587C>T	11.37:g.9459724C>T	ENSP00000369042:p.Pro863Ser	NA	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081390	0.55753	.	.	ENSG00000205339	ENST00000379719	T	0.66638	-0.22	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81955	0.4932	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78150	-0.2316	10	0.16420	T	0.52	.	19.0792	0.93175	0.0:1.0:0.0:0.0	.	863	O95373	IPO7_HUMAN	S	863	ENSP00000369042:P863S	ENSP00000369042:P863S	P	+	1	0	IPO7	9416300	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.164000	0.77533	2.507000	0.84556	0.585000	0.79938	CCG	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386022.1		+	ENST00000379719.3	Missense_Mutation	SNP	11 : 9459724 - 9459724 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	952	7
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765	389434	389434			21071	protein-coding gene	gene with protein product		612025	chromosome 6 open reading frame 71	C6orf71	NA	16316988, 15289438	Standard	NM_203395	NM_001164694	NA	Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr	NA	Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043754.3		+	ENST00000344419.3	Missense_Mutation	SNP	6 : 150715311 - 150715311 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	567	8
KBTBD6	89890	broad.mit.edu	37	13	41705888	41705888	+	Missense_Mutation	SNP	G	G	A	rs61999308		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:41705888G>A	ENST00000379485.1	-	1	994	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R188W	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	254							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGGGACCCCGCTCTTTGGGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	63	62			NA	NA	13		NA											NA				41705888		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.760C>T	13.37:g.41705888G>A	ENSP00000368799:p.Arg254Trp	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	15.36	2.811259	0.50527	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.74209	-0.82;-0.82	3.69	3.69	0.42338	BTB/Kelch-associated (2);	0.227860	0.29980	N	0.010714	D	0.84479	0.5481	M	0.84326	2.69	0.38841	D	0.956059	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	D	0.86451	0.1773	10	0.87932	D	0	.	8.6734	0.34165	0.0:0.0:0.7723:0.2277	.	188;254	F5GZN7;Q86V97	.;KBTB6_HUMAN	W	254;188	ENSP00000368799:R254W;ENSP00000444326:R188W	ENSP00000368799:R254W	R	-	1	2	KBTBD6	40603888	0.465000	0.25815	0.999000	0.59377	0.991000	0.79684	0.528000	0.23002	2.065000	0.61736	0.462000	0.41574	CGG	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705888 - 41705888 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	457	115
KCNA6	3742	broad.mit.edu	37	12	4920759	4920759	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:4920759C>T	ENST00000280684.3	+	1	2418	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	KCNA6_ENST00000433855.1_Missense_Mutation_p.R518W			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	518						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TACACCACATCGGGCCTATGC	0.597		NA								HNSCC(72;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	64	63			NA	NA	12		NA											NA				4920759		2203	4300	6503	SO:0001583	missense			X17622	CCDS8534.1	12p13	2014-06-12					3742	3742		Potassium channels, Voltage-gated ion channels / Potassium channels	6225	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 96	176257			NA	16382104	Standard	NM_002235	NM_002235	NA	Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1552C>T	12.37:g.4920759C>T	ENSP00000280684:p.Arg518Trp	NA		37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935726	0.34189	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97553	-4.43;-4.43	4.97	4.01	0.46588	.	0.394655	0.23474	N	0.047785	D	0.95027	0.8390	N	0.19112	0.55	0.31860	N	0.62104	D	0.76494	0.999	P	0.53809	0.735	D	0.93607	0.6935	10	0.31617	T	0.26	.	14.9663	0.71196	0.1522:0.8478:0.0:0.0	.	518	P17658	KCNA6_HUMAN	W	518	ENSP00000408321:R518W;ENSP00000280684:R518W	ENSP00000280684:R518W	R	+	1	2	KCNA6	4791020	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	5.194000	0.65125	2.578000	0.87016	0.655000	0.94253	CGG	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398909.1		+	ENST00000280684.3	Missense_Mutation	SNP	12 : 4920759 - 4920759 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	337	12
KRT74	121391	broad.mit.edu	37	12	52964517	52964517	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:52964517C>T	ENST00000549343.1	-	5	982	c.944G>A	c.(943-945)cGc>cAc	p.R315H	KRT74_ENST00000305620.2_Missense_Mutation_p.R315H			Q7RTS7	K2C74_HUMAN	keratin 74	315	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATAATGCATGCGGACCTCAGC	0.592		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	3e-04	SNP								NA				0													123	96	105			NA	NA	12		NA											NA				52964517		2203	4300	6503	SO:0001583	missense			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484	121391	121391		-, Intermediate filaments type II, keratins (basic)	28929	protein-coding gene	gene with protein product		608248			NA	12648212, 16831889	Standard	NM_175053	NM_175053	NA	Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000549343.1:c.944G>A	12.37:g.52964517C>T	ENSP00000447447:p.Arg315His	NA	B5MD61|Q86Y45	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.276	1.046988	0.19748	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.93307	-3.2;-3.2	4.49	3.56	0.40772	Filament (1);	0.000000	0.34291	N	0.004087	D	0.93973	0.8070	H	0.95187	3.635	0.09310	N	1	P	0.36633	0.562	B	0.36186	0.219	D	0.90228	0.4277	10	0.87932	D	0	.	6.036	0.19708	0.0:0.6265:0.0:0.3735	.	315	Q7RTS7	K2C74_HUMAN	H	315	ENSP00000447447:R315H;ENSP00000307240:R315H	ENSP00000307240:R315H	R	-	2	0	KRT74	51250784	0.000000	0.05858	0.644000	0.29465	0.067000	0.16453	-0.672000	0.05244	1.137000	0.42214	0.655000	0.94253	CGC	KRT74-003	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000405323.1		-	ENST00000549343.1	Missense_Mutation	SNP	12 : 52964517 - 52964517 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	217	5
LZTS2	84445	broad.mit.edu	37	10	102763860	102763860	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:102763860C>T	ENST00000370220.1	+	2	4068	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	LZTS2_ENST00000370223.3_Silent_p.D335D			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	335					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTCCGAGACCGGGAGGCAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(8;38 437 13604 19902 37640)							NA				0													43	47	45			NA	NA	10		NA											NA				102763860		2201	4297	6498	SO:0001819	synonymous_variant			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816	84445	84445			29381	protein-coding gene	gene with protein product		610454			NA	11347906, 11709705	Standard	XM_046743	NM_032429	NA	Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1005C>T	10.37:g.102763860C>T		NA	B1AL14|D3DR72|Q8N3I0|Q96J79|Q96JL2	37	CCDS7507.1																																																																																			LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049872.1		+	ENST00000370220.1	Silent	SNP	10 : 102763860 - 102763860 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	244	9
MAEL	84944	broad.mit.edu	37	1	166987189	166987189	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:166987189G>A	ENST00000367872.4	+	10	1278	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	MAEL_ENST00000367870.2_Missense_Mutation_p.R314H|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	345					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GATGCAGGGCGTTACCAGGTA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	122	130			NA	NA	1		NA											NA				166987189		2203	4300	6503	SO:0001583	missense			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194	84944	84944			25929	protein-coding gene	gene with protein product	cancer/testis antigen 128, spermatogenesis associated 35	611368	maelstrom homolog (Drosophila)		NA	19693694, 18694567	Standard	NM_032858	NM_001286378	NA	Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1034G>A	1.37:g.166987189G>A	ENSP00000356846:p.Arg345His	NA	B4DY43|Q49AP9|Q5VZP8|Q9UIW6	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356516	0.61293	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.60040	0.22;0.27;0.6	5.69	4.76	0.60689	.	0.000000	0.64402	D	0.000015	T	0.32071	0.0817	L	0.29908	0.895	0.44816	D	0.997822	D;P	0.57257	0.979;0.954	B;B	0.42995	0.328;0.404	T	0.20571	-1.0271	10	0.46703	T	0.11	.	11.9142	0.52755	0.0:0.0:0.8258:0.1742	.	314;345	E9JVC3;Q96JY0	.;MAEL_HUMAN	H	345;314;314;67	ENSP00000356846:R345H;ENSP00000356844:R314H;ENSP00000402143:R314H	ENSP00000356844:R314H	R	+	2	0	MAEL	165253813	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.141000	0.64814	1.381000	0.46364	0.555000	0.69702	CGT	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083239.1		+	ENST00000367872.4	Missense_Mutation	SNP	1 : 166987189 - 166987189 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	712	14
MFSD2A	84879	broad.mit.edu	37	1	40434030	40434030	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:40434030C>T	ENST00000372809.5	+	12	1415	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	MFSD2A_ENST00000420632.2_Silent_p.D255D|MFSD2A_ENST00000372811.5_Silent_p.D411D|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	424					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATGTCATTGACGACTTCCATC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	131	143			NA	NA	1		NA											NA				40434030		2203	4300	6503	SO:0001819	synonymous_variant			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389	84879	84879			25897	protein-coding gene	gene with protein product		614397	major facilitator superfamily domain containing 2	MFSD2	NA	18694395	Standard	NM_032793	XM_005271285	NA	Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1272C>T	1.37:g.40434030C>T		NA	A8K675|Q6UWU5|Q96F59|Q9BRC8	37	CCDS44118.1																																																																																			MFSD2A-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025756.1		+	ENST00000372809.5	Silent	SNP	1 : 40434030 - 40434030 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	226	4
MST1R	4486	broad.mit.edu	37	3	49932677	49932677	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:49932677G>A	ENST00000296474.3	-	14	3221	c.3194C>T	c.(3193-3195)gCg>gTg	p.A1065V	MST1R_ENST00000344206.4_Missense_Mutation_p.A1016V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1065					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGCCAAGAGCGCAGAGTCCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	189	189			NA	NA	3		NA											NA				49932677		2203	4300	6503	SO:0001583	missense			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078	4486	4486		CD molecules	7381	protein-coding gene	gene with protein product		600168	PTK8 protein tyrosine kinase 8	RON, PTK8	NA	8386824	Standard		NM_002447	NA	Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3194C>T	3.37:g.49932677G>A	ENSP00000296474:p.Ala1065Val	NA	B5A944|B5A945|B5A946|B5A947	37	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.12|16.12	3.033645|3.033645	0.54896|0.54896	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000440292	T;T|.	0.11385|.	2.78;2.78|.	5.84|5.84	0.269|0.269	0.15631|0.15631	Protein kinase-like domain (1);|.	0.629120|.	0.18429|.	N|.	0.141487|.	T|T	0.22085|0.22085	0.0532|0.0532	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.01281|.	0.0|.	T|T	0.26573|0.26573	-1.0099|-1.0099	10|5	0.59425|.	D|.	0.04|.	-0.2885|-0.2885	5.453|5.453	0.16574|0.16574	0.2685:0.0:0.4316:0.2999|0.2685:0.0:0.4316:0.2999	.|.	1065|.	Q04912|.	RON_HUMAN|.	V|C	1065;1016|86	ENSP00000296474:A1065V;ENSP00000341325:A1016V|.	ENSP00000296474:A1065V|.	A|R	-|-	2|1	0|0	MST1R|MST1R	49907681|49907681	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.449000|0.449000	0.32228|0.32228	1.130000|1.130000	0.31393|0.31393	-0.151000|-0.151000	0.11176|0.11176	0.561000|0.561000	0.74099|0.74099	GCG|CGC	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345403.1		-	ENST00000296474.3	Missense_Mutation	SNP	3 : 49932677 - 49932677 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	798	6
MTMR6	9107	broad.mit.edu	37	13	25826043	25826043	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:25826043C>T	ENST00000381801.5	-	12	2187	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E476K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	476	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTGTGAGATTCGGAACTGTAG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	0,4406		0,0,2203	116	132	126		1426	-5	0	13		126	1,8597	2.2+/-6.3	0,1,4298	no	missense	MTMR6	NM_004685.3	56	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	476/622	25826043	1,13003	2203	4299	6502	SO:0001583	missense			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505	9107	9107		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	7453	protein-coding gene	gene with protein product		603561			NA	9736772	Standard	NM_004685	NM_004685	NA	Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1426G>A	13.37:g.25826043C>T	ENSP00000371221:p.Glu476Lys	NA	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	3.298	-0.143515	0.06627	0.0	1.16E-4	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801;ENST00000319298	D;D	0.90133	-2.62;-2.62	5.63	-5.02	0.02982	Myotubularin phosphatase domain (1);	0.741247	0.14353	N	0.324976	T	0.78130	0.4235	L	0.31926	0.97	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.65717	-0.6100	10	0.07030	T	0.85	.	7.079	0.25221	0.0:0.2984:0.3046:0.397	.	476;476	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	K	476;476;476;44	ENSP00000443161:E476K;ENSP00000371221:E476K	ENSP00000317987:E44K	E	-	1	0	MTMR6	24724043	0.000000	0.05858	0.002000	0.10522	0.740000	0.42216	-0.079000	0.11357	-0.861000	0.04094	-0.385000	0.06624	GAA	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044225.1		-	ENST00000381801.5	Missense_Mutation	SNP	13 : 25826043 - 25826043 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1038	16
MUSK	4593	broad.mit.edu	37	9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:113547892C>T	ENST00000416899.2	+	11	1774	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	MUSK_ENST00000374448.4_Missense_Mutation_p.P558S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	207	209			NA	NA	9		NA											NA				113547892		1966	4156	6122	SO:0001583	missense			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304	4593	4593		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7525	protein-coding gene	gene with protein product		601296			NA	7546737	Standard		NM_005592	NA	Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000416899.2:c.1648C>T	9.37:g.113547892C>T	ENSP00000393608:p.Pro550Ser	NA	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.084498	0.76642	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88664	-0.83;-2.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90595	0.4540	10	0.33940	T	0.23	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	558	O15146	MUSK_HUMAN	S	564;558;558;472;472;74;556;74	ENSP00000363571:P558S;ENSP00000363561:P74S	ENSP00000189978:P564S	P	+	1	0	MUSK	112587713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	CCG	MUSK-002	NOVEL	non_canonical_TEC|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000053628.2		+	ENST00000416899.2	Missense_Mutation	SNP	9 : 113547892 - 113547892 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	852	6
MYO1B	4430	broad.mit.edu	37	2	192261178	192261178	+	Silent	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:192261178A>G	ENST00000392318.3	+	21	2497	c.2250A>G	c.(2248-2250)acA>acG	p.T750T	MYO1B_ENST00000392316.1_Silent_p.T750T|MYO1B_ENST00000339514.4_Silent_p.T750T|MYO1B_ENST00000439065.2_Silent_p.T24T|MYO1B_ENST00000304164.4_Silent_p.T750T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	750	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCAGCAGACAAAGAGTTCCG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	148	149			NA	NA	2		NA											NA				192261178		2203	4300	6503	SO:0001819	synonymous_variant			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641	4430	4430		Myosins / Myosin superfamily : Class I	7596	protein-coding gene	gene with protein product		606537			NA	8022818, 8449985	Standard	NM_012223	NM_012223	NA	Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2250A>G	2.37:g.192261178A>G		NA	O43794|Q7Z6L5	37	CCDS46477.1																																																																																			MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334774.1		+	ENST00000392318.3	Silent	SNP	2 : 192261178 - 192261178 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	645	20
NAV1	89796	broad.mit.edu	37	1	201777998	201777998	+	Splice_Site	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:201777998A>G	ENST00000367302.1	+	20	4299	c.4065A>G	c.(4063-4065)acA>acG	p.T1355T	NAV1_ENST00000367297.4_Splice_Site_p.T1394T|NAV1_ENST00000367296.4_Splice_Site_p.T1402T|NAV1_ENST00000367295.1_Splice_Site_p.T1008T|NAV1_ENST00000295624.6_Splice_Site_p.T1399T|NAV1_ENST00000367300.3_Splice_Site_p.T1342T|IPO9-AS1_ENST00000413035.1_RNA			Q8NEY1	NAV1_HUMAN	neuron navigator 1	1402					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTGCAGACACAGGTACCTGTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	54	54			NA	NA	1		NA											NA				201777998		2174	4266	6440	SO:0001630	splice_region_variant			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369	89796	89796			15989	protein-coding gene	gene with protein product	neuron navigator-1, pore membrane and/or filament interacting like protein 3	611628			NA	12079279, 12062803	Standard	NM_020443	NM_020443	NA	Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367302.1:c.4066+1A>G	1.37:g.201777998A>G		NA	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	37																																																																																				NAV1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000087018.1	Silent	+	ENST00000367302.1	Splice_Site	SNP	1 : 201777998 - 201777998 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	524	6
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C					neuroblastoma breakpoint family, member 20	NA								p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											49	57	54			NA	NA	1		NA											NA				148346684		2125	4271	6396	SO:0001583	missense				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832		100288142	100288142		neuroblastoma breakpoint family	32000	protein-coding gene	gene with protein product		614007			NA	16079250	Standard		NM_001278267	NA	Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.73C>T	1.37:g.148346684G>A	ENSP00000358203:p.Arg25Cys	NA		37		.	.	.	.	.	.	.	.	.	.	.	5.006	0.186830	0.09547	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04917	3.85;3.91;3.53	0.521	0.521	0.17046	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.23751	N	0.996944	D;B	0.56521	0.976;0.024	P;B	0.52066	0.689;0.012	T	0.34925	-0.9809	6	0.48119	T	0.1	.	.	.	.	.	25;25	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	C	25	ENSP00000358203:R25C;ENSP00000358189:R25C;ENSP00000389520:R25C	ENSP00000358189:R25C	R	-	1	0	NBPF20	146713308	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	1.201000	0.32259	0.529000	0.28599	0.184000	0.17185	CGC	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000100689.2		-	ENST00000369202.1	Missense_Mutation	SNP	1 : 148346684 - 148346684 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1729	10
NCEH1	57552	broad.mit.edu	37	3	172353825	172353825	+	Missense_Mutation	SNP	G	G	A	rs149894663		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:172353825G>A	ENST00000475381.1	-	4	723	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	NCEH1_ENST00000273512.3_Missense_Mutation_p.R196W|NCEH1_ENST00000538775.1_Missense_Mutation_p.R204W|NCEH1_ENST00000543711.1_Missense_Mutation_p.R31W			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	164					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TTTGTGGCCCGTACAACATCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	126	124	124		610,91,91,586	5.4	0.2	3	dbSNP_134	124	0,8600		0,0,4300	no	missense,missense,missense,missense	NCEH1	NM_001146276.1,NM_001146277.1,NM_001146278.1,NM_020792.4	101,101,101,101	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	204/449,31/276,31/276,196/441	172353825	2,13004	2203	4300	6503	SO:0001583	missense			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959	57552	57552			29260	protein-coding gene	gene with protein product		613234	arylacetamide deacetylase-like 1	AADACL1	NA	10718198	Standard	NM_020792	NM_001146276	NA	Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.490C>T	3.37:g.172353825G>A	ENSP00000418571:p.Arg164Trp	NA	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|Q86WZ1|Q9P2I4	37		.	.	.	.	.	.	.	.	.	.	G	14.95	2.687850	0.48097	4.54E-4	0.0	ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.42	5.42	0.78866	Alpha/beta hydrolase fold-3 (1);	0.346259	0.31897	N	0.006894	T	0.24353	0.0590	M	0.69823	2.125	0.09310	N	1	D;D	0.65815	0.995;0.964	P;B	0.50708	0.648;0.417	T	0.18053	-1.0349	10	0.56958	D	0.05	-10.1766	10.8595	0.46819	0.0:0.1401:0.7147:0.1452	.	204;164	F5H7K4;Q6PIU2	.;NCEH1_HUMAN	W	164;204;196;31	ENSP00000418571:R164W;ENSP00000442464:R204W;ENSP00000273512:R196W;ENSP00000443227:R31W	ENSP00000273512:R196W	R	-	1	2	NCEH1	173836519	0.005000	0.15991	0.190000	0.23270	0.793000	0.44817	1.546000	0.36179	2.820000	0.97059	0.650000	0.86243	CGG	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000346367.3		-	ENST00000475381.1	Missense_Mutation	SNP	3 : 172353825 - 172353825 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	516	5
NLRC5	84166	broad.mit.edu	37	16	57075463	57075463	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:57075463C>G	ENST00000262510.6	+	18	3231	c.3006C>G	c.(3004-3006)tgC>tgG	p.C1002W	NLRC5_ENST00000539144.1_Missense_Mutation_p.C1002W|NLRC5_ENST00000436936.1_Missense_Mutation_p.C1002W|NLRC5_ENST00000308149.7_Missense_Mutation_p.C1002W	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1002					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGGAAGCTGCCACCTCGGTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	76			NA	NA	16		NA											NA				57075463		2198	4300	6498	SO:0001583	missense			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853	84166	84166		Nucleotide-binding domain and leucine rich repeat containing	29933	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5	613537			NA	12615073	Standard	NM_032206	NM_032206	NA	Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3006C>G	16.37:g.57075463C>G	ENSP00000262510:p.Cys1002Trp	NA	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	37	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.80|11.80	1.746925|1.746925	0.30955|0.30955	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.54479|.	0.57;0.57;0.57;0.57;0.57;0.57|.	3.98|3.98	-2.66|-2.66	0.06077|0.06077	.|.	1.053610|.	0.07584|.	N|.	0.920873|.	T|T	0.38081|0.38081	0.1027|0.1027	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.57571|.	0.966;0.972;0.98;0.978|.	P;P;P;P|.	0.56474|.	0.62;0.697;0.706;0.799|.	T|T	0.40403|0.40403	-0.9565|-0.9565	10|5	0.49607|.	T|.	0.09|.	.|.	4.9157|4.9157	0.13844|0.13844	0.0:0.3487:0.1617:0.4897|0.0:0.3487:0.1617:0.4897	.|.	1002;1002;1002;1002|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	W|A	1002;1002;1002;476;1002;509;301|755	ENSP00000262510:C1002W;ENSP00000308886:C1002W;ENSP00000389739:C1002W;ENSP00000441727:C1002W;ENSP00000441597:C509W;ENSP00000440153:C301W|.	ENSP00000262510:C1002W|.	C|P	+|+	3|1	2|0	NLRC5|NLRC5	55632964|55632964	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.263000|0.263000	0.26337|0.26337	-0.740000|-0.740000	0.04861|0.04861	-0.493000|-0.493000	0.06678|0.06678	-0.136000|-0.136000	0.14681|0.14681	TGC|CCA	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257346.1		+	ENST00000262510.6	Missense_Mutation	SNP	16 : 57075463 - 57075463 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	240	32
OBSCN	84033	broad.mit.edu	37	1	228495118	228495118	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:228495118C>T	ENST00000570156.2	+	57	15297	c.15223C>T	c.(15223-15225)Cgg>Tgg	p.R5075W	OBSCN_ENST00000366707.4_Missense_Mutation_p.R1752W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1237W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4118W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4118W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4118					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACGAGATGCGGAGCCAGGG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	39	35			NA	NA	1		NA											NA				228495118		2118	4211	6329	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.15223C>T	1.37:g.228495118C>T	ENSP00000455507:p.Arg5075Trp	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897492	0.52121	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.79	1.41	0.22369	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.288780	0.05292	N	0.521231	T	0.76572	0.4006	L	0.53729	1.69	0.24836	N	0.992496	D;B	0.89917	1.0;0.37	D;B	0.78314	0.991;0.059	T	0.57505	-0.7800	10	0.54805	T	0.06	.	6.5659	0.22511	0.5717:0.2742:0.0:0.154	.	4118;4118	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4118;4118;1752;1237	ENSP00000284548:R4118W;ENSP00000409493:R4118W;ENSP00000355668:R1752W;ENSP00000355670:R1237W	ENSP00000284548:R4118W	R	+	1	2	OBSCN	226561741	0.809000	0.29036	0.030000	0.17652	0.186000	0.23388	0.384000	0.20668	0.364000	0.24374	-0.515000	0.04445	CGG	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228495118 - 228495118 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	172	4
OGFR	11054	broad.mit.edu	37	20	61444217	61444217	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:61444217G>A	ENST00000370461.1	+	5	3371	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	OGFR_ENST00000290291.6_Missense_Mutation_p.C417Y			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	417					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TTGGAGGGGTGTGCCCTCAGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	46	44			NA	NA	20		NA											NA				61444217		2199	4300	6499	SO:0001583	missense			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491	11054	11054			15768	protein-coding gene	gene with protein product		606459			NA	10677613	Standard		NM_007346	NA	Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000370461.1:c.1094G>A	20.37:g.61444217G>A	ENSP00000359491:p.Cys365Tyr	NA	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	37		.	.	.	.	.	.	.	.	.	.	G	14.58	2.577779	0.45902	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.64085	0.56;0.05;-0.08	4.98	3.99	0.46301	.	0.131453	0.51477	D	0.000099	T	0.71685	0.3369	M	0.66939	2.045	0.09310	N	0.999996	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.57371	0.819;0.819;0.819	T	0.65434	-0.6169	10	0.72032	D	0.01	-13.4023	13.2842	0.60232	0.0:0.0:0.7181:0.2819	.	417;400;417	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	Y	417;417;417;272;365	ENSP00000290291:C417Y;ENSP00000359499:C417Y;ENSP00000359491:C365Y	ENSP00000290291:C417Y	C	+	2	0	OGFR	60914662	0.964000	0.33143	0.980000	0.43619	0.665000	0.39181	1.485000	0.35519	2.278000	0.76064	0.555000	0.69702	TGT	OGFR-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000080068.1		+	ENST00000370461.1	Missense_Mutation	SNP	20 : 61444217 - 61444217 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	229	11
OR2A7	401427	broad.mit.edu	37	7	143956698	143956698	+	Silent	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:143956698G>T	ENST00000493325.1	-	1	117	c.24C>A	c.(22-24)atC>atA	p.I8I	OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000476560.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGAACTCTGTGATGGATGTTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	150	139			NA	NA	7		NA											NA				143956698		2202	4300	6502	SO:0001819	synonymous_variant				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896	401427	401427		GPCR / Class A : Olfactory receptors	8234	protein-coding gene	gene with protein product					NA		Standard		NM_001005328	NA	Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.24C>A	7.37:g.143956698G>T		NA	B2RN57|Q6IFP4	37	CCDS55177.1																																																																																			OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349979.1		-	ENST00000493325.1	Silent	SNP	7 : 143956698 - 143956698 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	562	63
OR8K1	390157	broad.mit.edu	37	11	56113884	56113884	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:56113884A>G	ENST00000279783.2	+	1	464	c.370A>G	c.(370-372)Atg>Gtg	p.M124V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCTATCAGCAATGGCCTATGA	0.403		NA								HNSCC(65;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	199	199			NA	NA	11		NA											NA				56113884		2201	4296	6497	SO:0001583	missense			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261	390157	390157		GPCR / Class A : Olfactory receptors	14831	protein-coding gene	gene with protein product					NA		Standard	NM_001002907	NM_001002907	NA	Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.370A>G	11.37:g.56113884A>G	ENSP00000279783:p.Met124Val	NA	B9EJB1|Q6IFC3|Q96RC1	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528822	0.64860	.	.	ENSG00000150261	ENST00000279783	T	0.00995	5.46	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.04227	0.0117	H	0.94964	3.605	0.45216	D	0.99822	P	0.51537	0.946	P	0.44647	0.456	T	0.08700	-1.0709	10	0.87932	D	0	-28.0834	14.7062	0.69191	1.0:0.0:0.0:0.0	.	124	Q8NGG5	OR8K1_HUMAN	V	124	ENSP00000279783:M124V	ENSP00000279783:M124V	M	+	1	0	OR8K1	55870460	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.771000	0.91751	1.862000	0.54008	0.448000	0.29417	ATG	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391605.1		+	ENST00000279783.2	Missense_Mutation	SNP	11 : 56113884 - 56113884 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1215	271
PCDH19	57526	broad.mit.edu	37	X	99662436	99662436	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:99662436C>T	ENST00000373034.4	-	1	2835	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	PCDH19_ENST00000255531.7_Missense_Mutation_p.R387H|PCDH19_ENST00000420881.2_Missense_Mutation_p.R387H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCCAGCAAACGGCACTGCAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	76	76			NA	NA	X		NA											NA				99662436		2180	4256	6436	SO:0001583	missense			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194	57526	57526		Cadherins / Protocadherins : Non-clustered	14270	protein-coding gene	gene with protein product		300460	epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)	EFMR	NA	11549318, 18469813, 19752159	Standard	NM_020766	NM_020766	NA	Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1160G>A	X.37:g.99662436C>T	ENSP00000362125:p.Arg387His	NA	B0LDS4|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215554	0.58452	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53640	0.61;0.61;0.61	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.045907	0.85682	D	0.000000	T	0.53546	0.1803	L	0.39514	1.22	0.49389	D	0.99978	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.937;0.955;0.973	T	0.52983	-0.8502	10	0.32370	T	0.25	.	6.888	0.24214	0.0:0.7732:0.0:0.2268	.	387;387;387	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	387	ENSP00000400327:R387H;ENSP00000362125:R387H;ENSP00000255531:R387H	ENSP00000255531:R387H	R	-	2	0	PCDH19	99549092	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.536000	0.53582	2.498000	0.84270	0.513000	0.50165	CGT	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057479.2		-	ENST00000373034.4	Missense_Mutation	SNP	X : 99662436 - 99662436 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	348	41
PEX14	5195	broad.mit.edu	37	1	10689967	10689967	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:10689967G>A	ENST00000356607.4	+	9	1137	c.1057G>A	c.(1057-1059)Ggg>Agg	p.G353R	PEX14_ENST00000538836.1_Missense_Mutation_p.G289R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	353					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCCGGGGCGGGGATGGGCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	157	153			NA	NA	1		NA											NA				10689967		2202	4300	6502	SO:0001583	missense			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655	5195	5195			8856	protein-coding gene	gene with protein product		601791			NA	9653144	Standard		NM_004565	NA	Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1057G>A	1.37:g.10689967G>A	ENSP00000349016:p.Gly353Arg	NA	B2R7N1|B3KML6|B7Z1N2|Q8WX51	37	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263963	0.95399	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.56611	0.7;0.45	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.97110	1.0;0.877	T	0.68288	-0.5448	10	0.87932	D	0	.	17.665	0.88200	0.0:0.0:1.0:0.0	.	310;353	O75381-2;O75381	.;PEX14_HUMAN	R	353;289	ENSP00000349016:G353R;ENSP00000444877:G289R	ENSP00000349016:G353R	G	+	1	0	PEX14	10612554	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	9.328000	0.96403	2.249000	0.74217	0.462000	0.41574	GGG	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005414.1		+	ENST00000356607.4	Missense_Mutation	SNP	1 : 10689967 - 10689967 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	122	4
PGK1	5230	broad.mit.edu	37	X	77380480	77380480	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:77380480C>T	ENST00000373316.4	+	9	1213	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	PGK1_ENST00000442431.1_Missense_Mutation_p.A213V|PGK1_ENST00000537456.1_Missense_Mutation_p.A321V|PGK1_ENST00000476531.1_3'UTR	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	349					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GAAGCTTTTGCCCGGGGAACC	0.502		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	X		NA											NA				77380480		2203	4296	6499	SO:0001583	missense			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	5230	5230	2.7.2.3		8896	protein-coding gene	gene with protein product		311800			NA	6188151, 6099325	Standard		NM_000291	NA	Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.1046C>T	X.37:g.77380480C>T	ENSP00000362413:p.Ala349Val	NA	Q5J7W1|Q6IBT6|Q8NI87	37	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301012	0.81136	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.92805	-3.11;-3.11;-3.11	5.24	4.37	0.52481	Phosphoglycerate kinase, C-terminal (1);	0.158098	0.56097	D	0.000036	D	0.96491	0.8855	H	0.99058	4.415	0.44771	D	0.997778	D	0.53151	0.958	P	0.49361	0.608	D	0.97124	0.9813	10	0.87932	D	0	-6.5456	14.2428	0.65969	0.0:0.854:0.146:0.0	.	349	P00558	PGK1_HUMAN	V	349;213;174;321	ENSP00000362413:A349V;ENSP00000405452:A213V;ENSP00000444708:A321V	ENSP00000362413:A349V	A	+	2	0	PGK1	77267136	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	5.592000	0.67543	1.086000	0.41228	0.513000	0.50165	GCC	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057310.1		+	ENST00000373316.4	Missense_Mutation	SNP	X : 77380480 - 77380480 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	395	5
PIK3C2B	5287	broad.mit.edu	37	1	204412697	204412697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:204412697G>A	ENST00000367187.3	-	20	3452	c.2896C>T	c.(2896-2898)Cag>Tag	p.Q966*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q938*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	966					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGCTGAACTGAGAGTCCTTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	114	115			NA	NA	1		NA											NA				204412697		2203	4300	6503	SO:0001587	stop_gained			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	5287	5287	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	phosphoinositide-3-kinase, class 2, beta polypeptide		NA	9144573, 9830063	Standard	NM_002646	NM_002646	NA	Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2896C>T	1.37:g.204412697G>A	ENSP00000356155:p.Gln966*	NA	O95666|Q5SW99	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	46	12.910723	0.99705	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	13.2926	0.60278	0.0728:0.0:0.9272:0.0	.	.	.	.	X	966;938	.	ENSP00000356155:Q966X	Q	-	1	0	PIK3C2B	202679320	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	4.809000	0.62591	2.847000	0.97988	0.591000	0.81541	CAG	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087965.1		-	ENST00000367187.3	Nonsense_Mutation	SNP	1 : 204412697 - 204412697 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	1528	59
PLXNA2	5362	broad.mit.edu	37	1	208218554	208218554	+	Splice_Site	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:208218554C>T	ENST00000367033.3	-	19	4254	c.3497G>A	c.(3496-3498)gGc>gAc	p.G1166D		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1166	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGGTTTTTGCCCTGTAGAGA	0.498		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	1		NA											NA				208218554		2203	4300	6503	SO:0001630	splice_region_variant			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356	5362	5362		Plexins	9100	protein-coding gene	gene with protein product	plexin 2, plexin-A2, semaphorin receptor OCT, transmembrane protein OCT	601054		PLXN2	NA	8570614	Standard	NM_025179	NM_025179	NA	Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3496-1G>A	1.37:g.208218554C>T		NA	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002818	0.93287	.	.	ENSG00000076356	ENST00000367033	D	0.98164	-4.76	5.11	5.11	0.69529	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.176324	0.64402	D	0.000013	D	0.99284	0.9750	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98922	1.0784	10	0.87932	D	0	.	18.5719	0.91138	0.0:1.0:0.0:0.0	.	1166	O75051	PLXA2_HUMAN	D	1166	ENSP00000356000:G1166D	ENSP00000356000:G1166D	G	-	2	0	PLXNA2	206285177	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.538000	0.82048	2.375000	0.81037	0.563000	0.77884	GGC	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088932.6	Missense_Mutation	-	ENST00000367033.3	Splice_Site	SNP	1 : 208218554 - 208218554 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	575	5
PMFBP1	83449	broad.mit.edu	37	16	72162994	72162994	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:72162994G>A	ENST00000537465.1	-	13	2094	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	PMFBP1_ENST00000237353.10_Missense_Mutation_p.R641W|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R496W			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	646										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATTCCTGCCGCAAAGCTTCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	203	202			NA	NA	16		NA											NA				72162994		2198	4300	6498	SO:0001583	missense			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557	83449	83449			17728	protein-coding gene	gene with protein product					NA	11468771	Standard	NM_031293	NM_031293	NA	Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537465.1:c.1936C>T	16.37:g.72162994G>A	ENSP00000443817:p.Arg646Trp	NA	Q8NA09|Q9BY16|Q9H0H4	37		.	.	.	.	.	.	.	.	.	.	G	11.41	1.631994	0.29068	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13778	2.56;2.57;2.57	4.55	2.57	0.30868	.	1.083320	0.07212	N	0.859465	T	0.22166	0.0534	L	0.32530	0.975	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.56916	0.809;0.742;0.809	T	0.30208	-0.9986	10	0.87932	D	0	0.3743	10.0488	0.42203	0.0:0.0:0.6493:0.3507	.	646;641;646	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	W	646;641;496	ENSP00000443817:R646W;ENSP00000237353:R641W;ENSP00000347854:R496W	ENSP00000237353:R641W	R	-	1	2	PMFBP1	70720495	0.018000	0.18449	0.001000	0.08648	0.001000	0.01503	1.717000	0.37991	0.829000	0.34733	-0.953000	0.02652	CGG	PMFBP1-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000396483.2		-	ENST00000537465.1	Missense_Mutation	SNP	16 : 72162994 - 72162994 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	929	6
PRKACG	5568	broad.mit.edu	37	9	71628843	71628843	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:71628843C>T	ENST00000377276.2	-	1	196	c.166G>A	c.(166-168)Ggg>Agg	p.G56R		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	56	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATCACCCGCCCGAAGGAGCCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(110;2236 2623 32146)							NA				0													108	97	101			NA	NA	9		NA											NA				71628843		2203	4300	6503	SO:0001583	missense			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	5568	5568	2.7.11.1		9382	protein-coding gene	gene with protein product		176893			NA	2342480, 9598317	Standard		NM_002732	NA	Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.166G>A	9.37:g.71628843C>T	ENSP00000366488:p.Gly56Arg	NA	O60850|Q5VZ02|Q86YI1	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877235	0.51801	.	.	ENSG00000165059	ENST00000377276	T	0.80738	-1.41	1.32	1.32	0.21799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.31531	U	0.007486	D	0.92120	0.7502	H	0.98682	4.3	0.36255	D	0.854184	D	0.89917	1.0	D	0.87578	0.998	D	0.92260	0.5816	10	0.87932	D	0	.	8.1306	0.31024	0.0:1.0:0.0:0.0	.	56	P22612	KAPCG_HUMAN	R	56	ENSP00000366488:G56R	ENSP00000366488:G56R	G	-	1	0	PRKACG	70818663	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	1.488000	0.35551	0.687000	0.31509	0.563000	0.77884	GGG	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052559.1		-	ENST00000377276.2	Missense_Mutation	SNP	9 : 71628843 - 71628843 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	267	7
PRLHR	2834	broad.mit.edu	37	10	120354499	120354499	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:120354499C>T	ENST00000369169.1	-	1	257	c.258G>A	c.(256-258)gcG>gcA	p.A86A	PRLHR_ENST00000239032.2_Silent_p.A86A			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	86					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGCGCACCCGCGCGATCACCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	82	87			NA	NA	10		NA											NA				120354499		2203	4298	6501	SO:0001819	synonymous_variant			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973	2834	2834		GPCR / Class A : RF amide peptide receptors	4464	protein-coding gene	gene with protein product		600895	G protein-coupled receptor 10	GPR10	NA	8666380, 15885496	Standard	NM_004248	NM_004248	NA	Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.258G>A	10.37:g.120354499C>T		NA	O75194|Q502U8|Q5VXR9	37	CCDS7606.1																																																																																			PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050610.1		-	ENST00000369169.1	Silent	SNP	10 : 120354499 - 120354499 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	348	5
PRRG4	79056	broad.mit.edu	37	11	32852139	32852139	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:32852139G>A	ENST00000257836.3	+	2	317	c.64G>A	c.(64-66)Gca>Aca	p.A22T		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	22						extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TCCTCATTGCGCAAGAGGTCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	96	99			NA	NA	11		NA											NA				32852139		2202	4299	6501	SO:0001583	missense			AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378	79056	79056			30799	protein-coding gene	gene with protein product		611690			NA	11171957	Standard	NM_024081	NM_024081	NA	Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.64G>A	11.37:g.32852139G>A	ENSP00000257836:p.Ala22Thr	NA		37	CCDS7881.1	.	.	.	.	.	.	.	.	.	.	G	1.906	-0.451978	0.04540	.	.	ENSG00000135378	ENST00000257836	D	0.97772	-4.53	4.94	2.48	0.30137	.	0.431926	0.25089	N	0.033230	D	0.86760	0.6010	N	0.00972	-1.085	0.23624	N	0.997266	B	0.02656	0.0	B	0.01281	0.0	T	0.79431	-0.1806	10	0.21540	T	0.41	-1.9388	2.2791	0.04110	0.6037:0.1565:0.0886:0.1512	.	22	Q9BZD6	TMG4_HUMAN	T	22	ENSP00000257836:A22T	ENSP00000257836:A22T	A	+	1	0	PRRG4	32808715	0.000000	0.05858	0.827000	0.32855	0.001000	0.01503	-0.392000	0.07314	0.712000	0.32039	-0.294000	0.09567	GCA	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388446.1		+	ENST00000257836.3	Missense_Mutation	SNP	11 : 32852139 - 32852139 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	613	5
RBPJL	11317	broad.mit.edu	37	20	43943060	43943060	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:43943060G>A	ENST00000343694.3	+	9	947	c.875G>A	c.(874-876)cGt>cAt	p.R292H	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.R292H|RBPJL_ENST00000372743.1_Missense_Mutation_p.R292H	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	292					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CAGATCATCCGTAAAGTAGCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	168	149	156		875	5	1	20		156	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBPJL	NM_014276.2	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	292/518	43943060	1,13005	2203	4300	6503	SO:0001583	missense			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232	11317	11317			13761	protein-coding gene	gene with protein product			recombining binding protein suppressor of hairless (Drosophila)-like	RBPSUHL	NA	9929984	Standard	NM_014276	NM_014276	NA	Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.875G>A	20.37:g.43943060G>A	ENSP00000341243:p.Arg292His	NA	O95723|Q5QPU9|Q5QPV0|Q9ULV9	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701078	0.68501	0.0	1.16E-4	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.35605	1.3;1.3;1.3	5.03	5.03	0.67393	Beta-trefoil (2);	0.000000	0.64402	D	0.000001	T	0.58566	0.2131	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58640	-0.7601	10	0.52906	T	0.07	-28.9178	17.5316	0.87816	0.0:0.0:1.0:0.0	.	292;292	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	H	292	ENSP00000361828:R292H;ENSP00000361826:R292H;ENSP00000341243:R292H	ENSP00000341243:R292H	R	+	2	0	RBPJL	43376474	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	9.088000	0.94132	2.607000	0.88179	0.563000	0.77884	CGT	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080391.1		+	ENST00000343694.3	Missense_Mutation	SNP	20 : 43943060 - 43943060 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	508	5
RFTN1	23180	broad.mit.edu	37	3	16475415	16475415	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:16475415C>T	ENST00000334133.4	-	3	547	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RFTN1_ENST00000432519.1_Missense_Mutation_p.R56Q	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	92						plasma membrane		p.R92L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CGTCTTCTCCCGCTCATGGGT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											95	103	100			NA	NA	3		NA											NA				16475415		2203	4300	6503	SO:0001583	missense			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378	23180	23180			30278	protein-coding gene	gene with protein product	raft-linking protein				NA	7788527, 12805216	Standard	NM_015150	NM_015150	NA	Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.275G>A	3.37:g.16475415C>T	ENSP00000334153:p.Arg92Gln	NA	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	5.639	0.302648	0.10678	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.21	-8.08	0.01094	.	1.391410	0.04296	N	0.346433	T	0.13884	0.0336	N	0.16790	0.44	0.09310	N	1	B;B	0.20261	0.043;0.014	B;B	0.12837	0.008;0.003	T	0.13845	-1.0494	10	0.19147	T	0.46	0.1934	4.5627	0.12168	0.1791:0.1421:0.0834:0.5953	.	56;92	G3XAJ6;Q14699	.;RFTN1_HUMAN	Q	56;92;92;92;92;92	ENSP00000403926:R56Q;ENSP00000334153:R92Q;ENSP00000403997:R92Q;ENSP00000409427:R92Q;ENSP00000388718:R92Q;ENSP00000393216:R92Q	ENSP00000334153:R92Q	R	-	2	0	RFTN1	16450419	0.012000	0.17670	0.001000	0.08648	0.415000	0.31203	0.128000	0.15810	-2.466000	0.00533	-0.367000	0.07326	CGG	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346908.1		-	ENST00000334133.4	Missense_Mutation	SNP	3 : 16475415 - 16475415 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	668	10
SAMD12	401474	broad.mit.edu	37	8	119391680	119391680	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:119391680G>A	ENST00000314727.4	-	4	718	c.582C>T	c.(580-582)atC>atT	p.I194I	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000527515.1_Intron|SAMD12_ENST00000409003.4_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	194										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TATTTTCTATGATGGAAATTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	57	56			NA	NA	8		NA											NA				119391680		2203	4300	6503	SO:0001819	synonymous_variant			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570	401474	401474		Sterile alpha motif (SAM) domain containing	31750	protein-coding gene	gene with protein product					NA		Standard	NM_207506	NM_207506	NA	Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.582C>T	8.37:g.119391680G>A		NA	Q0P502	37	CCDS6325.1																																																																																			SAMD12-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000132989.3		-	ENST00000314727.4	Silent	SNP	8 : 119391680 - 119391680 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	234	5
SAMD7	344658	broad.mit.edu	37	3	169644499	169644499	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:169644499T>C	ENST00000428432.2	+	6	838	c.449T>C	c.(448-450)cTg>cCg	p.L150P	SAMD7_ENST00000335556.3_Missense_Mutation_p.L150P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	150										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCCGGTGACCTGCATTTTCAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	59			NA	NA	3		NA											NA				169644499		2203	4300	6503	SO:0001583	missense			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033	344658	344658		Sterile alpha motif (SAM) domain containing	25394	protein-coding gene	gene with protein product					NA		Standard	NM_182610	NM_182610	NA	Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.449T>C	3.37:g.169644499T>C	ENSP00000391299:p.Leu150Pro	NA		37	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	T	9.381	1.072926	0.20147	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.55588	0.51;0.51	6.16	3.76	0.43208	.	0.394431	0.24664	N	0.036603	T	0.35451	0.0932	N	0.21448	0.665	0.51012	D	0.999903	B	0.24533	0.105	B	0.20384	0.029	T	0.09058	-1.0692	10	0.40728	T	0.16	-0.459	8.2492	0.31706	0.1197:0.065:0.0:0.8154	.	150	Q7Z3H4	SAMD7_HUMAN	P	150	ENSP00000391299:L150P;ENSP00000334668:L150P	ENSP00000334668:L150P	L	+	2	0	SAMD7	171127193	1.000000	0.71417	0.997000	0.53966	0.051000	0.14879	3.078000	0.50096	0.541000	0.28827	0.528000	0.53228	CTG	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351959.1		+	ENST00000428432.2	Missense_Mutation	SNP	3 : 169644499 - 169644499 C PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	325	46
SH3TC1	54436	broad.mit.edu	37	4	8230216	8230216	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:8230216T>A	ENST00000245105.3	+	12	2862	c.2795T>A	c.(2794-2796)cTg>cAg	p.L932Q	SH3TC1_ENST00000539824.1_Missense_Mutation_p.L856Q	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	932							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCGTGCGGCTGTTCTCGAGG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(145;2298 2623 35616 37297)							NA				0													23	28	26			NA	NA	4		NA											NA				8230216		2200	4295	6495	SO:0001583	missense			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089	54436	54436		Tetratricopeptide (TTC) repeat domain containing	26009	protein-coding gene	gene with protein product					NA		Standard	NM_018986	NM_018986	NA	Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2795T>A	4.37:g.8230216T>A	ENSP00000245105:p.Leu932Gln	NA	Q4W5G5	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134594	0.37630	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.69306	-0.39;-0.39	4.63	3.4	0.38934	Tetratricopeptide-like helical (1);	0.234828	0.36303	N	0.002670	T	0.79575	0.4469	M	0.78049	2.395	0.44485	D	0.997427	D	0.89917	1.0	D	0.77557	0.99	T	0.79694	-0.1696	10	0.87932	D	0	-16.7905	10.304	0.43670	0.1479:0.0:0.0:0.8521	.	932	Q8TE82	S3TC1_HUMAN	Q	670;932;856;761	ENSP00000245105:L932Q;ENSP00000441045:L856Q	ENSP00000245105:L932Q	L	+	2	0	SH3TC1	8281116	1.000000	0.71417	0.885000	0.34714	0.007000	0.05969	7.019000	0.76412	0.585000	0.29608	0.459000	0.35465	CTG	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206991.2		+	ENST00000245105.3	Missense_Mutation	SNP	4 : 8230216 - 8230216 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	181	26
SLC12A5	57468	broad.mit.edu	37	20	44675062	44675062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:44675062C>T	ENST00000243964.3	+	14	1872	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	SLC12A5_ENST00000454036.2_Nonsense_Mutation_p.R615*	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	615					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACGCTTTCGATATTACCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	96	102			NA	NA	20		NA											NA				44675062		2203	4300	6503	SO:0001587	stop_gained			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140	57468	57468		Solute carriers	13818	protein-coding gene	gene with protein product		606726			NA		Standard		NM_020708	NA	Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000243964.3:c.1774C>T	20.37:g.44675062C>T	ENSP00000243964:p.Arg592*	NA	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	37	CCDS13391.1	.	.	.	.	.	.	.	.	.	.	C	38	7.042841	0.98021	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	.	.	.	4.33	4.33	0.51752	.	0.075781	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.9059	0.47079	0.1878:0.8122:0.0:0.0	.	.	.	.	X	615;592	.	ENSP00000243964:R592X	R	+	1	2	SLC12A5	44108469	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.103000	0.57783	2.253000	0.74438	0.467000	0.42956	CGA	SLC12A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079558.2		+	ENST00000243964.3	Nonsense_Mutation	SNP	20 : 44675062 - 44675062 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	438	18
SLC1A4	6509	broad.mit.edu	37	2	65243676	65243676	+	Silent	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:65243676T>A	ENST00000234256.3	+	5	1146	c.903T>A	c.(901-903)tcT>tcA	p.S301S	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	301					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCTTCGCATCTATATTGGGCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													184	178	180			NA	NA	2		NA											NA				65243676		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902	6509	6509		Solute carriers	10942	protein-coding gene	gene with protein product	alanine/serine/cysteine/threonine transporter	600229			NA	7896285, 8910405	Standard	NM_003038	NM_003038	NA	Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.903T>A	2.37:g.65243676T>A		NA	D6W5F0	37	CCDS1879.1																																																																																			SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251726.2		+	ENST00000234256.3	Silent	SNP	2 : 65243676 - 65243676 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	475	18
SLC6A19	340024	broad.mit.edu	37	5	1201792	1201792	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:1201792C>T	ENST00000304460.10	+	1	83	c.27C>T	c.(25-27)ccC>ccT	p.P9P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	9					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCCAACCCCGGCCTAGACG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4384		0,0,2192	25	26	25		27	-8	0.5	5		25	2,8590		0,2,4294	no	coding-synonymous	SLC6A19	NM_001003841.2		0,2,6486	TT,TC,CC	NA	0.0233,0.0,0.0154		9/635	1201792	2,12974	2192	4296	6488	SO:0001819	synonymous_variant			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358	340024	340024		Solute carriers	27960	protein-coding gene	gene with protein product	Hartnup disease	608893			NA		Standard	XM_291120	NM_001003841	NA	Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.27C>T	5.37:g.1201792C>T		NA	A8K446	37	CCDS34130.1																																																																																			SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365557.1		+	ENST00000304460.10	Silent	SNP	5 : 1201792 - 1201792 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	97	11
SORT1	6272	broad.mit.edu	37	1	109865648	109865648	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:109865648G>A	ENST00000256637.6	-	15	1988	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	644	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGCGTAGCCGCAGAAACTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	134	136			NA	NA	1		NA											NA				109865648		2203	4300	6503	SO:0001583	missense			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243	6272	6272			11186	protein-coding gene	gene with protein product		602458			NA		Standard	NM_002959	NM_002959	NA	Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1930C>T	1.37:g.109865648G>A	ENSP00000256637:p.Arg644Trp	NA	C0JYZ0|Q8IZ49	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317671	0.81469	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.46819	0.86;0.86	5.64	3.73	0.42828	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70353	-0.4895	10	0.87932	D	0	-17.4155	13.9284	0.63978	0.0:0.0:0.7226:0.2774	.	507;644	B4DWI3;Q99523	.;SORT_HUMAN	W	644;507	ENSP00000256637:R644W;ENSP00000438597:R507W	ENSP00000256637:R644W	R	-	1	2	SORT1	109667171	1.000000	0.71417	0.697000	0.30258	0.965000	0.64279	6.008000	0.70739	0.713000	0.32060	-0.268000	0.10319	CGG	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033179.1		-	ENST00000256637.6	Missense_Mutation	SNP	1 : 109865648 - 109865648 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	265	4
SP4	6671	broad.mit.edu	37	7	21469543	21469544	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:21469543_21469544insT	ENST00000222584.3	+	3	978_979	c.760_761insT	c.(760-762)gtafs	p.V254fs		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	254					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGCTCAAGTTGTAACAACCCTA	0.5		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866	6671	6671		Specificity protein transcription factors, Zinc fingers, C2H2-type	11209	protein-coding gene	gene with protein product		600540			NA	1454515	Standard	NM_003112	XM_005249828	NA	Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.761dupT	7.37:g.21469544_21469544dupT	ENSP00000222584:p.Val254fs	NA	O60402|Q32M52	37	CCDS5373.1																																																																																			SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211617.2		+	ENST00000222584.3	Frame_Shift_Ins	INS	7 : 21469543 - 21469544 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	312	55
STAG2	10735	broad.mit.edu	37	X	123176477	123176477	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:123176477G>A	ENST00000371160.1	+	7	734	c.444G>A	c.(442-444)atG>atA	p.M148I	STAG2_ENST00000371145.3_Missense_Mutation_p.M148I|STAG2_ENST00000354548.5_Missense_Mutation_p.M79I|STAG2_ENST00000371157.3_Missense_Mutation_p.M148I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.M148I|STAG2_ENST00000218089.9_Missense_Mutation_p.M148I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	148					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGAAAAATGACTGAAGAAT	0.299		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	76			NA	NA	X		NA											NA				123176477		2203	4300	6503	SO:0001583	missense			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972	10735	10735			11355	protein-coding gene	gene with protein product		300826			NA	9305759	Standard	NM_006603	NM_001042750	NA	Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.444G>A	X.37:g.123176477G>A	ENSP00000360202:p.Met148Ile	NA	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274155	0.80580	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	T;T;T;T;T;T;T	0.42900	1.9;0.96;1.52;1.51;1.51;1.9;1.51	5.74	4.86	0.63082	.	0.077879	0.85682	D	0.000000	T	0.60958	0.2309	M	0.83603	2.65	0.80722	D	1	D;P	0.55172	0.97;0.884	P;P	0.56700	0.804;0.54	T	0.62817	-0.6774	10	0.29301	T	0.29	-15.651	15.262	0.73631	0.0:0.0:0.8586:0.1414	.	148;148	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	148;148;79;148;148;148;148;148;148;148	ENSP00000218089:M148I;ENSP00000397265:M148I;ENSP00000346555:M79I;ENSP00000360202:M148I;ENSP00000360199:M148I;ENSP00000360187:M148I;ENSP00000360186:M148I	ENSP00000218089:M148I	M	+	3	0	STAG2	123004158	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.740000	0.98839	1.172000	0.42781	0.522000	0.50473	ATG	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156159.2		+	ENST00000371160.1	Missense_Mutation	SNP	X : 123176477 - 123176477 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	343	25
TEAD2	8463	broad.mit.edu	37	19	49845730	49845730	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:49845730T>A	ENST00000377214.4	-	10	1566	c.1204A>T	c.(1204-1206)Atg>Ttg	p.M402L	TEAD2_ENST00000539846.1_Missense_Mutation_p.M271L|TEAD2_ENST00000593945.1_Missense_Mutation_p.M403L|TEAD2_ENST00000601519.1_Missense_Mutation_p.M402L|TEAD2_ENST00000311227.2_Missense_Mutation_p.M399L|TEAD2_ENST00000598810.1_Missense_Mutation_p.M403L			Q15562	TEAD2_HUMAN	TEA domain family member 2	399	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACGCTGTTCATCATGTATCGC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	68	69			NA	NA	19		NA											NA				49845730		2203	4300	6503	SO:0001583	missense			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22					8463	8463			11715	protein-coding gene	gene with protein product		601729			NA	9889009, 8702974	Standard	NM_003598	NM_003598	NA	Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000377214.4:c.1204A>T	19.37:g.49845730T>A	ENSP00000366419:p.Met402Leu	NA	Q96IG3	37	CCDS58671.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341581	0.81911	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.33438	1.41;1.41;1.41	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000001	T	0.30510	0.0767	L	0.49571	1.57	0.80722	D	1	B;B;B	0.16396	0.003;0.017;0.0	B;B;B	0.27608	0.01;0.081;0.002	T	0.21143	-1.0254	10	0.87932	D	0	-25.0067	11.3375	0.49513	0.0:0.0:0.0:1.0	.	271;399;402	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	L	399;402;271	ENSP00000310701:M399L;ENSP00000366419:M402L;ENSP00000437928:M271L	ENSP00000310701:M399L	M	-	1	0	TEAD2	54537542	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.971000	0.88012	1.730000	0.51580	0.496000	0.49642	ATG	TEAD2-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465466.1		-	ENST00000377214.4	Missense_Mutation	SNP	19 : 49845730 - 49845730 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	346	28
TMEM104	54868	broad.mit.edu	37	17	72832228	72832228	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:72832228C>G	ENST00000417024.2	+	10	915				TMEM104_ENST00000582330.1_Missense_Mutation_p.S298C|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000335464.5_Missense_Mutation_p.S298C			Q8NE00	TM104_HUMAN	transmembrane protein 104	NA						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCCCCGTCTCCTCCAAGCGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	142	161			NA	NA	17		NA											NA				72832228		2203	4300	6503	SO:0001627	intron_variant			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066	54868	54868			25984	protein-coding gene	gene with protein product					NA		Standard	NM_017728	NM_017728	NA	Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000417024.2:c.770-2798C>G	17.37:g.72832228C>G		NA	Q8TEU1|Q9NT56|Q9NXH1	37		.	.	.	.	.	.	.	.	.	.	C	19.67	3.870313	0.72065	.	.	ENSG00000109066	ENST00000335464	T	0.02369	4.32	5.21	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.00482	-1.1713	10	0.72032	D	0.01	-45.754	13.9219	0.63937	0.0:0.9256:0.0:0.0744	.	298	Q8NE00	TM104_HUMAN	C	298	ENSP00000334849:S298C	ENSP00000334849:S298C	S	+	2	0	TMEM104	70343823	1.000000	0.71417	0.949000	0.38748	0.895000	0.52256	7.384000	0.79751	1.319000	0.45190	0.561000	0.74099	TCC	TMEM104-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444438.1		+	ENST00000417024.2	Intron	SNP	17 : 72832228 - 72832228 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	286	32
TRIML2	205860	broad.mit.edu	37	4	189018255	189018255	+	Silent	SNP	G	G	A	rs144128750		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:189018255G>A	ENST00000512729.1	-	6	929	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TRIML2_ENST00000326754.3_Silent_p.C210C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	185	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	143	134	137		555	1.8	0	4	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRIML2	NM_173553.1		0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154		185/388	189018255	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046	205860	205860			26378	protein-coding gene	gene with protein product	SPRY domain containing 6				NA		Standard	NM_173553	NM_173553	NA	Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.555C>T	4.37:g.189018255G>A		NA		37	CCDS3850.1																																																																																			TRIML2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359733.1		-	ENST00000512729.1	Silent	SNP	4 : 189018255 - 189018255 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	568	5
TRPM3	80036	broad.mit.edu	37	9	73461435	73461435	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:73461435G>T	ENST00000377111.2	-	4	778	c.535C>A	c.(535-537)Ctt>Att	p.L179I	TRPM3_ENST00000377105.1_Missense_Mutation_p.L26I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L26I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L26I|TRPM3_ENST00000377097.3_Missense_Mutation_p.L26I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L181I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L181I|TRPM3_ENST00000377101.1_Missense_Mutation_p.L26I|TRPM3_ENST00000377110.3_Missense_Mutation_p.L179I|TRPM3_ENST00000396283.1_Missense_Mutation_p.L26I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L26I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L26I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L26I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L26I|TRPM3_ENST00000396285.1_Missense_Mutation_p.L26I|TRPM3_ENST00000361823.5_Missense_Mutation_p.L26I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	179						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTTGGGAAGCTCCAACTGC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	115			NA	NA	9		NA											NA				73461435		2203	4300	6503	SO:0001583	missense			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067	80036	80036		Voltage-gated ion channels / Transient receptor potential cation channels	17992	protein-coding gene	gene with protein product	melastatin 2	608961			NA	16382100	Standard	NM_206945	NM_206946	NA	Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.535C>A	9.37:g.73461435G>T	ENSP00000366315:p.Leu179Ile	NA	A2A3F6|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.92|17.92|17.92	3.507800|3.507800|3.507800	0.64410|0.64410|0.64410	.|.|.	.|.|.	ENSG00000083067|ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.64085|.	.|-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08|.	6.01|6.01|6.01	5.1|5.1|5.1	0.69264|0.69264|0.69264	.|.|.	.|0.124281|.	.|0.56097|.	.|D|.	.|0.000031|.	T|T|T	0.76449|0.76449|0.76449	0.3989|0.3989|0.3989	M|M|M	0.77313|0.77313|0.77313	2.365|2.365|2.365	0.49389|0.49389|0.49389	D|D|D	0.999787|0.999787|0.999787	.|B;P;P;B;P;B;B;P;B;P;B|.	.|0.46656|.	.|0.049;0.85;0.493;0.107;0.882;0.361;0.021;0.604;0.361;0.858;0.107|.	.|B;B;B;B;B;B;B;B;B;P;B|.	.|0.53549|.	.|0.018;0.426;0.23;0.198;0.316;0.187;0.009;0.418;0.187;0.729;0.082|.	T|T|T	0.77752|0.77752|0.77752	-0.2470|-0.2470|-0.2470	5|10|5	.|0.49607|.	.|T|.	.|0.09|.	-28.4773|-28.4773|-28.4773	17.2209|17.2209|17.2209	0.86957|0.86957|0.86957	0.0:0.1258:0.8741:0.0|0.0:0.1258:0.8741:0.0|0.0:0.1258:0.8741:0.0	.|.|.	.|179;181;26;179;179;179;181;26;26;179;26|.	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.	D|I|R	25|179;179;26;26;26;181;26;26;26;26;181;26;26;26;26|68	.|ENSP00000366315:L179I;ENSP00000366314:L179I;ENSP00000366310:L26I;ENSP00000354066:L26I;ENSP00000366309:L26I;ENSP00000350140:L181I;ENSP00000386127:L26I;ENSP00000379581:L26I;ENSP00000379587:L26I;ENSP00000350791:L26I;ENSP00000389542:L181I;ENSP00000366305:L26I;ENSP00000379579:L26I;ENSP00000355395:L26I|.	.|ENSP00000350140:L181I|.	A|L|S	-|-|-	2|1|3	0|0|2	TRPM3|TRPM3|TRPM3	72651255|72651255|72651255	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.945000|7.945000|7.945000	0.87732|0.87732|0.87732	1.517000|1.517000|1.517000	0.48917|0.48917|0.48917	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|CTT|AGC	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000214157.5		-	ENST00000377111.2	Missense_Mutation	SNP	9 : 73461435 - 73461435 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	386	5
TSPAN11	441631	broad.mit.edu	37	12	31116773	31116773	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:31116773G>T	ENST00000261177.9	+	3	156	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Missense_Mutation_p.A33S|TSPAN11_ENST00000544427.1_Missense_Mutation_p.A23S	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	33						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGGGGGAGCAGCCGTCCTGGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	69	72			NA	NA	12		NA											NA				31116773		2203	4300	6503	SO:0001583	missense				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900	441631	441631		Tetraspanins	30795	protein-coding gene	gene with protein product					NA		Standard	XM_497334	NM_001080509	NA	Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.97G>T	12.37:g.31116773G>T	ENSP00000261177:p.Ala33Ser	NA	A1L158|B2RUX6	37	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999666	0.35320	.	.	ENSG00000110900	ENST00000546076;ENST00000544427;ENST00000261177	T;T;T	0.80738	-1.41;-1.41;-1.41	3.5	2.6	0.31112	.	0.149427	0.43919	U	0.000512	T	0.79112	0.4391	M	0.76328	2.33	0.20489	N	0.999896	P;B	0.35155	0.487;0.083	B;B	0.39465	0.3;0.177	T	0.68977	-0.5267	10	0.41790	T	0.15	.	8.7712	0.34733	0.1194:0.0:0.8806:0.0	.	23;33	F5H0F0;A1L157	.;TSN11_HUMAN	S	33;23;33	ENSP00000437403:A33S;ENSP00000439895:A23S;ENSP00000261177:A33S	ENSP00000261177:A33S	A	+	1	0	TSPAN11	31008040	0.999000	0.42202	0.004000	0.12327	0.645000	0.38454	6.020000	0.70826	0.571000	0.29365	0.457000	0.33378	GCC	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399888.1		+	ENST00000261177.9	Missense_Mutation	SNP	12 : 31116773 - 31116773 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	331	9
TSPEAR	54084	broad.mit.edu	37	21	45971146	45971146	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr21:45971146C>G	ENST00000397916.1	-	2	258				KRTAP10-2_ENST00000498210.1_Intron|KRTAP10-2_ENST00000391621.1_Missense_Mutation_p.A66P|TSPEAR_ENST00000323084.4_Intron			Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	NA					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GATTGGCAGGCGCTGGGCTCA	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	41	40			NA	NA	21		NA											NA				45971146		2200	4287	6487	SO:0001627	intron_variant			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894	54084	54084			1268	protein-coding gene	gene with protein product		612920	chromosome 21 open reading frame 29, deafness, autosomal recessive 98	C21orf29, DFNB98	NA	12095917, 22678063	Standard	NM_144991	NM_144991	NA	Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000397916.1:c.99+16522G>C	21.37:g.45971146C>G		NA		37		.	.	.	.	.	.	.	.	.	.	g	6.674	0.492977	0.12702	.	.	ENSG00000205445	ENST00000391621	T	0.00649	5.98	2.06	-0.617	0.11579	.	.	.	.	.	T	0.00178	0.0005	N	0.00088	-2.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40776	-0.9545	9	0.21014	T	0.42	.	1.7359	0.02941	0.147:0.1947:0.4614:0.1969	.	66	P60368	KR102_HUMAN	P	66	ENSP00000375479:A66P	ENSP00000375479:A66P	A	-	1	0	KRTAP10-2	44795574	0.000000	0.05858	0.087000	0.20705	0.019000	0.09904	-0.687000	0.05156	-0.131000	0.11578	-0.671000	0.03813	GCC	TSPEAR-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000195865.1		-	ENST00000397916.1	Intron	SNP	21 : 45971146 - 45971146 G PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	400	5
VLDLR	7436	broad.mit.edu	37	9	2641436	2641436	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:2641436C>T	ENST00000382100.3	+	4	741	c.385C>T	c.(385-387)Cca>Tca	p.P129S	VLDLR_ENST00000382099.2_Missense_Mutation_p.P129S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	NA	LDL-receptor class A 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TCAGTGTATCCCAGTGTCCTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													233	210	218			NA	NA	9		NA											NA				2641436		2203	4300	6503	SO:0001583	missense				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852	7436	7436		Low density lipoprotein receptors	12698	protein-coding gene	gene with protein product		192977			NA	8294473	Standard	NM_003383	XM_006716864	NA	Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.385C>T	9.37:g.2641436C>T	ENSP00000371532:p.Pro129Ser	NA	B2RMZ7|D3DRH6|Q5VVF6	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645424	0.67358	.	.	ENSG00000147852	ENST00000382100;ENST00000382099	D;D	0.95554	-3.74;-3.74	6.07	6.07	0.98685	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000066	D	0.96648	0.8906	L	0.50919	1.6	0.80722	D	1	B;B	0.33694	0.421;0.148	B;P	0.51055	0.429;0.657	D	0.95111	0.8238	10	0.49607	T	0.09	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	129;129	Q5VVF5;P98155	.;VLDLR_HUMAN	S	129	ENSP00000371532:P129S;ENSP00000371531:P129S	ENSP00000371531:P129S	P	+	1	0	VLDLR	2631436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.635000	0.61332	2.884000	0.98904	0.655000	0.94253	CCA	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051519.2		+	ENST00000382100.3	Missense_Mutation	SNP	9 : 2641436 - 2641436 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	337	6
WBSCR28	135886	broad.mit.edu	37	7	73279489	73279489	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:73279489G>A	ENST00000320531.2	+	2	275	c.239G>A	c.(238-240)gGg>gAg	p.G80E		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	80						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCTGGGCTGGGCTGGCTCTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	53	51			NA	NA	7		NA											NA				73279489		1913	4115	6028	SO:0001583	missense			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877	135886	135886			23018	protein-coding gene	gene with protein product		612547			NA	8812460	Standard	NM_182504	NM_182504	NA	Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.239G>A	7.37:g.73279489G>A	ENSP00000316775:p.Gly80Glu	NA	Q6UE04|Q8NHP4	37	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755009	0.49362	.	.	ENSG00000175877	ENST00000320531	T	0.36699	1.24	4.63	2.63	0.31362	.	0.340255	0.21598	N	0.071982	T	0.45458	0.1343	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.16600	-1.0397	10	0.87932	D	0	-14.5081	9.5408	0.39251	0.0:0.0:0.622:0.378	.	80	Q6UE05	WBS28_HUMAN	E	80	ENSP00000316775:G80E	ENSP00000316775:G80E	G	+	2	0	WBSCR28	72917425	0.201000	0.23410	0.191000	0.23289	0.093000	0.18481	1.085000	0.30840	1.121000	0.41925	0.650000	0.86243	GGG	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348130.1		+	ENST00000320531.2	Missense_Mutation	SNP	7 : 73279489 - 73279489 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	548	61
ZFYVE26	23503	broad.mit.edu	37	14	68249561	68249561	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:68249561G>A	ENST00000347230.4	-	21	4446	c.4308C>T	c.(4306-4308)taC>taT	p.Y1436Y	ZFYVE26_ENST00000555452.1_Silent_p.Y1436Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1436					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCTCGCCCGTACACTTCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	136	137	137		4308	-3.6	1	14		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFYVE26	NM_015346.3		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		1436/2540	68249561	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121	23503	23503		Zinc fingers, FYVE domain containing	20761	protein-coding gene	gene with protein product	spastizin, FYVE-CENT	612012	spastic paraplegia 15 (complicated, autosomal recessive)	SPG15	NA	9205841, 18394578	Standard	NM_015346	NM_015346	NA	Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4308C>T	14.37:g.68249561G>A		NA	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	37	CCDS9788.1																																																																																			ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412736.2		-	ENST00000347230.4	Silent	SNP	14 : 68249561 - 68249561 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	639	6
ZMYND8	23613	broad.mit.edu	37	20	45853160	45853160	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:45853160C>T	ENST00000458360.2	-	18	2659	c.2610G>A	c.(2608-2610)cgG>cgA	p.R870R	ZMYND8_ENST00000311275.7_Silent_p.R1002R|ZMYND8_ENST00000471951.2_Silent_p.R1022R|ZMYND8_ENST00000446994.2_Silent_p.R893R|ZMYND8_ENST00000372023.3_Silent_p.R924R|ZMYND8_ENST00000536340.1_Silent_p.R1029R|ZMYND8_ENST00000360911.3_Silent_p.R951R|ZMYND8_ENST00000461685.1_Silent_p.R976R|ZMYND8_ENST00000396281.4_Silent_p.R1002R|ZMYND8_ENST00000262975.4_Silent_p.R956R|ZMYND8_ENST00000355972.4_Silent_p.R1002R|ZMYND8_ENST00000352431.2_Silent_p.R976R|ZMYND8_ENST00000540497.1_Silent_p.R950R	NM_001281771.1	NP_001268700.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1002							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGGCGATGAGCCGGTCCCGCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	115	120			NA	NA	20		NA											NA				45853160		2203	4300	6503	SO:0001819	synonymous_variant			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040	23613	23613		Zinc fingers, MYND-type, Zinc fingers, PHD-type	9397	protein-coding gene	gene with protein product		615713	protein kinase C binding protein 1	PRKCBP1	NA		Standard	NM_183047	NM_001281769	NA	Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000458360.2:c.2610G>A	20.37:g.45853160C>T		NA	B7Z680|E1P5U5|Q13517|Q2HXV2|Q2HXV8|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	37		.	.	.	.	.	.	.	.	.	.	C	9.689	1.151354	0.21371	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.45	1.09	0.20402	.	.	.	.	.	T	0.56352	0.1979	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51371	-0.8714	4	.	.	.	-4.7497	8.9868	0.35999	0.3025:0.4032:0.2943:0.0	.	.	.	.	T	884	.	.	A	-	1	0	ZMYND8	45286567	0.954000	0.32549	1.000000	0.80357	0.945000	0.59286	0.114000	0.15520	0.644000	0.30656	-0.181000	0.13052	GCT	ZMYND8-011	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354388.1		-	ENST00000458360.2	Silent	SNP	20 : 45853160 - 45853160 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	646	6
ZNF184	7738	broad.mit.edu	37	6	27419236	27419236	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27419236T>A	ENST00000211936.6	-	6	2386	c.2102A>T	c.(2101-2103)aAt>aTt	p.N701I	ZNF184_ENST00000377419.1_Missense_Mutation_p.N701I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTGCATTCATTACAGTTATA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	144	142			NA	NA	6		NA											NA				27419236		2203	4300	6503	SO:0001583	missense			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654	7738	7738		Zinc fingers, C2H2-type, -	12975	protein-coding gene	gene with protein product		602277	zinc finger protein 184 (Kruppel-like)		NA		Standard	NM_007149	NM_007149	NA	Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2102A>T	6.37:g.27419236T>A	ENSP00000211936:p.Asn701Ile	NA	B2R715|O60792|Q8TBA9	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.349106	0.24426	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07567	3.18;3.18	5.18	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.646540	0.03257	N	0.182648	T	0.03263	0.0095	L	0.51914	1.62	0.09310	N	1	B	0.26845	0.161	B	0.33392	0.163	T	0.45220	-0.9276	10	0.45353	T	0.12	.	5.6461	0.17590	0.0:0.2477:0.4327:0.3196	.	701	Q99676	ZN184_HUMAN	I	701;701;617	ENSP00000211936:N701I;ENSP00000366636:N701I	ENSP00000211936:N701I	N	-	2	0	ZNF184	27527215	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-2.952000	0.00677	-0.409000	0.07553	0.482000	0.46254	AAT	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040146.1		-	ENST00000211936.6	Missense_Mutation	SNP	6 : 27419236 - 27419236 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	600	5
ZNF645	158506	broad.mit.edu	37	X	22292216	22292216	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:22292216G>A	ENST00000323684.1	+	1	1152	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	370						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCAGTTCACCGAAAATCAAGA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	103	111			NA	NA	X		NA											NA				22292216		2203	4300	6503	SO:0001583	missense			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809	158506	158506			26371	protein-coding gene	gene with protein product					NA		Standard	NM_152577	NM_152577	NA	Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.1108G>A	X.37:g.22292216G>A	ENSP00000323348:p.Glu370Lys	NA	A0AV29|A0AV31|Q6DJY9	37	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921190	0.33908	.	.	ENSG00000175809	ENST00000323684	T	0.44881	0.91	2.9	2.03	0.26663	.	0.187414	0.44902	U	0.000420	T	0.44787	0.1310	L	0.50333	1.59	0.24531	N	0.994111	D	0.61080	0.989	P	0.54856	0.762	T	0.23547	-1.0185	10	0.46703	T	0.11	.	7.378	0.26839	0.143:0.0:0.857:0.0	.	370	Q8N7E2	ZN645_HUMAN	K	370	ENSP00000323348:E370K	ENSP00000323348:E370K	E	+	1	0	ZNF645	22202137	0.998000	0.40836	0.003000	0.11579	0.002000	0.02628	1.969000	0.40510	0.622000	0.30249	-0.191000	0.12829	GAA	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056037.1		+	ENST00000323684.1	Missense_Mutation	SNP	X : 22292216 - 22292216 A PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	404	31
ZSCAN21	7589	broad.mit.edu	37	7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:99662020C>T	ENST00000292450.4	+	4	1366	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	401					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	82	84			NA	NA	7		NA											NA				99662020		2203	4300	6503	SO:0001583	missense			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529	7589	7589		-, Zinc fingers, C2H2-type	13104	protein-coding gene	gene with protein product		601261	zinc finger protein 38 (KOX 25), zinc finger protein 38	ZNF38	NA	2288909, 2014798	Standard	NM_145914	NM_145914	NA	Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1202C>T	7.37:g.99662020C>T	ENSP00000292450:p.Ala401Val	NA	A4D2A6|D6W5T9|Q9H0B5	37	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.269217|3.269217	0.59540|0.59540	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748	T|T;T	0.01068|0.02236	5.38|4.38;4.38	4.52|4.52	4.52|4.52	0.55395|0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000813|.	T|T	0.03136|0.03136	0.0092|0.0092	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	D|D	0.71674|0.63880	0.998|0.993	B|P	0.42030|0.47705	0.373|0.555	T|T	0.54009|0.54009	-0.8357|-0.8357	10|9	0.87932|0.87932	D|D	0|0	.|.	10.2257|10.2257	0.43225|0.43225	0.1979:0.8021:0.0:0.0|0.1979:0.8021:0.0:0.0	.|.	401|367	Q9Y5A6|G3V1M0	ZSC21_HUMAN|.	V|W	401;376|367	ENSP00000292450:A401V|ENSP00000441212:R367W;ENSP00000390960:R367W	ENSP00000292450:A401V|ENSP00000390960:R367W	A|R	+|+	2|1	0|2	ZSCAN21|ZSCAN21	99499956|99499956	0.000000|0.000000	0.05858|0.05858	0.954000|0.954000	0.39281|0.39281	0.389000|0.389000	0.30415|0.30415	0.403000|0.403000	0.20982|0.20982	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GCG|CGG	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336166.1		+	ENST00000292450.4	Missense_Mutation	SNP	7 : 99662020 - 99662020 T PAAD-TCGA-LB-A8F3-Tumor-SM-5KWXM	345	5
