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
ACRC	93953	broad.mit.edu	37	X	70823856	70823856	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:70823856A>T	ENST00000373695.1	+	7	1266	c.729A>T	c.(727-729)gaA>gaT	p.E243D	ACRC_ENST00000373696.3_Missense_Mutation_p.E243D			Q96QF7	ACRC_HUMAN	acidic repeat containing	243	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATGATTCGGAAGCTCCCGACG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	135	141			NA	NA	X		NA											NA				70823856		2203	4300	6503	SO:0001583	missense			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174	93953	93953			15805	protein-coding gene	gene with protein product		300369			NA		Standard		NM_052957	NA	Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.729A>T	X.37:g.70823856A>T	ENSP00000362799:p.Glu243Asp	NA	B9EG62	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	-	2.020	-0.424863	0.04734	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34072	1.38;1.38	0.131	0.131	0.14755	.	.	.	.	.	T	0.12987	0.0315	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31724	-0.9933	9	0.15499	T	0.54	.	4.572	0.12214	0.9995:0.0:5.0E-4:0.0	.	243	Q96QF7	ACRC_HUMAN	D	243	ENSP00000362800:E243D;ENSP00000362799:E243D	ENSP00000362799:E243D	E	+	3	2	ACRC	70740581	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.865000	0.04250	0.134000	0.18681	0.133000	0.15847	GAA	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000081856.1		+	ENST00000373695.1	Missense_Mutation	SNP	X : 70823856 - 70823856 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	1099	9
ANK2	287	broad.mit.edu	37	4	114203916	114203916	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr4:114203916A>T	ENST00000357077.4	+	18	2020	c.1967A>T	c.(1966-1968)aAc>aTc	p.N656I	ANK2_ENST00000394537.3_Missense_Mutation_p.N656I|ANK2_ENST00000264366.6_Missense_Mutation_p.N656I|ANK2_ENST00000506722.1_Missense_Mutation_p.N635I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	656					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGAGACAAACATTGTGACA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	105	114			NA	NA	4		NA											NA				114203916		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1967A>T	4.37:g.114203916A>T	ENSP00000349588:p.Asn656Ile	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654034	0.88056	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71461	-0.57;2.06;-0.57;-0.57;-0.57;-0.57;-0.57	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.099795	0.43579	D	0.000555	D	0.85435	0.5696	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.76494	0.996;0.999;0.995;0.989;0.857	D;D;D;D;P	0.69824	0.964;0.966;0.939;0.917;0.66	D	0.88380	0.3001	10	0.87932	D	0	.	15.2245	0.73339	1.0:0.0:0.0:0.0	.	656;656;656;635;635	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	I	635;602;635;671;656;656;656;635	ENSP00000423799:N635I;ENSP00000421011:N602I;ENSP00000421067:N635I;ENSP00000424722:N671I;ENSP00000378044:N656I;ENSP00000349588:N656I;ENSP00000264366:N656I	ENSP00000264366:N656I	N	+	2	0	ANK2	114423365	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.405000	0.80007	2.031000	0.59945	0.533000	0.62120	AAC	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114203916 - 114203916 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	203	7
ANKRD35	148741	broad.mit.edu	37	1	145567068	145567068	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:145567068C>T	ENST00000355594.4	+	12	3003	c.2916C>T	c.(2914-2916)taC>taT	p.Y972Y		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	972										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTCCACCTACAGGAATCATC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(9;127 754 22988 51047)							NA				0													174	160	164			NA	NA	1		NA											NA				145567068		2203	4300	6503	SO:0001819	synonymous_variant			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483	148741	148741		Ankyrin repeat domain containing	26323	protein-coding gene	gene with protein product					NA		Standard	NM_144698	NM_144698	NA	Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2916C>T	1.37:g.145567068C>T		NA	A6NEU0|Q3MJ10|Q96LS3	37	CCDS919.1																																																																																			ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000038515.1		+	ENST00000355594.4	Silent	SNP	1 : 145567068 - 145567068 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	553	26
ARHGAP15	55843	broad.mit.edu	37	2	144525606	144525606	+	Silent	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:144525606G>T	ENST00000295095.6	+	14	1460	c.1293G>T	c.(1291-1293)ggG>ggT	p.G431G	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	431	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGCTTGGGGATTGTATTTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	128	130			NA	NA	2		NA											NA				144525606		2203	4300	6503	SO:0001819	synonymous_variant			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884	55843	55843		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	21030	protein-coding gene	gene with protein product		610578			NA	12650940, 11042152	Standard	NM_018460	NM_018460	NA	Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1293G>T	2.37:g.144525606G>T		NA	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	37	CCDS2184.1																																																																																			ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254793.2		+	ENST00000295095.6	Silent	SNP	2 : 144525606 - 144525606 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	549	20
ARHGAP9	64333	broad.mit.edu	37	12	57871243	57871243	+	Splice_Site	SNP	G	G	A	rs147287939		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:57871243G>A	ENST00000393797.2	-	7	1160	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ARHGAP9_ENST00000430041.2_Splice_Site_p.T68M|ARHGAP9_ENST00000356411.2_Splice_Site_p.T252M|ARHGAP9_ENST00000424809.2_Splice_Site_p.T252M|ARHGAP9_ENST00000550288.1_Splice_Site_p.T331M|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393791.3_Splice_Site_p.T252M			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	252	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGGTCTCACCGTCTCGCTGCG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	54	60	58		203,755,755	-2.7	0	12	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice,missense-near-splice,missense-near-splice	ARHGAP9	NM_001080156.1,NM_001080157.1,NM_032496.2	81,81,81	0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231	benign,benign,benign	68/548,252/641,252/732	57871243	3,13003	2203	4300	6503	SO:0001630	splice_region_variant			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329	64333	64333		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	14130	protein-coding gene	gene with protein product		610576			NA	11396949	Standard	NM_032496	NM_032496	NA	Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000393797.2:c.969+1C>T	12.37:g.57871243G>A		NA	Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	37		.	.	.	.	.	.	.	.	.	.	G	7.299	0.612678	0.14066	2.27E-4	2.33E-4	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066	T;T;T;T;T;T	0.48522	3.05;3.05;1.69;3.04;2.95;0.81	3.29	-2.65	0.06095	.	1.008660	0.07975	N	0.984731	T	0.28167	0.0695	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B	0.25955	0.138;0.016;0.001;0.005;0.008;0.004	B;B;B;B;B;B	0.11329	0.004;0.004;0.001;0.006;0.002;0.003	T	0.11446	-1.0587	10	0.33940	T	0.23	.	5.1466	0.14989	0.4042:0.0:0.4589:0.1369	.	252;331;252;252;252;68	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	M	252;252;252;323;301;68;68;68;105;68	ENSP00000377380:T252M;ENSP00000348782:T252M;ENSP00000394307:T252M;ENSP00000377386:T323M;ENSP00000397950:T68M;ENSP00000449829:T68M	ENSP00000344852:T301M	T	-	2	0	ARHGAP9	56157510	0.001000	0.12720	0.013000	0.15412	0.024000	0.10985	-0.850000	0.04317	-0.995000	0.03459	-0.797000	0.03246	ACG	ARHGAP9-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000316538.3	Missense_Mutation	-	ENST00000393797.2	Splice_Site	SNP	12 : 57871243 - 57871243 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	372	21
ATP2A2	488	broad.mit.edu	37	12	110778544	110778544	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:110778544G>A	ENST00000308664.6	+	14	2516	c.1842G>A	c.(1840-1842)cgG>cgA	p.R614R	ATP2A2_ENST00000395494.2_Silent_p.R587R|ATP2A2_ENST00000539276.2_Silent_p.R614R	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	614					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGCTGTGCCGGCAAGCAGGCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	12		NA											NA				110778544		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	488	488	3.6.3.8	ATPases / P-type	812	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 2, calcium pump 2	108740		ATP2B, DAR	NA	10080178	Standard	NM_001681	NM_170665	NA	Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000308664.6:c.1842G>A	12.37:g.110778544G>A		NA	A6NDN7|B4DF05|P16614|Q86VJ2	37	CCDS9143.1	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211730	0.22289	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	-1.46	0.08800	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38415	-0.9662	4	.	.	.	.	6.5171	0.22254	0.3725:0.3045:0.323:0.0	.	.	.	.	T	505	.	.	A	+	1	0	ATP2A2	109262927	0.478000	0.25917	0.955000	0.39395	0.960000	0.62799	-0.155000	0.10115	-0.590000	0.05866	-0.889000	0.02933	GCA	ATP2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403537.1		+	ENST00000308664.6	Silent	SNP	12 : 110778544 - 110778544 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	359	5
BICC1	80114	broad.mit.edu	37	10	60560029	60560029	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:60560029C>T	ENST00000373886.3	+	13	1805	c.1801C>T	c.(1801-1803)Ccg>Tcg	p.P601S	BICC1_ENST00000263103.1_Missense_Mutation_p.P227S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	601					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCACGGGGATCCGTCCATCCA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	46	47			NA	NA	10		NA											NA				60560029		2203	4300	6503	SO:0001583	missense			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870	80114	80114		Sterile alpha motif (SAM) domain containing	19351	protein-coding gene	gene with protein product		614295	bicaudal C homolog 1 (Drosophila)		NA		Standard	NM_025044	XM_005270166	NA	Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1801C>T	10.37:g.60560029C>T	ENSP00000362993:p.Pro601Ser	NA		37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	5.695	0.312787	0.10789	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.46451	1.74;0.87	6.02	6.02	0.97574	.	0.159123	0.64402	D	0.000013	T	0.22399	0.0540	N	0.14661	0.345	0.27805	N	0.942355	B;B	0.17852	0.024;0.003	B;B	0.12156	0.007;0.003	T	0.19192	-1.0313	10	0.06891	T	0.86	-15.2366	10.2723	0.43489	0.0:0.6824:0.2487:0.0689	.	521;601	E7EU62;Q9H694	.;BICC1_HUMAN	S	601;227	ENSP00000362993:P601S;ENSP00000263103:P227S	ENSP00000263103:P227S	P	+	1	0	BICC1	60230035	0.935000	0.31712	1.000000	0.80357	0.353000	0.29299	0.429000	0.21412	2.865000	0.98341	0.655000	0.94253	CCG	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048150.2		+	ENST00000373886.3	Missense_Mutation	SNP	10 : 60560029 - 60560029 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	236	11
CCDC172	374355	broad.mit.edu	37	10	118117425	118117425	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:118117425C>T	ENST00000333254.3	+	7	879	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_198515.2	NP_940917.1			coiled-coil domain containing 172	NA											NA						CAGTGAAAAGCCTCAAAATGA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	10		NA											NA				118117425		2198	4284	6482	SO:0001583	missense			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645	374355	374355			30524	protein-coding gene	gene with protein product			chromosome 10 open reading frame 96	C10orf96	NA	12477932	Standard	NM_198515	NM_198515	NA	Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.628C>T	10.37:g.118117425C>T	ENSP00000329860:p.Pro210Ser	NA		37	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035459	0.54896	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.80287	0.4595	M	0.74258	2.255	0.49798	D	0.999823	D	0.89917	1.0	D	0.77557	0.99	T	0.81872	-0.0733	9	0.87932	D	0	-16.2963	19.5748	0.95438	0.0:1.0:0.0:0.0	.	210	P0C7W6	CJ096_HUMAN	S	210	.	ENSP00000329860:P210S	P	+	1	0	C10orf96	118107415	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	5.059000	0.64306	2.622000	0.88805	0.557000	0.71058	CCT	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050516.2		+	ENST00000333254.3	Missense_Mutation	SNP	10 : 118117425 - 118117425 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	188	8
CCDC30	728621	broad.mit.edu	37	1	43102964	43102964	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:43102964G>A	ENST00000340612.4	+	10	1553	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	CCDC30_ENST00000428554.2_Missense_Mutation_p.R518H|CCDC30_ENST00000342022.4_Missense_Mutation_p.R518H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R307H|CCDC30_ENST00000390640.4_Missense_Mutation_p.R307H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	518										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTCAAGTATCGTTTAACTAAT	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	64			NA	NA	1		NA											NA				43102964		2203	4300	6503	SO:0001583	missense			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409	728621	728621			26103	protein-coding gene	gene with protein product	prefoldin 6-like				NA	16710767	Standard	NM_025030	NM_001080850	NA	Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1553G>A	1.37:g.43102964G>A	ENSP00000340378:p.Arg518His	NA	Q14F06|Q5VVM5	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	1.478	-0.557961	0.03967	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.15	-4.26	0.03755	.	0.936186	0.09089	N	0.850066	T	0.21022	0.0506	N	0.20685	0.6	0.09310	N	1	B;B	0.26041	0.004;0.14	B;B	0.14578	0.004;0.011	T	0.16482	-1.0401	10	0.28530	T	0.3	.	6.4888	0.22103	0.4884:0.0:0.3932:0.1184	.	518;307	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	H	518;307;518;518;307	ENSP00000397035:R518H;ENSP00000426711:R307H;ENSP00000340378:R518H;ENSP00000339280:R518H;ENSP00000375051:R307H	ENSP00000340378:R518H	R	+	2	0	CCDC30	42875551	0.000000	0.05858	0.008000	0.14137	0.303000	0.27691	-1.863000	0.01651	-0.705000	0.05035	-0.378000	0.06908	CGT	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019524.3		+	ENST00000340612.4	Missense_Mutation	SNP	1 : 43102964 - 43102964 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	350	8
CD1D	912	broad.mit.edu	37	1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	219	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCTGCTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	85	85			NA	NA	1		NA											NA				158152716		2203	4300	6503	SO:0001583	missense			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473	912	912		CD molecules, Immunoglobulin superfamily / C1-set domain containing	1637	protein-coding gene	gene with protein product		188410	CD1D antigen, d polypeptide, CD1d antigen		NA	2463622	Standard	NM_001766	NM_001766	NA	Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.656G>A	1.37:g.158152716G>A	ENSP00000357153:p.Arg219His	NA	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	37	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606585	0.28623	.	.	ENSG00000158473	ENST00000368171	T	0.13901	2.55	5.18	-0.738	0.11125	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.528179	0.17322	N	0.178449	T	0.01592	0.0051	N	0.13043	0.29	0.26068	N	0.981252	B	0.21688	0.059	B	0.14578	0.011	T	0.46527	-0.9185	10	0.19147	T	0.46	-1.3462	4.2679	0.10771	0.4919:0.1772:0.3308:0.0	.	219	P15813	CD1D_HUMAN	H	219	ENSP00000357153:R219H	ENSP00000357153:R219H	R	+	2	0	CD1D	156419340	0.000000	0.05858	0.998000	0.56505	0.830000	0.47004	-1.412000	0.02476	0.204000	0.20548	-0.751000	0.03497	CGT	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058340.1		+	ENST00000368171.3	Missense_Mutation	SNP	1 : 158152716 - 158152716 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	550	33
COL12A1	1303	broad.mit.edu	37	6	75884826	75884826	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:75884826C>A	ENST00000322507.8	-	13	2947	c.2638G>T	c.(2638-2640)Gcc>Tcc	p.A880S	COL12A1_ENST00000483888.2_Missense_Mutation_p.A880S|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A880S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	880	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAGATAAGGCGTATTGTGTC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													255	252	253			NA	NA	6		NA											NA				75884826		2018	4174	6192	SO:0001583	missense			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	1303	1303		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens, Fibronectin type III domain containing	2188	protein-coding gene	gene with protein product	collagen type XII proteoglycan	120320	collagen, type XII, alpha 1-like	COL12A1L	NA	9143499	Standard	NM_004370	XM_006715334	NA	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2638G>T	6.37:g.75884826C>A	ENSP00000325146:p.Ala880Ser	NA	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	2.403	-0.337063	0.05278	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.55413	0.52;0.52;0.52	5.94	1.54	0.23209	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.364138	0.26262	N	0.025382	T	0.04634	0.0126	N	0.00683	-1.26	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45264	-0.9273	10	0.09338	T	0.73	.	6.377	0.21513	0.1909:0.5768:0.0:0.2323	.	880	Q99715	COCA1_HUMAN	S	880	ENSP00000325146:A880S;ENSP00000412864:A880S;ENSP00000421216:A880S	ENSP00000325146:A880S	A	-	1	0	COL12A1	75941546	0.123000	0.22298	0.345000	0.25642	0.519000	0.34347	0.857000	0.27831	0.338000	0.23692	0.557000	0.71058	GCC	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041249.3		-	ENST00000322507.8	Missense_Mutation	SNP	6 : 75884826 - 75884826 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	751	6
CROCC	9696	broad.mit.edu	37	1	17266463	17266463	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:17266463C>T	ENST00000375541.5	+	13	1752	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	561					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCGAGAGCGAGCGGCGGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4399		0,1,2199	41	40	40		1683	-9.8	0.1	1		40	1,8583		0,1,4291	no	coding-synonymous	CROCC	NM_014675.3		0,2,6490	TT,TC,CC	NA	0.0116,0.0227,0.0154		561/2018	17266463	2,12982	2200	4292	6492	SO:0001819	synonymous_variant			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453	9696	9696			21299	protein-coding gene	gene with protein product	rootletin, ciliary rootlet protein	615776			NA	12427867, 17971504	Standard	NM_014675	XM_006711056	NA	Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1683C>T	1.37:g.17266463C>T		NA	Q2VHY3|Q66GT7|Q7Z2L4|Q7Z5D7	37	CCDS30616.1																																																																																			CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006249.2		+	ENST00000375541.5	Silent	SNP	1 : 17266463 - 17266463 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	490	6
CROCC	9696	broad.mit.edu	37	1	17266471	17266471	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:17266471G>A	ENST00000375541.5	+	13	1760	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	564					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCGAGCGGCGGGCCCTAGAG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	35	36			NA	NA	1		NA											NA				17266471		2202	4293	6495	SO:0001583	missense			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453	9696	9696			21299	protein-coding gene	gene with protein product	rootletin, ciliary rootlet protein	615776			NA	12427867, 17971504	Standard	NM_014675	XM_006711056	NA	Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1691G>A	1.37:g.17266471G>A	ENSP00000364691:p.Arg564Gln	NA	Q2VHY3|Q66GT7|Q7Z2L4|Q7Z5D7	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845799	0.51164	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10960	2.82	4.89	4.89	0.63831	.	.	.	.	.	T	0.25195	0.0612	L	0.52126	1.63	0.50467	D	0.999872	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.81914	0.786;0.905;0.995	T	0.01626	-1.1309	9	0.15499	T	0.54	.	16.3533	0.83225	0.0:0.0:1.0:0.0	.	427;427;564	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	Q	564;445	ENSP00000364691:R564Q	ENSP00000364691:R564Q	R	+	2	0	CROCC	17139058	0.368000	0.25031	0.853000	0.33588	0.524000	0.34500	3.069000	0.50026	2.651000	0.90000	0.561000	0.74099	CGG	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006249.2		+	ENST00000375541.5	Missense_Mutation	SNP	1 : 17266471 - 17266471 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	455	6
ETNK2	55224	broad.mit.edu	37	1	204115868	204115868	+	Missense_Mutation	SNP	C	C	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:204115868C>G	ENST00000367202.4	-	3	693	c.543G>C	c.(541-543)aaG>aaC	p.K181N	ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367201.3_Missense_Mutation_p.K181N|ETNK2_ENST00000367198.2_Missense_Mutation_p.K3N	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	181							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TAGTATGAATCTTTGCCATTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	119	126			NA	NA	1		NA											NA				204115868		2203	4300	6503	SO:0001583	missense			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845	55224	55224			25575	protein-coding gene	gene with protein product		609859			NA	12477932	Standard	NM_018208	XM_005245302	NA	Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.543G>C	1.37:g.204115868C>G	ENSP00000356170:p.Lys181Asn	NA	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	37	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434087	0.62955	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.34	3.33	0.38152	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.225367	0.44902	D	0.000408	T	0.68238	0.2979	M	0.79926	2.475	0.36731	D	0.881739	P;D	0.56035	0.792;0.974	P;P	0.56343	0.542;0.796	T	0.75184	-0.3407	10	0.54805	T	0.06	-18.004	8.4404	0.32812	0.0:0.7574:0.0:0.2426	.	181;181	Q9NVF9;Q9NVF9-2	EKI2_HUMAN;.	N	181;181;47;3;47;38	ENSP00000356169:K181N;ENSP00000356170:K181N;ENSP00000356166:K3N;ENSP00000405497:K47N;ENSP00000398091:K38N	ENSP00000356166:K3N	K	-	3	2	ETNK2	202382491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.667000	0.25112	1.489000	0.48450	0.655000	0.94253	AAG	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087893.1		-	ENST00000367202.4	Missense_Mutation	SNP	1 : 204115868 - 204115868 G PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	202	5
EVPL	2125	broad.mit.edu	37	17	74004853	74004853	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:74004853G>A	ENST00000301607.3	-	22	4686	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	EVPL_ENST00000586740.1_Missense_Mutation_p.T1500M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1478	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGGGCTTCCGTGGACTTCTC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	130	133			NA	NA	17		NA											NA				74004853		2203	4300	6503	SO:0001583	missense			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880	2125	2125			3503	protein-coding gene	gene with protein product		601590			NA	8938451, 10409435	Standard	NM_001988	NM_001988	NA	Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4433C>T	17.37:g.74004853G>A	ENSP00000301607:p.Thr1478Met	NA	A0AUV5	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061342	0.36373	.	.	ENSG00000167880	ENST00000301607	T	0.51071	0.72	4.97	2.95	0.34219	.	0.260239	0.37348	N	0.002130	T	0.56499	0.1989	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.993	P;P	0.60886	0.88;0.557	T	0.43491	-0.9388	10	0.33141	T	0.24	-10.1564	7.5309	0.27683	0.1539:0.1373:0.7088:0.0	.	1500;1478	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1478	ENSP00000301607:T1478M	ENSP00000301607:T1478M	T	-	2	0	EVPL	71516448	0.967000	0.33354	0.054000	0.19295	0.810000	0.45777	4.105000	0.57797	1.081000	0.41110	0.561000	0.74099	ACG	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449483.1		-	ENST00000301607.3	Missense_Mutation	SNP	17 : 74004853 - 74004853 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	606	6
FANCA	2175	broad.mit.edu	37	16	89858476	89858476	+	Splice_Site	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:89858476G>T	ENST00000389301.3	-	13	1114	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	FANCA_ENST00000568369.1_Splice_Site_p.L362I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	362					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ATCACAAAGAGCTGAAATAAA	0.542		NA	D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0													99	95	96			NA	NA	16		NA											NA				89858476		2198	4300	6498	SO:0001630	splice_region_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741	2175	2175		Fanconi anemia, complementation groups	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH	NA	7581462, 9382107	Standard		NM_001286167	NA	Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1084-1C>A	16.37:g.89858476G>T		NA	A5D923|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808175	0.50421	.	.	ENSG00000187741	ENST00000389301	T	0.67523	-0.27	5.64	3.65	0.41850	.	0.456880	0.18430	N	0.141443	T	0.60958	0.2309	M	0.71581	2.175	0.80722	D	1	P;P	0.38788	0.647;0.639	B;B	0.30943	0.091;0.122	T	0.60347	-0.7281	10	0.44086	T	0.13	-13.4105	11.8401	0.52348	0.0:0.1373:0.7281:0.1346	.	362;362	B4DRI7;O15360	.;FANCA_HUMAN	I	362	ENSP00000373952:L362I	ENSP00000373952:L362I	L	-	1	0	FANCA	88385977	1.000000	0.71417	0.996000	0.52242	0.308000	0.27856	3.211000	0.51137	0.725000	0.32318	-0.139000	0.14373	CTC	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421927.1	Missense_Mutation	-	ENST00000389301.3	Splice_Site	SNP	16 : 89858476 - 89858476 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	280	5
FOLH1	2346	broad.mit.edu	37	11	49186320	49186320	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:49186320G>C	ENST00000340334.7	-	14	1700	c.1332C>G	c.(1330-1332)aaC>aaG	p.N444K	FOLH1_ENST00000356696.3_Missense_Mutation_p.N459K|FOLH1_ENST00000533034.1_Missense_Mutation_p.N444K|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Missense_Mutation_p.N151K|FOLH1_ENST00000256999.2_Missense_Mutation_p.N459K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	459	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCAGAGTGTAGTTTCCTGAAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	33	32			NA	NA	11		NA											NA				49186320		2197	4289	6486	SO:0001583	missense			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	2346	2346	3.4.17.21		3788	protein-coding gene	gene with protein product	glutamate carboxylase II, glutamate carboxypeptidase II	600934		FOLH	NA	9838072	Standard	NM_004476	NM_001193472	NA	Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000340334.7:c.1332C>G	11.37:g.49186320G>C	ENSP00000344131:p.Asn444Lys	NA	A4UU12|A9CB79|B7Z343|D3DQS5|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	37	CCDS53628.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245817	0.39697	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	3.55	1.58	0.23477	Peptidase M28 (1);	0.093737	0.45867	N	0.000325	T	0.53254	0.1785	M	0.66439	2.03	0.45883	D	0.998732	D;D;D;P	0.69078	0.968;0.987;0.997;0.787	P;P;D;B	0.66979	0.823;0.86;0.948;0.416	T	0.48210	-0.9055	10	0.51188	T	0.08	.	5.6849	0.17797	0.3702:0.0:0.6298:0.0	.	444;444;459;459	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	K	459;459;444;151;444;462	ENSP00000256999:N459K;ENSP00000349129:N459K;ENSP00000344131:N444K;ENSP00000344086:N151K;ENSP00000431463:N444K	ENSP00000256999:N459K	N	-	3	2	FOLH1	49142896	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.017000	0.29989	0.194000	0.20326	0.405000	0.27470	AAC	FOLH1-003	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390899.1		-	ENST00000340334.7	Missense_Mutation	SNP	11 : 49186320 - 49186320 C PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	294	4
GABRQ	55879	broad.mit.edu	37	X	151821056	151821056	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:151821056C>T	ENST00000370306.2	+	9	1231	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	404						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATCACCCCAGCGCAGGCCCCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	64	65			NA	NA	X		NA											NA				151821056		2203	4300	6503	SO:0001583	missense			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089	55879	55879		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	14454	protein-coding gene	gene with protein product	GABA(A) receptor, theta	300349	gamma-aminobutyric acid (GABA) receptor, theta		NA	10804200, 10449790	Standard	NM_018558	NM_018558	NA	Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1211C>T	X.37:g.151821056C>T	ENSP00000359329:p.Ala404Val	NA	A6NFN1|Q32MB4|Q9NZK8	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155193	0.38021	.	.	ENSG00000147402	ENST00000370306	D	0.85556	-2.0	4.59	-3.96	0.04106	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.728271	0.11312	N	0.577006	T	0.63271	0.2497	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.50651	-0.8803	10	0.18276	T	0.48	.	1.1737	0.01831	0.1361:0.3019:0.2665:0.2954	.	404	Q9UN88	GBRT_HUMAN	V	404	ENSP00000359329:A404V	ENSP00000359329:A404V	A	+	2	0	GABRQ	151571712	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	0.022000	0.13511	-0.993000	0.03467	0.600000	0.82982	GCG	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058763.2		+	ENST00000370306.2	Missense_Mutation	SNP	X : 151821056 - 151821056 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	378	22
GPC5	2262	broad.mit.edu	37	13	92101122	92101122	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr13:92101122A>G	ENST00000377067.3	+	2	643	c.271A>G	c.(271-273)Acg>Gcg	p.T91A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	91						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTTTCTTCAAACGTCCAGCTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	123	127			NA	NA	13		NA											NA				92101122		2203	4300	6503	SO:0001583	missense			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399	2262	2262		Proteoglycans / Cell Surface : Glypicans	4453	protein-coding gene	gene with protein product	glypican proteoglycan 5	602446			NA	9070915, 20304703, 19556317, 15057823	Standard	NM_004466	NM_004466	NA	Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.271A>G	13.37:g.92101122A>G	ENSP00000366267:p.Thr91Ala	NA	B2R726|O60436|Q9BX27	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	8.274	0.814030	0.16537	.	.	ENSG00000179399	ENST00000377067	T	0.47528	0.84	5.5	0.224	0.15297	.	0.228421	0.44483	N	0.000455	T	0.31389	0.0795	L	0.42245	1.32	0.30752	N	0.745058	B	0.28470	0.213	B	0.28139	0.086	T	0.18304	-1.0341	10	0.22109	T	0.4	.	4.9471	0.13994	0.663:0.0:0.2116:0.1254	.	91	P78333	GPC5_HUMAN	A	91	ENSP00000366267:T91A	ENSP00000366267:T91A	T	+	1	0	GPC5	90899123	0.881000	0.30235	0.790000	0.31976	0.231000	0.25187	0.600000	0.24104	-0.165000	0.10908	0.383000	0.25322	ACG	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045454.1		+	ENST00000377067.3	Missense_Mutation	SNP	13 : 92101122 - 92101122 G PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	467	25
GREB1	9687	broad.mit.edu	37	2	11773143	11773143	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:11773143G>A	ENST00000381486.2	+	28	5245	c.4945G>A	c.(4945-4947)Gtg>Atg	p.V1649M	GREB1_ENST00000234142.5_Missense_Mutation_p.V1649M|GREB1_ENST00000396123.1_Missense_Mutation_p.V647M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1649						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACTCCTGCGTGATGTGGAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(39;850 945 2785 23371 33093)							NA				0													133	143	139			NA	NA	2		NA											NA				11773143		2148	4247	6395	SO:0001583	missense				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	9687	9687			24885	protein-coding gene	gene with protein product	gene regulated by estrogen in breast cancer	611736			NA	11103799	Standard	NM_014668	NM_014668	NA	Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4945G>A	2.37:g.11773143G>A	ENSP00000370896:p.Val1649Met	NA	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775048	0.90108	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.59364	0.27;0.27;0.27	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.77349	-0.2621	10	0.87932	D	0	-29.7818	19.1501	0.93485	0.0:0.0:1.0:0.0	.	1649	Q4ZG55	GREB1_HUMAN	M	1649;1649;647	ENSP00000370896:V1649M;ENSP00000234142:V1649M;ENSP00000379429:V647M	ENSP00000234142:V1649M	V	+	1	0	GREB1	11690594	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	9.254000	0.95512	2.517000	0.84864	0.557000	0.71058	GTG	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280490.1		+	ENST00000381486.2	Missense_Mutation	SNP	2 : 11773143 - 11773143 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	391	7
GRM4	2914	broad.mit.edu	37	6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:34003851C>T	ENST00000538487.2	-	9	2479	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000544773.2_Missense_Mutation_p.R510H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000609222.1_Missense_Mutation_p.R546H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	NA					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTCGAAGATGCGGTAGATGCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	138	137			NA	NA	6		NA											NA				34003851		2203	4300	6503	SO:0001583	missense			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493	2914	2914		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4596	protein-coding gene	gene with protein product		604100			NA	8738157, 9473604	Standard		NM_000841	NA	Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2036G>A	6.37:g.34003851C>T	ENSP00000440556:p.Arg679His	NA	Q5SZ84	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725414	0.89298	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.993;0.996;0.999;0.999	D	0.96098	0.9067	10	0.87932	D	0	.	17.8595	0.88777	0.0:1.0:0.0:0.0	.	632;510;539;679;546	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	679;563;371;546;510;679;539	ENSP00000363296:R679H;ENSP00000363292:R563H;ENSP00000445533:R371H;ENSP00000437925:R546H;ENSP00000437730:R510H;ENSP00000440556:R679H;ENSP00000398456:R539H	ENSP00000363292:R563H	R	-	2	0	GRM4	34111829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.580000	0.82523	2.539000	0.85634	0.462000	0.41574	CGC	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040213.2		-	ENST00000538487.2	Missense_Mutation	SNP	6 : 34003851 - 34003851 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	522	5
GSE1	23199	broad.mit.edu	37	16	85682180	85682180	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:85682180G>A	ENST00000253458.7	+	3	425	c.249G>A	c.(247-249)tcG>tcA	p.S83S	GSE1_ENST00000393243.1_Silent_p.S10S|GSE1_ENST00000405402.2_5'UTR	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	NA											NA						GCAGCGAGTCGTCCCCCGTGT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4396		0,0,2198	72	75	74		,249	-3.1	1	16		74	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,coding-synonymous	KIAA0182	NM_001134473.1,NM_014615.2	,	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	,	,83/1218	85682180	1,12995	2198	4300	6498	SO:0001819	synonymous_variant			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149	23199	23199			28979	protein-coding gene	gene with protein product	genetic suppressor element 1		KIAA0182, Gse1 coiled-coil protein homolog (mouse)	KIAA0182	NA	8724849, 8786132	Standard	NM_014615	NM_014615	NA	Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.249G>A	16.37:g.85682180G>A		NA		37	CCDS10952.1																																																																																			GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000325527.1		+	ENST00000253458.7	Silent	SNP	16 : 85682180 - 85682180 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	414	19
GUCY2C	2984	broad.mit.edu	37	12	14772183	14772183	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:14772183G>A	ENST00000261170.3	-	24	2973	c.2837C>T	c.(2836-2838)aCg>aTg	p.T946M	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	946	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTGTTGACCGTATCTCCAAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	0,4406		0,0,2203	128	118	122		2837	5.3	0.8	12		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	GUCY2C	NM_004963.3	81	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	946/1074	14772183	1,13005	2203	4300	6503	SO:0001583	missense				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019	2984	2984			4688	protein-coding gene	gene with protein product		601330		GUC2C	NA	8661067	Standard		NM_004963	NA	Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2837C>T	12.37:g.14772183G>A	ENSP00000261170:p.Thr946Met	NA	B2RMY6	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573737	0.86542	0.0	1.16E-4	ENSG00000070019	ENST00000261170	D	0.84442	-1.85	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98376	1.0556	10	0.87932	D	0	.	18.9452	0.92620	0.0:0.0:1.0:0.0	.	946	P25092	GUC2C_HUMAN	M	946	ENSP00000261170:T946M	ENSP00000261170:T946M	T	-	2	0	GUCY2C	14663450	1.000000	0.71417	0.781000	0.31783	0.814000	0.46013	9.784000	0.99039	2.466000	0.83321	0.655000	0.94253	ACG	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400835.1		-	ENST00000261170.3	Missense_Mutation	SNP	12 : 14772183 - 14772183 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	422	5
GUCY2D	3000	broad.mit.edu	37	17	7915536	7915536	+	Silent	SNP	G	G	A	rs63749078		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7915536G>A	ENST00000254854.4	+	9	1974	c.1824G>A	c.(1822-1824)gcG>gcA	p.A608A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	608	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AAGGCCCTGCGGCCCTCTGGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	43	42			NA	NA	17		NA											NA				7915536		2203	4300	6503	SO:0001819	synonymous_variant			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518	3000	3000			4689	protein-coding gene	gene with protein product		600179	cone rod dystrophy 6	CORD6, LCA, GUC2D, GUC1A4	NA	1356371, 12552567	Standard		NM_000180	NA	Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1824G>A	17.37:g.7915536G>A		NA	Q6LEA7	37	CCDS11127.1																																																																																			GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000226973.2		+	ENST00000254854.4	Silent	SNP	17 : 7915536 - 7915536 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	229	8
HIST1H3I	8354	broad.mit.edu	37	6	27839811	27839811	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:27839811C>T	ENST00000328488.2	-	1	288	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	95					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCGCAAGCCTCCTGCAGCGCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	92	90			NA	NA	6		NA											NA				27839811		2203	4300	6503	SO:0001583	missense			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379	8354	8354		Histones / Replication-dependent	4771	protein-coding gene	gene with protein product		602814	H3 histone family, member F, histone 1, H3i	H3FF	NA	9031620, 9439656, 12408966	Standard	NM_003533	NM_003533	NA	Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.283G>A	6.37:g.27839811C>T	ENSP00000329554:p.Glu95Lys	NA	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	37	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104290	0.76983	.	.	ENSG00000182572	ENST00000328488	T	0.70749	-0.51	4.12	4.12	0.48240	.	.	.	.	.	T	0.78220	0.4249	.	.	.	0.45150	D	0.998168	.	.	.	.	.	.	T	0.81304	-0.0993	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	K	95	ENSP00000329554:E95K	ENSP00000329554:E95K	E	-	1	0	HIST1H3I	27947790	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.370000	0.79589	2.580000	0.87095	0.650000	0.86243	GAG	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043452.1		-	ENST00000328488.2	Missense_Mutation	SNP	6 : 27839811 - 27839811 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	580	13
HMX3	340784	broad.mit.edu	37	10	124895877	124895877	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:124895877C>T	ENST00000357878.5	+	1	400	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	104					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CAGAGGTTTGCCCTGCCCGCG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	15	14			NA	NA	10		NA											NA				124895877		1956	4126	6082	SO:0001583	missense				CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620	340784	340784		Homeoboxes / ANTP class : NKL subclass	5019	protein-coding gene	gene with protein product		613380	homeo box (H6 family) 3		NA		Standard	XM_291716	NM_001105574	NA	Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.311C>T	10.37:g.124895877C>T	ENSP00000350549:p.Ala104Val	NA	A8MU06	37	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331198	0.60853	.	.	ENSG00000188620	ENST00000357878	D	0.91843	-2.92	4.01	4.01	0.46588	.	0.196683	0.42821	D	0.000649	D	0.86481	0.5943	N	0.24115	0.695	0.41786	D	0.989841	P	0.47762	0.9	B	0.42282	0.382	D	0.86231	0.1637	10	0.31617	T	0.26	.	15.6906	0.77450	0.0:1.0:0.0:0.0	.	104	A6NHT5	HMX3_HUMAN	V	104	ENSP00000350549:A104V	ENSP00000350549:A104V	A	+	2	0	HMX3	124885867	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.500000	0.53318	1.748000	0.51833	0.460000	0.39030	GCC	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050842.4		+	ENST00000357878.5	Missense_Mutation	SNP	10 : 124895877 - 124895877 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	81	4
ITPR1	3708	broad.mit.edu	37	3	4744532	4744532	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:4744532G>T	ENST00000357086.4	+	36	4876	c.4528G>T	c.(4528-4530)Gtg>Ttg	p.V1510L	ITPR1_ENST00000354582.6_Missense_Mutation_p.V1519L|ITPR1_ENST00000423119.2_Missense_Mutation_p.V1510L|ITPR1_ENST00000443694.2_Missense_Mutation_p.V1504L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1495L|ITPR1_ENST00000302640.8_Missense_Mutation_p.V1504L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1519					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCTGTCTTTGTGCAACTGCT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	3		NA											NA				4744532		1988	4167	6155	SO:0001583	missense			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995	3708	3708		Ion channels / Inositol triphosphate receptors	6180	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 94	147265	spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29	SCA15, SCA16, SCA29	NA	7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_002222	NM_001099952	NA	Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000357086.4:c.4528G>T	3.37:g.4744532G>T	ENSP00000349597:p.Val1510Leu	NA	Q14660|Q99897	37	CCDS46740.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429619	0.83776	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.85542	2.76	0.80722	D	1	B;P	0.35700	0.193;0.516	B;B	0.34652	0.126;0.187	T	0.75408	-0.3328	10	0.28530	T	0.3	.	18.3935	0.90491	0.0:0.0:1.0:0.0	.	1519;1510	Q14643;G5E9P1	ITPR1_HUMAN;.	L	1519;1504;1519;1510;1510;1495;1504	ENSP00000306253:V1504L;ENSP00000346595:V1519L;ENSP00000405934:V1510L;ENSP00000349597:V1510L;ENSP00000397885:V1495L;ENSP00000401671:V1504L	ENSP00000306253:V1504L	V	+	1	0	ITPR1	4719532	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.768000	0.98965	2.320000	0.78422	0.563000	0.77884	GTG	ITPR1-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337979.3		+	ENST00000357086.4	Missense_Mutation	SNP	3 : 4744532 - 4744532 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	166	9
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	388	16
KRT37	8688	broad.mit.edu	37	17	39580491	39580491	+	Silent	SNP	G	G	A	rs146872723	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:39580491G>A	ENST00000225550.3	-	1	284	c.285C>T	c.(283-285)taC>taT	p.Y95Y	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	95	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TGTTTTTGCCGTAGGCCCCAC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		5,4401		0,5,2198	86	72	77		285	-7.4	0	17	dbSNP_134	77	1,8599		0,1,4299	yes	coding-synonymous	KRT37	NM_003770.4		0,6,6497	AA,AG,GG	NA	0.0116,0.1135,0.0461		95/450	39580491	6,13000	2203	4300	6503	SO:0001819	synonymous_variant			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417	8688	8688		-, Intermediate filaments type I, keratins (acidic)	6455	protein-coding gene	gene with protein product		604541	keratin, hair, acidic, 7	KRTHA7	NA	9756910, 16831889	Standard	NM_003770	NM_003770	NA	Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.285C>T	17.37:g.39580491G>A		NA		37	CCDS32653.1																																																																																			KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257714.2		-	ENST00000225550.3	Silent	SNP	17 : 39580491 - 39580491 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	318	6
LATS1	9113	broad.mit.edu	37	6	150001515	150001515	+	Missense_Mutation	SNP	T	T	C	rs67173413		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:150001515T>C	ENST00000543571.1	-	5	2636	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R697G	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	697					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATTTTAGCCCTTTTAAGACGG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	101	98			NA	NA	6		NA											NA				150001515		2202	4300	6502	SO:0001583	missense			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023	9113	9113			6514	protein-coding gene	gene with protein product		603473	LATS (large tumor suppressor, Drosophila) homolog 1, LATS, large tumor suppressor, homolog 1 (Drosophila)		NA	9988268, 15122335	Standard	NM_004690	NM_004690	NA	Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2089A>G	6.37:g.150001515T>C	ENSP00000437550:p.Arg697Gly	NA	Q6PKD0	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909805	0.72983	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.68025	-0.3;-0.3	5.64	5.64	0.86602	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000004	T	0.70029	0.3177	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69595	-0.5103	9	.	.	.	.	16.1449	0.81559	0.0:0.0:0.0:1.0	.	697	O95835	LATS1_HUMAN	G	697	ENSP00000437550:R697G;ENSP00000253339:R697G	.	R	-	1	2	LATS1	150043208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.103000	0.71492	2.269000	0.75478	0.455000	0.32223	AGG	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043923.4		-	ENST00000543571.1	Missense_Mutation	SNP	6 : 150001515 - 150001515 C PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	642	5
MUC16	94025	broad.mit.edu	37	19	9005718	9005718	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:9005718C>T	ENST00000397910.4	-	46	39891	c.39688G>A	c.(39688-39690)Gga>Aga	p.G13230R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13232	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCTACTCCATCCTTCTCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	19		NA											NA				9005718		2036	4177	6213	SO:0001583	missense			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39688G>A	19.37:g.9005718C>T	ENSP00000381008:p.Gly13230Arg	NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.57|11.57	1.678764|1.678764	0.29783|0.29783	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000441155|ENST00000542240	T|.	0.46451|.	0.87|.	3.51|3.51	2.45|2.45	0.29901|0.29901	SEA (1);|.	0.000000|.	0.31472|.	U|.	0.007590|.	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.68593|0.68593	2.085|2.085	.|.	.|.	.|.	D;D|.	0.76494|.	0.971;0.999|.	P;D|.	0.83275|.	0.625;0.996|.	T|T	0.63148|0.63148	-0.6702|-0.6702	9|4	0.87932|.	D|.	0|.	-11.7182|-11.7182	7.3243|7.3243	0.26547|0.26547	0.0:0.8661:0.0:0.1339|0.0:0.8661:0.0:0.1339	.|.	20875;13230|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|I	13230;361|69	ENSP00000381008:G13230R|.	ENSP00000381008:G13230R|.	G|M	-|-	1|3	0|0	MUC16|MUC16	8866718|8866718	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.002000|0.002000	0.02628|0.02628	0.611000|0.611000	0.24268|0.24268	0.742000|0.742000	0.32697|0.32697	0.455000|0.455000	0.32223|0.32223	GGA|ATG	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1		-	ENST00000397910.4	Missense_Mutation	SNP	19 : 9005718 - 9005718 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	222	10
NBPF9	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A	rs558823		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144825409G>A	ENST00000468645.1	+	0	1433				NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000440491.2_Missense_Mutation_p.G454D					neuroblastoma breakpoint family, member 9	NA										NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493		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:0001624	3_prime_UTR_variant				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713	400818	400818		neuroblastoma breakpoint family	31991	protein-coding gene	gene with protein product		613999			NA	16079250	Standard	NM_001037675	NM_001037675	NA	Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000468645.1:c.*1430G>A	1.37:g.144825409G>A		NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA	NBPF9-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	NA	protein_coding	OTTHUMT00000038846.1		+	ENST00000468645.1	3'UTR	SNP	1 : 144825409 - 144825409 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	702	7
NBPF9	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144825416G>T	ENST00000468645.1	+	0	1440				NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000440491.2_Missense_Mutation_p.W456C					neuroblastoma breakpoint family, member 9	NA										NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498		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:0001624	3_prime_UTR_variant				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713	400818	400818		neuroblastoma breakpoint family	31991	protein-coding gene	gene with protein product		613999			NA	16079250	Standard	NM_001037675	NM_001037675	NA	Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000468645.1:c.*1437G>T	1.37:g.144825416G>T		NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG	NBPF9-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	NA	protein_coding	OTTHUMT00000038846.1		+	ENST00000468645.1	3'UTR	SNP	1 : 144825416 - 144825416 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	753	7
NCKAP1L	3071	broad.mit.edu	37	12	54925049	54925049	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:54925049C>T	ENST00000293373.6	+	23	2591	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCCAGAGATGCGGGCCTTGGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	115	112			NA	NA	12		NA											NA				54925049		2203	4300	6503	SO:0001583	missense			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338	3071	3071			4862	protein-coding gene	gene with protein product		141180	hematopoietic protein 1	HEM1	NA	1932118	Standard	NM_005337	NM_005337	NA	Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2512C>T	12.37:g.54925049C>T	ENSP00000293373:p.Arg838Trp	NA	Q52LW0	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860810	0.71834	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.37915	1.17;1.17	4.95	4.03	0.46877	.	0.206001	0.36815	N	0.002381	T	0.54334	0.1852	M	0.72353	2.195	0.53688	D	0.99997	D	0.76494	0.999	D	0.66084	0.941	T	0.58317	-0.7657	10	0.87932	D	0	-15.1396	10.3653	0.44019	0.3572:0.6428:0.0:0.0	.	838	P55160	NCKPL_HUMAN	W	838;788	ENSP00000293373:R838W;ENSP00000445596:R788W	ENSP00000293373:R838W	R	+	1	2	NCKAP1L	53211316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.309000	0.43699	1.394000	0.46624	0.655000	0.94253	CGG	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406195.1		+	ENST00000293373.6	Missense_Mutation	SNP	12 : 54925049 - 54925049 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	714	7
NCKIPSD	51517	broad.mit.edu	37	3	48716527	48716527	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:48716527A>T	ENST00000294129.2	-	10	1779	c.1660T>A	c.(1660-1662)Tgc>Agc	p.C554S	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.C554S|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.C547S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	554	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTTCACGCAGAGGTCCGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	57	56			NA	NA	3		NA											NA				48716527		2203	4300	6503	SO:0001583	missense			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672	51517	51517			15486	protein-coding gene	gene with protein product	dia interacting protein, diaphanous protein interacting protein, SH3 protein interacting with Nck, 90 kDa	606671			NA	10648423, 10619843	Standard	NM_016453	NM_016453	NA	Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1660T>A	3.37:g.48716527A>T	ENSP00000294129:p.Cys554Ser	NA	B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	37	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.504546|4.504546	0.85176|0.85176	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374|ENST00000415281	T;T;T;T|T	0.65549|0.58797	1.04;-0.16;-0.16;1.04|0.31	5.37|5.37	5.37|5.37	0.77165|0.77165	Domain of unknown function DUF2013 (1);|.	0.062767|.	0.64402|.	U|.	0.000005|.	T|T	0.58452|0.58452	0.2123|0.2123	L|L	0.29908|0.29908	0.895|0.895	0.37845|0.37845	D|D	0.929171|0.929171	P;P|.	0.52316|.	0.952;0.94|.	P;P|.	0.50270|.	0.636;0.503|.	T|T	0.67007|0.67007	-0.5779|-0.5779	10|7	0.44086|0.87932	T|D	0.13|0	.|.	15.3635|15.3635	0.74499|0.74499	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	554;547|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	S|Q	554;547;554;10|262	ENSP00000342621:C554S;ENSP00000389059:C547S;ENSP00000294129:C554S;ENSP00000396683:C10S|ENSP00000406442:L262Q	ENSP00000294129:C554S|ENSP00000406442:L262Q	C|L	-|-	1|2	0|0	NCKIPSD|NCKIPSD	48691531|48691531	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.952000|0.952000	0.60782|0.60782	8.804000|8.804000	0.91921|0.91921	2.020000|2.020000	0.59435|0.59435	0.528000|0.528000	0.53228|0.53228	TGC|CTG	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257520.1		-	ENST00000294129.2	Missense_Mutation	SNP	3 : 48716527 - 48716527 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	232	12
NFATC4	4776	broad.mit.edu	37	14	24842975	24842975	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:24842975G>A	ENST00000413692.2	+	6	1967	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	NFATC4_ENST00000554591.1_Missense_Mutation_p.R608H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R577H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R558H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R533H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R558H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R533H|NFATC4_ENST00000555167.1_Missense_Mutation_p.R80H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R475H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R475H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R545H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R577H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R545H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R558H|NFATC4_ENST00000554473.1_Missense_Mutation_p.R80H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R577H|NFATC4_ENST00000556759.1_Missense_Mutation_p.R80H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R533H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R545H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	545	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R545H(1)|p.R608H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GACATCGGGCGCAAAAACACA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											98	94	95			NA	NA	14		NA											NA				24842975		2203	4300	6503	SO:0001583	missense			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968	4776	4776		Nuclear factor of activated T-cells	7778	protein-coding gene	gene with protein product		602699			NA	7749981	Standard	NM_004554	NM_004554	NA	Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000413692.2:c.1823G>A	14.37:g.24842975G>A	ENSP00000388910:p.Arg608His	NA	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	37	CCDS45089.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453251	0.96223	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	4.88	4.88	0.63580	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	M	0.83852	2.665	0.80722	D	1	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;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.995;0.995;0.999;0.997;0.999;0.999;0.998;0.998;0.998;0.996;0.999;0.999;0.999;0.999;0.999	D	0.93493	0.6837	10	0.87932	D	0	-5.9017	15.5774	0.76404	0.0:0.0:1.0:0.0	.	533;533;577;577;558;558;558;608;608;533;475;577;522;608;545	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	608;608;558;558;558;577;577;577;545;545;545;475;475;475;533;475;533;533;80;80;80	ENSP00000388910:R608H;ENSP00000452039:R608H;ENSP00000451224:R558H;ENSP00000450644:R558H;ENSP00000388668:R558H;ENSP00000439350:R577H;ENSP00000452270:R577H;ENSP00000451502:R577H;ENSP00000451151:R545H;ENSP00000250373:R545H;ENSP00000450590:R545H;ENSP00000452349:R475H;ENSP00000450469:R475H;ENSP00000450733:R475H;ENSP00000451454:R533H;ENSP00000451284:R475H;ENSP00000396788:R533H;ENSP00000450686:R533H;ENSP00000450810:R80H;ENSP00000451183:R80H;ENSP00000451395:R80H	ENSP00000250373:R545H	R	+	2	0	NFATC4	23912815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.652000	0.98499	2.515000	0.84797	0.655000	0.94253	CGC	NFATC4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414125.2		+	ENST00000413692.2	Missense_Mutation	SNP	14 : 24842975 - 24842975 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	411	5
OR14K1	343170	broad.mit.edu	37	1	247902703	247902703	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:247902703G>C	ENST00000283225.2	+	1	787	c.787G>C	c.(787-789)Gat>Cat	p.D263H	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1	NA										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GCCAGGGTCTGATGCACCTTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	128	131			NA	NA	1		NA											NA				247902703		2022	4181	6203	SO:0001583	missense			BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230	343170	343170		GPCR / Class A : Olfactory receptors	15025	protein-coding gene	gene with protein product			olfactory receptor, family 5, subfamily AY, member 1	OR5AY1	NA		Standard	NM_001004732	NG_007559	NA	Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.787G>C	1.37:g.247902703G>C	ENSP00000283225:p.Asp263His	NA		37		.	.	.	.	.	.	.	.	.	.	G	10.28	1.307894	0.23821	.	.	ENSG00000153230	ENST00000283225	T	0.00099	8.73	3.9	-1.38	0.09027	.	0.674572	0.11751	U	0.533076	T	0.00144	0.0004	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14476	-1.0471	7	0.41790	T	0.15	.	9.3862	0.38345	0.668:0.0:0.332:0.0	.	.	.	.	H	263	ENSP00000283225:D263H	ENSP00000283225:D263H	D	+	1	0	OR14K1	245969326	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.015000	0.12634	-0.199000	0.10317	0.609000	0.83330	GAT	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000096868.1		+	ENST00000283225.2	Missense_Mutation	SNP	1 : 247902703 - 247902703 C PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	214	5
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													252	239	243			NA	NA	9		NA											NA				125316158		2203	4300	6503	SO:0001583	missense				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501	138882	138882		GPCR / Class A : Olfactory receptors	15111	protein-coding gene	gene with protein product					NA		Standard		NM_001004457	NA	Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.710G>A	9.37:g.125316158G>A	ENSP00000362792:p.Arg237His	NA	A3KFM2|B2RNY4|Q6IF17|Q96RA3	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577288	0.03854	.	.	ENSG00000171501	ENST00000373688	T	0.00107	8.72	4.56	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	0.976894	0.08366	N	0.956924	T	0.00109	0.0003	N	0.17594	0.5	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.01225	-1.1413	10	0.28530	T	0.3	.	4.6663	0.12668	0.5603:0.0:0.2724:0.1672	.	237	Q8NGR9	OR1N2_HUMAN	H	237	ENSP00000362792:R237H	ENSP00000362792:R237H	R	+	2	0	OR1N2	124355979	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-2.545000	0.00933	-0.028000	0.13850	0.644000	0.83932	CGC	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053937.2		+	ENST00000373688.2	Missense_Mutation	SNP	9 : 125316158 - 125316158 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	645	7
OR52W1	120787	broad.mit.edu	37	11	6221254	6221254	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:6221254C>A	ENST00000311352.2	+	1	879	c.801C>A	c.(799-801)caC>caA	p.H267Q		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTCACACACCGCTTTGGTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													456	417	430			NA	NA	11		NA											NA				6221254		2201	4296	6497	SO:0001583	missense			AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485	120787	120787		GPCR / Class A : Olfactory receptors	15239	protein-coding gene	gene with protein product				OR52W1P	NA		Standard	NM_001005178	NM_001005178	NA	Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.801C>A	11.37:g.6221254C>A	ENSP00000309673:p.His267Gln	NA	Q8NH78	37	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858617	0.17178	.	.	ENSG00000175485	ENST00000311352	T	0.00084	8.75	5.11	-5.48	0.02592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001210	T	0.00073	0.0002	L	0.35249	1.045	0.21220	N	0.99975	B	0.29612	0.251	B	0.27076	0.076	T	0.47156	-0.9139	10	0.66056	D	0.02	.	5.0242	0.14376	0.0925:0.3018:0.0912:0.5146	.	267	Q6IF63	O52W1_HUMAN	Q	267	ENSP00000309673:H267Q	ENSP00000309673:H267Q	H	+	3	2	OR52W1	6177830	0.001000	0.12720	0.795000	0.32087	0.080000	0.17528	-0.139000	0.10358	-0.942000	0.03695	-1.012000	0.02466	CAC	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383758.1		+	ENST00000311352.2	Missense_Mutation	SNP	11 : 6221254 - 6221254 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	1433	10
PANK3	79646	broad.mit.edu	37	5	167995848	167995848	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:167995848C>T	ENST00000239231.6	-	2	500	c.184G>A	c.(184-186)Ggc>Agc	p.G62S		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	62					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TCCCGAATGCCGGTGGATCCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	138	140			NA	NA	5		NA											NA				167995848		2203	4300	6503	SO:0001583	missense			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137	79646	79646			19365	protein-coding gene	gene with protein product		606161			NA	11479594	Standard	NM_024594	NM_024594	NA	Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.184G>A	5.37:g.167995848C>T	ENSP00000239231:p.Gly62Ser	NA	D3DQL1|Q53FJ9|Q7RTX4	37	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205975	0.95033	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.98419	-4.92;-4.92	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.46703	T	0.11	-14.8448	19.0666	0.93114	0.0:1.0:0.0:0.0	.	62	Q9H999	PANK3_HUMAN	S	62;47	ENSP00000239231:G62S;ENSP00000428631:G47S	ENSP00000239231:G62S	G	-	1	0	PANK3	167928426	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GGC	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252793.2		-	ENST00000239231.6	Missense_Mutation	SNP	5 : 167995848 - 167995848 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	686	41
PCDHGA10	56106	broad.mit.edu	37	5	140793016	140793016	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:140793016G>A	ENST00000398610.2	+	1	274	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			protocadherin gamma subfamily A, 10	NA										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCACCGCGGGCAGGATAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	76	71			NA	NA	5		NA											NA				140793016		2144	4281	6425	SO:0001583	missense				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846	56106	56106		Cadherins / Protocadherins : Clustered	8697	other	protocadherin		606297			NA	10380929	Standard	NM_018913	NM_018913	NA	Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.274G>A	5.37:g.140793016G>A	ENSP00000381611:p.Gly92Ser	NA		37	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	17.15	3.315265	0.60524	.	.	ENSG00000253846	ENST00000398610	T	0.26660	1.72	5.89	5.89	0.94794	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30230	0.0758	L	0.49350	1.555	0.37881	D	0.930382	B;B	0.26876	0.162;0.056	B;B	0.30401	0.115;0.082	T	0.07520	-1.0768	9	0.27785	T	0.31	.	19.8631	0.96790	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	S	92	ENSP00000381611:G92S	ENSP00000381611:G92S	G	+	1	0	PCDHGA10	140773200	0.991000	0.36638	1.000000	0.80357	0.836000	0.47400	4.921000	0.63397	2.788000	0.95919	0.557000	0.71058	GGC	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374747.1		+	ENST00000398610.2	Missense_Mutation	SNP	5 : 140793016 - 140793016 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	614	13
PHF2	5253	broad.mit.edu	37	9	96418827	96418827	+	Missense_Mutation	SNP	T	T	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:96418827T>A	ENST00000359246.4	+	9	1464	c.1097T>A	c.(1096-1098)tTt>tAt	p.F366Y	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	366					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TTTCCCAACTTTGAAACTGCG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	142	139			NA	NA	9		NA											NA				96418827		2203	4300	6503	SO:0001583	missense			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724	5253	5253		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	8920	protein-coding gene	gene with protein product	jumonji C domain-containing histone demethylase 1E, centromere protein 35	604351			NA	10051327, 20129925	Standard	NM_005392	NM_005392	NA	Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1097T>A	9.37:g.96418827T>A	ENSP00000352185:p.Phe366Tyr	NA	Q4VXG0|Q8N3K2|Q9Y6N4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036665	0.54896	.	.	ENSG00000197724	ENST00000359246	T	0.57107	0.42	4.47	4.47	0.54385	.	0.049864	0.85682	D	0.000000	T	0.42040	0.1185	L	0.37466	1.105	0.80722	D	1	B	0.21309	0.054	B	0.18263	0.021	T	0.41142	-0.9525	10	0.66056	D	0.02	-15.2641	10.4792	0.44682	0.145:0.0:0.0:0.855	.	366	O75151	PHF2_HUMAN	Y	366	ENSP00000352185:F366Y	ENSP00000352185:F366Y	F	+	2	0	PHF2	95458648	1.000000	0.71417	0.994000	0.49952	0.839000	0.47603	4.898000	0.63238	1.864000	0.54056	0.254000	0.18369	TTT	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053162.1		+	ENST00000359246.4	Missense_Mutation	SNP	9 : 96418827 - 96418827 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	201	7
PLEKHG2	64857	broad.mit.edu	37	19	39907611	39907611	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:39907611C>T	ENST00000409794.3	+	7	1565	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R239C|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R180C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	239	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTGTCCAGCGCATTCTCAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	30			NA	NA	19		NA											NA				39907611		2199	4298	6497	SO:0001583	missense			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924	64857	64857		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	29515	protein-coding gene	gene with protein product		611893			NA	11839748, 18045877	Standard	NM_022835	NM_022835	NA	Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.715C>T	19.37:g.39907611C>T	ENSP00000386733:p.Arg239Cys	NA	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230956	0.79688	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	4.8	4.8	0.61643	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000003	D	0.96426	0.8834	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.981;0.91;0.994;0.997	D	0.97972	1.0344	10	0.87932	D	0	.	17.1606	0.86802	0.0:1.0:0.0:0.0	.	239;239;180;239	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.;PKHG2_HUMAN;.;.	C	239;239;239;180;239	ENSP00000386733:R239C;ENSP00000392906:R239C;ENSP00000367812:R239C;ENSP00000408857:R180C;ENSP00000386492:R239C	ENSP00000367812:R239C	R	+	1	0	PLEKHG2	44599451	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.587000	0.36622	2.670000	0.90874	0.407000	0.27541	CGC	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326802.1		+	ENST00000409794.3	Missense_Mutation	SNP	19 : 39907611 - 39907611 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	287	7
PLXNB2	23654	broad.mit.edu	37	22	50720348	50720348	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50720348C>A	ENST00000449103.1	-	20	3420	c.3280G>T	c.(3280-3282)Gac>Tac	p.D1094Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1094Y			O15031	PLXB2_HUMAN	plexin B2	1094					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGGTGGGGTCAGGCACGTAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	56	54			NA	NA	22		NA											NA				50720348		2045	4174	6219	SO:0001583	missense				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576	23654	23654		Plexins	9104	protein-coding gene	gene with protein product		604293			NA	10520995, 12183458	Standard	NM_012401	NM_012401	NA	Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3280G>T	22.37:g.50720348C>A	ENSP00000409171:p.Asp1094Tyr	NA	A6QRH0|Q7KZU3|Q9BSU7	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508777	0.44660	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.63744	-0.06;-0.06	4.63	4.63	0.57726	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.257954	0.27554	N	0.018860	T	0.77579	0.4151	M	0.72353	2.195	0.58432	D	0.999993	D	0.76494	0.999	D	0.65443	0.935	T	0.80991	-0.1135	10	0.87932	D	0	.	17.6605	0.88192	0.0:1.0:0.0:0.0	.	1094	O15031	PLXB2_HUMAN	Y	1094	ENSP00000409171:D1094Y;ENSP00000352288:D1094Y	ENSP00000352288:D1094Y	D	-	1	0	PLXNB2	49062475	0.989000	0.36119	0.992000	0.48379	0.767000	0.43475	2.830000	0.48136	2.410000	0.81850	0.313000	0.20887	GAC	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316874.3		-	ENST00000449103.1	Missense_Mutation	SNP	22 : 50720348 - 50720348 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	290	13
RALGAPA2	57186	broad.mit.edu	37	20	20493737	20493737	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr20:20493737G>C	ENST00000202677.7	-	32	4283	c.4276C>G	c.(4276-4278)Ctg>Gtg	p.L1426V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	NA					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACAGCTGCAGGTTTGGACTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	20		NA											NA				20493737		1935	4138	6073	SO:0001583	missense			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559	57186	57186			16207	protein-coding gene	gene with protein product			chromosome 20 open reading frame 74	C20orf74	NA	16490346, 19520869	Standard	NM_020343	NM_020343	NA	Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4276C>G	20.37:g.20493737G>C	ENSP00000202677:p.Leu1426Val	NA	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232569	0.22626	.	.	ENSG00000188559	ENST00000202677	D	0.95518	-3.73	5.62	1.44	0.22558	.	0.000000	0.64402	D	0.000003	D	0.95831	0.8643	L	0.57536	1.79	0.39079	D	0.960872	B;D;B	0.76494	0.119;0.999;0.34	B;D;B	0.87578	0.074;0.998;0.241	D	0.93616	0.6943	9	.	.	.	.	6.8563	0.24042	0.2006:0.0:0.6743:0.1251	.	1264;1426;1426	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	V	1426	ENSP00000202677:L1426V	.	L	-	1	2	RALGAPA2	20441737	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.455000	0.35190	0.394000	0.25230	0.591000	0.81541	CTG	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000471941.1		-	ENST00000202677.7	Missense_Mutation	SNP	20 : 20493737 - 20493737 C PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	170	6
RBFOX1	54715	broad.mit.edu	37	16	7714957	7714957	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:7714957G>C	ENST00000552089.1	+	11	1082	c.968G>C	c.(967-969)gGt>gCt	p.G323A	RBFOX1_ENST00000547372.1_Missense_Mutation_p.G349A|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G349A|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G279A|RBFOX1_ENST00000340209.4_Missense_Mutation_p.G311A|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G263A|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G306A			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	306					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGATTTTATGGTGCAGACATT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(157;934 2567 15163 39509)							NA				0													374	355	361			NA	NA	16		NA											NA				7714957		1963	4168	6131	SO:0001583	missense			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328	54715	54715		RNA binding motif (RRM) containing	18222	protein-coding gene	gene with protein product	ataxin 2-binding protein 1, hexaribonucleotide binding protein 1	605104			NA	10814712, 16260614	Standard	NM_145891	NM_018723	NA	Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000552089.1:c.968G>C	16.37:g.7714957G>C	ENSP00000448496:p.Gly323Ala	NA	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	37		.	.	.	.	.	.	.	.	.	.	G	24.2	4.508204	0.85282	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000340209	T;T;T;T;T;T	0.54071	0.6;1.36;0.81;1.09;0.6;0.59	5.75	5.75	0.90469	.	.	.	.	.	T	0.71213	0.3313	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.996	D;D;D;D	0.80764	0.994;0.974;0.956;0.974	T	0.64449	-0.6405	9	0.23891	T	0.37	.	19.9889	0.97359	0.0:0.0:1.0:0.0	.	263;349;279;306	F5H0M1;B7Z1U7;Q9NWB1-3;Q9NWB1	.;.;.;RFOX1_HUMAN	A	306;279;349;349;263;323;306;311	ENSP00000450031:G306A;ENSP00000447753:G279A;ENSP00000446842:G349A;ENSP00000391269:G349A;ENSP00000447717:G306A;ENSP00000344196:G311A	ENSP00000344196:G311A	G	+	2	0	RBFOX1	7654958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.598000	0.90852	2.727000	0.93392	0.650000	0.86243	GGT	RBFOX1-006	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409496.1		+	ENST00000552089.1	Missense_Mutation	SNP	16 : 7714957 - 7714957 C PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	657	20
RELA	5970	broad.mit.edu	37	11	65421892	65421892	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:65421892G>A	ENST00000406246.3	-	11	1874	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	RELA_ENST00000308639.9_Missense_Mutation_p.A535V|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	538					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTCCATGTCCGCAATGGAGGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA	0,4402		0,0,2201	30	31	31		1604,1613	-0.4	0.9	11		31	1,8593	1.2+/-3.3	0,1,4296	yes	missense,missense	RELA	NM_001145138.1,NM_021975.3	64,64	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	535/549,538/552	65421892	1,12995	2201	4297	6498	SO:0001583	missense			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039	5970	5970			9955	protein-coding gene	gene with protein product		164014	nuclear factor of kappa light polypeptide gene enhancer in B-cells 3	NFKB3	NA	2001591	Standard	NM_021975	NM_021975	NA	Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1613C>T	11.37:g.65421892G>A	ENSP00000384273:p.Ala538Val	NA	Q6GTV1|Q6SLK1	37	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983831	0.35036	0.0	1.16E-4	ENSG00000173039	ENST00000406246;ENST00000308639	T;T	0.46819	0.86;0.86	4.05	-0.358	0.12575	.	0.871453	0.09819	N	0.751740	T	0.28366	0.0701	N	0.24115	0.695	0.19775	N	0.999957	B;B;B;B	0.12013	0.001;0.001;0.003;0.005	B;B;B;B	0.09377	0.001;0.001;0.004;0.002	T	0.19877	-1.0292	10	0.42905	T	0.14	-6.3589	3.7588	0.08596	0.3469:0.2045:0.4486:0.0	.	528;524;535;538	Q04206-3;Q04206-2;Q04206-4;Q04206	.;.;.;TF65_HUMAN	V	538;535	ENSP00000384273:A538V;ENSP00000311508:A535V	ENSP00000311508:A535V	A	-	2	0	RELA	65178468	0.304000	0.24472	0.883000	0.34634	0.993000	0.82548	1.272000	0.33109	0.072000	0.16694	-0.291000	0.09656	GCG	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390457.2		-	ENST00000406246.3	Missense_Mutation	SNP	11 : 65421892 - 65421892 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	170	4
REPS2	9185	broad.mit.edu	37	X	17153512	17153512	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:17153512G>A	ENST00000357277.3	+	16	1962	c.1791G>A	c.(1789-1791)ccG>ccA	p.P597P	REPS2_ENST00000303843.7_Silent_p.P596P|REPS2_ENST00000380064.4_Silent_p.P396P|REPS2_ENST00000469714.1_3'UTR	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	597	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CCATGAAACCGCATCCAACAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	134	136			NA	NA	X		NA											NA				17153512		2203	4299	6502	SO:0001819	synonymous_variant			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891	9185	9185		EF-hand domain containing	9963	protein-coding gene	gene with protein product		300317			NA	9422736, 9928989	Standard	NM_004726	NM_001080975	NA	Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1791G>A	X.37:g.17153512G>A		NA	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	37	CCDS14180.2																																																																																			REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316778.1		+	ENST00000357277.3	Silent	SNP	X : 17153512 - 17153512 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	656	6
RNF13	11342	broad.mit.edu	37	3	149570341	149570341	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:149570341C>T	ENST00000344229.3	+	4	855	c.153C>T	c.(151-153)ctC>ctT	p.L51L	RNF13_ENST00000392894.3_Silent_p.L51L	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	51					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGATGACCTCCCTGCAAGAT	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	62			NA	NA	3		NA											NA				149570341		2203	4295	6498	SO:0001819	synonymous_variant			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996	11342	11342		RING-type (C3HC4) zinc fingers	10057	protein-coding gene	gene with protein product		609247			NA		Standard	NM_183384	NM_183381	NA	Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.153C>T	3.37:g.149570341C>T		NA	Q6IBJ9	37	CCDS3146.1																																																																																			RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356876.1		+	ENST00000344229.3	Silent	SNP	3 : 149570341 - 149570341 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	257	14
RNF19A	25897	broad.mit.edu	37	8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	138					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTAGAATGCCGCAAAAGGCAC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	107			NA	NA	8		NA											NA				101299991		2203	4300	6503	SO:0001583	missense			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677	25897	25897		RING-type (C3HC4) zinc fingers	13432	protein-coding gene	gene with protein product		607119	ring finger protein 19, ring finger protein 19A, ring finger protein 19A, E3 ubiquitin protein ligase	RNF19	NA	11237715, 10976766	Standard	NM_015435	NM_183419	NA	Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.412C>T	8.37:g.101299991G>A	ENSP00000428968:p.Arg138Trp	NA	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139684	0.77775	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.84146	-1.81;-1.81	5.57	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.056803	0.64402	D	0.000001	D	0.88123	0.6352	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	P	0.53490	0.727	D	0.87527	0.2450	10	0.66056	D	0.02	.	10.4328	0.44417	0.07:0.0:0.7955:0.1345	.	138	Q9NV58	RN19A_HUMAN	W	138	ENSP00000428968:R138W;ENSP00000342667:R138W	ENSP00000342667:R138W	R	-	1	2	RNF19A	101369167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.654000	0.67974	0.707000	0.31934	-0.142000	0.14014	CGG	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380004.1		-	ENST00000519449.1	Missense_Mutation	SNP	8 : 101299991 - 101299991 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	651	6
RPL26L1	51121	broad.mit.edu	37	5	172386920	172386920	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:172386920G>T	ENST00000521476.1	+	2	168	c.44G>T	c.(43-45)cGc>cTc	p.R15L	RPL26L1_ENST00000519239.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R15L|RPL26L1_ENST00000519974.1_Missense_Mutation_p.R15L			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTAAAAACCGCAAACGTCAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													221	190	200			NA	NA	5		NA											NA				172386920		2203	4300	6503	SO:0001583	missense			AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241	51121	51121		L ribosomal proteins	17050	protein-coding gene	gene with protein product			ribosomal protein L26 pseudogene 1	RPL26P1	NA	11042152	Standard	NM_016093	NM_016093	NA	Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.44G>T	5.37:g.172386920G>T	ENSP00000428223:p.Arg15Leu	NA	B3KY82|D3DQM0	37	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634145	0.96682	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519522;ENST00000519156	.	.	.	4.75	3.85	0.44370	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	H	0.94462	3.54	0.80722	D	1	P	0.48694	0.914	P	0.58721	0.844	D	0.88380	0.3001	9	0.87932	D	0	.	13.8993	0.63792	0.0:0.0:0.8418:0.1582	.	15	Q9UNX3	RL26L_HUMAN	L	15	.	ENSP00000265100:R15L	R	+	2	0	RPL26L1	172319526	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.313000	0.78978	1.168000	0.42723	0.549000	0.68633	CGC	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372559.1		+	ENST00000521476.1	Missense_Mutation	SNP	5 : 172386920 - 172386920 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	879	14
RYR2	6262	broad.mit.edu	37	1	237969517	237969517	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:237969517C>T	ENST00000366574.2	+	99	14549	c.14232C>T	c.(14230-14232)ctC>ctT	p.L4744L	RYR2_ENST00000542537.1_Silent_p.L4728L|RYR2_ENST00000360064.6_Silent_p.L4750L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4744					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCACCTTCTCGACATTGCTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	179	186			NA	NA	1		NA											NA				237969517		1894	4112	6006	SO:0001819	synonymous_variant			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14232C>T	1.37:g.237969517C>T		NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1																																																																																			RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Silent	SNP	1 : 237969517 - 237969517 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	254	7
SEMA4F	10505	broad.mit.edu	37	2	74902760	74902760	+	Splice_Site	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:74902760A>T	ENST00000357877.2	+	11	1630	c.1481A>T	c.(1480-1482)cAc>cTc	p.H494L	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Splice_Site_p.H339L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	494	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAATTGTACCACGTGAGTTGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	86	90			NA	NA	2		NA											NA				74902760		2203	4300	6503	SO:0001630	splice_region_variant			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622	10505	10505		Semaphorins	10734	protein-coding gene	gene with protein product	m-Sema M	603706		SEMAM	NA	10051670	Standard	NM_004263	NM_004263	NA	Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1482+1A>T	2.37:g.74902760A>T		NA	Q542Y7|Q9NS35	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364109	0.24684	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.27890	1.64;1.64	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.533387	0.17354	N	0.177292	T	0.27866	0.0686	L	0.42245	1.32	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.08806	-1.0704	10	0.72032	D	0.01	.	11.8227	0.52247	1.0:0.0:0.0:0.0	.	339;494	O95754-2;O95754	.;SEM4F_HUMAN	L	494;339	ENSP00000350547:H494L;ENSP00000342675:H339L	ENSP00000342675:H339L	H	+	2	0	SEMA4F	74756268	0.008000	0.16893	0.607000	0.28956	0.563000	0.35712	1.556000	0.36288	1.892000	0.54788	0.383000	0.25322	CAC	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252214.2	Missense_Mutation	+	ENST00000357877.2	Splice_Site	SNP	2 : 74902760 - 74902760 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	257	8
SLC5A12	159963	broad.mit.edu	37	11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	198					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGAGAACCGTTAAGAAGCC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													235	215	222			NA	NA	11		NA											NA				26725427		2203	4299	6502	SO:0001583	missense			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942	159963	159963		Solute carriers	28750	protein-coding gene	gene with protein product		612455	solute carrier family 5 (sodium/glucose cotransporter), member 12		NA	12477932	Standard	NM_178498	NM_178498	NA	Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.593C>T	11.37:g.26725427G>A	ENSP00000379326:p.Thr198Met	NA	Q86UC7	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161956	0.78226	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88046	-2.33;-2.33;-2.33	5.16	5.16	0.70880	.	0.058040	0.64402	D	0.000003	D	0.91212	0.7231	L	0.46670	1.46	0.39532	D	0.968674	D;D	0.69078	0.978;0.997	P;D	0.67725	0.707;0.953	D	0.92534	0.6036	10	0.72032	D	0.01	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	198;198	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	198;198;10	ENSP00000379326:T198M;ENSP00000280467:T198M;ENSP00000435053:T10M	ENSP00000280467:T198M	T	-	2	0	SLC5A12	26682003	1.000000	0.71417	0.936000	0.37596	0.978000	0.69477	7.957000	0.87870	2.412000	0.81896	0.484000	0.47621	ACG	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319681.1		-	ENST00000396005.3	Missense_Mutation	SNP	11 : 26725427 - 26725427 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	801	9
SLC8A3	6547	broad.mit.edu	37	14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	166	166			NA	NA	14		NA											NA				70633740		2203	4300	6503	SO:0001583	missense			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678	6547	6547		Solute carriers	11070	protein-coding gene	gene with protein product		607991			NA	8798769	Standard		XM_005268017	NA	Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1400G>A	14.37:g.70633740C>T	ENSP00000370669:p.Gly467Asp	NA	Q8IUE9|Q8IUF0|Q8NFI7	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002330	0.35320	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.53	5.53	0.82687	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.35593	1.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.15492	-1.0435	10	0.25106	T	0.35	.	19.463	0.94927	0.0:1.0:0.0:0.0	.	467;467;467;467	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	D	467	ENSP00000349392:G467D;ENSP00000370669:G467D;ENSP00000350560:G467D;ENSP00000436688:G467D;ENSP00000433531:G467D	ENSP00000349392:G467D	G	-	2	0	SLC8A3	69703493	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	4.980000	0.63812	2.587000	0.87381	0.643000	0.83706	GGC	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390736.1		-	ENST00000381269.2	Missense_Mutation	SNP	14 : 70633740 - 70633740 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	818	6
SMG1	23049	broad.mit.edu	37	16	18896965	18896965	+	Silent	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:18896965A>T	ENST00000446231.2	-	7	1258	c.846T>A	c.(844-846)tcT>tcA	p.S282S	SMG1_ENST00000389467.3_Silent_p.S282S|SMG1_ENST00000565224.1_Silent_p.S256S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	282	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTCAAGAATAGACTGCAGGC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	99	98			NA	NA	16		NA											NA				18896965		985	2082	3067	SO:0001819	synonymous_variant			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106	23049	23049			30045	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase-related kinase	607032	smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)		NA	9455477, 11331269, 17229728	Standard	NM_015092	NM_015092	NA	Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.846T>A	16.37:g.18896965A>T		NA	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	37	CCDS45430.1																																																																																			SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391817.1		-	ENST00000446231.2	Silent	SNP	16 : 18896965 - 18896965 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	368	5
SMURF2	64750	broad.mit.edu	37	17	62558963	62558963	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:62558963G>A	ENST00000262435.9	-	11	1325	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	380					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGTTCTTGCCGCAAAATTTTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	105	110			NA	NA	17		NA											NA				62558963		2203	4300	6503	SO:0001583	missense			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854	64750	64750			16809	protein-coding gene	gene with protein product		605532			NA	11016919	Standard	NM_022739	XM_005257585	NA	Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1138C>T	17.37:g.62558963G>A	ENSP00000262435:p.Arg380Trp	NA	Q52LL1|Q9H260	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858041	0.32791	.	.	ENSG00000108854	ENST00000262435	T	0.44482	0.92	5.82	4.81	0.61882	HECT (1);	0.105160	0.64402	D	0.000007	T	0.69424	0.3109	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75351	-0.3348	10	0.87932	D	0	.	15.0272	0.71680	0.0:0.0:0.6852:0.3148	.	380	Q9HAU4	SMUF2_HUMAN	W	380	ENSP00000262435:R380W	ENSP00000262435:R380W	R	-	1	2	SMURF2	59989425	0.911000	0.30947	1.000000	0.80357	0.954000	0.61252	1.372000	0.34261	2.758000	0.94735	0.650000	0.86243	CGG	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445227.1		-	ENST00000262435.9	Missense_Mutation	SNP	17 : 62558963 - 62558963 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	363	6
SPDYC	387778	broad.mit.edu	37	11	64940200	64940200	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:64940200C>T	ENST00000377185.2	+	6	644	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	188	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TCGGGACCGGCGCCCCCACCA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	11		NA											NA				64940200		2201	4297	6498	SO:0001583	missense			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710	387778	387778		Speedy homologs	32681	protein-coding gene	gene with protein product		614030	speedy homolog C (Xenopus laevis)		NA	15611625	Standard	NM_001008778	NM_001008778	NA	Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.562C>T	11.37:g.64940200C>T	ENSP00000366390:p.Arg188Cys	NA	B2RP32|B7ZMH7	37	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811405	0.50527	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.26	-2.55	0.06288	.	0.698349	0.11252	N	0.583506	T	0.24470	0.0593	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.12502	-1.0545	9	0.44086	T	0.13	.	5.5899	0.17295	0.1263:0.4212:0.0:0.4525	.	188	Q5MJ68	SPDYC_HUMAN	C	188	.	ENSP00000366390:R188C	R	+	1	0	SPDYC	64696776	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	-0.010000	0.12743	-0.920000	0.03799	-0.136000	0.14681	CGC	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385299.1		+	ENST00000377185.2	Missense_Mutation	SNP	11 : 64940200 - 64940200 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	284	7
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7296183	7296183	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7296183G>A	ENST00000576362.1	-	5	681	c.524C>T	c.(523-525)gCc>gTc	p.A175V	TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.A199V					TMEM256-PLSCR3 readthrough (NMD candidate)	199											NA						CTGGCGATCGGCATCCTGGAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	236	229			NA	NA	17		NA											NA				7296183		2089	4206	6295	SO:0001583	missense					17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838	100529211	100529211			49186	other	readthrough					NA		Standard		NR_037719	NA	Approved				OTTHUMG00000178150	ENST00000576362.1:c.524C>T	17.37:g.7296183G>A	ENSP00000460800:p.Ala175Val	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.793830|4.793830	0.90453|0.90453	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000535512;ENST00000324822|ENST00000380658	T;T|.	0.32023|.	1.47;1.47|.	5.69|5.69	4.72|4.72	0.59763|0.59763	.|.	0.193957|.	0.44285|.	N|.	0.000472|.	T|T	0.56688|0.56688	0.2002|0.2002	L|L	0.45422|0.45422	1.42|1.42	0.41806|0.41806	D|D	0.98994|0.98994	P;P|.	0.39094|.	0.659;0.476|.	B;B|.	0.42882|.	0.401;0.223|.	T|T	0.60403|0.60403	-0.7270|-0.7270	10|6	0.34782|0.87932	T|D	0.22|0	-8.8642|-8.8642	7.3178|7.3178	0.26511|0.26511	0.0852:0.0:0.7473:0.1674|0.0852:0.0:0.7473:0.1674	.|.	199;254|.	Q9NRY6;D3DTP7|.	PLS3_HUMAN;.|.	V|S	199|199	ENSP00000438547:A199V;ENSP00000316021:A199V|.	ENSP00000316021:A199V|ENSP00000370033:P199S	A|P	-|-	2|1	0|0	PLSCR3|PLSCR3	7236907|7236907	0.974000|0.974000	0.33945|0.33945	0.842000|0.842000	0.33263|0.33263	0.991000|0.991000	0.79684|0.79684	3.347000|3.347000	0.52200|0.52200	1.405000|1.405000	0.46838|0.46838	0.591000|0.591000	0.81541|0.81541	GCC|CCG	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000440808.1		-	ENST00000576362.1	Missense_Mutation	SNP	17 : 7296183 - 7296183 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	970	6
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)											50	52	51			NA	NA	17		NA											NA				7578461		2202	4300	6502	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.469G>T	17.37:g.7578461C>A	ENSP00000391127:p.Val157Phe	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578461 - 7578461 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	278	6
TRIP12	9320	broad.mit.edu	37	2	230643255	230643255	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:230643255G>A	ENST00000389045.3	-	33	4295	c.4223C>T	c.(4222-4224)gCg>gTg	p.A1408V	TRIP12_ENST00000283943.5_Missense_Mutation_p.A1678V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1726V			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1678					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAAGGGAAGCGCAAACAGGCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4406		0,0,2203	128	126	127		5033	4.2	0.9	2		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIP12	NM_004238.1	64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	1678/1993	230643255	1,13005	2203	4300	6503	SO:0001583	missense			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827	9320	9320			12306	protein-coding gene	gene with protein product		604506			NA	7776974	Standard	NM_004238	XM_005246961	NA	Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000389045.3:c.4223C>T	2.37:g.230643255G>A	ENSP00000373697:p.Ala1408Val	NA	Q15644	37		.	.	.	.	.	.	.	.	.	.	G	26.6	4.749186	0.89753	0.0	1.16E-4	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.57595	0.39;0.39;0.39	5.94	4.15	0.48705	HECT (4);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.28400	0.85	0.80722	D	1	B;B;B	0.16603	0.018;0.007;0.007	B;B;B	0.12837	0.008;0.008;0.008	T	0.29549	-1.0008	10	0.87932	D	0	.	12.7208	0.57142	0.1333:0.0:0.8667:0.0	.	1408;1726;1678	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	1678;1408;1726	ENSP00000283943:A1678V;ENSP00000373697:A1408V;ENSP00000373696:A1726V	ENSP00000283943:A1678V	A	-	2	0	TRIP12	230351499	1.000000	0.71417	0.944000	0.38274	0.986000	0.74619	9.355000	0.97087	0.845000	0.35118	0.591000	0.81541	GCG	TRIP12-005	NOVEL	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000331865.1		-	ENST00000389045.3	Missense_Mutation	SNP	2 : 230643255 - 230643255 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	485	5
TRMT5	57570	broad.mit.edu	37	14	61442343	61442343	+	Missense_Mutation	SNP	G	G	A	rs150018663		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:61442343G>A	ENST00000261249.6	-	4	1678	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	432						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GCCCTTTGCCGAACATCCTCA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	103	98	100		1294	5.7	0.5	14	dbSNP_134	100	0,8600		0,0,4300	no	missense	TRMT5	NM_020810.2	101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	432/510	61442343	1,13005	2203	4300	6503	SO:0001583	missense			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	57570	57570	2.1.1.228		23141	protein-coding gene	gene with protein product	tRNA (guanine(37)-N1)-methyltransferase	611023	KIAA1393, tRNA methyltransferase 5 homolog (S. cerevisiae)	KIAA1393	NA	15248782	Standard	NM_02081	XM_005267916	NA	Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1294C>T	14.37:g.61442343G>A	ENSP00000261249:p.Arg432Trp	NA	Q9P2F4	37	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380451	0.61845	2.27E-4	0.0	ENSG00000126814	ENST00000261249	T	0.23147	1.92	5.65	5.65	0.86999	.	0.634972	0.16877	N	0.195848	T	0.30166	0.0756	L	0.55213	1.73	0.40156	D	0.977004	D	0.56746	0.977	P	0.44860	0.462	T	0.02115	-1.1211	10	0.37606	T	0.19	-0.0093	14.7174	0.69280	0.0:0.0:0.8554:0.1446	.	432	Q32P41	TRM5_HUMAN	W	432	ENSP00000261249:R432W	ENSP00000261249:R432W	R	-	1	2	TRMT5	60512096	0.903000	0.30736	0.533000	0.28001	0.504000	0.33889	2.771000	0.47670	2.941000	0.99782	0.655000	0.94253	CGG	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412831.1		-	ENST00000261249.6	Missense_Mutation	SNP	14 : 61442343 - 61442343 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	402	5
TRPM6	140803	broad.mit.edu	37	9	77431650	77431650	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:77431650C>A	ENST00000360774.1	-	11	1480	c.1243G>T	c.(1243-1245)Gca>Tca	p.A415S	TRPM6_ENST00000376864.4_Missense_Mutation_p.A415S|TRPM6_ENST00000361255.3_Missense_Mutation_p.A410S|TRPM6_ENST00000449912.2_Missense_Mutation_p.A410S|TRPM6_ENST00000376872.3_Missense_Mutation_p.A415S|TRPM6_ENST00000376871.3_Missense_Mutation_p.A415S|TRPM6_ENST00000451710.3_Missense_Mutation_p.A415S	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	415					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAGCCATTGCCAGATTTAAT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	112	112			NA	NA	9		NA											NA				77431650		2203	4300	6503	SO:0001583	missense			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1243G>T	9.37:g.77431650C>A	ENSP00000354006:p.Ala415Ser	NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295979	0.81025	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.68	4.79	0.61399	.	0.148965	0.64402	D	0.000011	T	0.79551	0.4465	M	0.80982	2.52	0.53688	D	0.999978	P;P;D;P	0.65815	0.944;0.944;0.995;0.849	P;P;P;P	0.58721	0.475;0.572;0.844;0.674	T	0.82950	-0.0203	10	0.72032	D	0.01	.	14.6447	0.68751	0.0:0.9302:0.0:0.0698	.	415;415;415;410	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	S	415;415;415;415;410;410;415;78;78	ENSP00000354006:A415S;ENSP00000407341:A415S;ENSP00000366068:A415S;ENSP00000366067:A415S;ENSP00000396672:A410S;ENSP00000354962:A410S;ENSP00000366060:A415S	ENSP00000309693:A78S	A	-	1	0	TRPM6	76621470	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.336000	0.33850	1.418000	0.47098	0.555000	0.69702	GCA	TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Missense_Mutation	SNP	9 : 77431650 - 77431650 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	391	7
UACA	55075	broad.mit.edu	37	15	70960066	70960066	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:70960066G>A	ENST00000322954.6	-	16	3142	c.2957C>T	c.(2956-2958)gCc>gTc	p.A986V	UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	986						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAATTGGGGCGTATTTTAC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	168	173			NA	NA	15		NA											NA				70960066		2199	4298	6497	SO:0001583	missense			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831	55075	55075		Ankyrin repeat domain containing	15947	protein-coding gene	gene with protein product		612516			NA	11162650, 10997877	Standard		NM_001008224	NA	Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2957C>T	15.37:g.70960066G>A	ENSP00000314556:p.Ala986Val	NA	Q14DD3|Q8N3B8|Q9HCL1|Q9NWC6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007305	0.19199	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34472	1.36;1.38;1.84	5.95	5.95	0.96441	.	0.090219	0.48286	D	0.000185	T	0.49508	0.1561	L	0.55481	1.735	0.37463	D	0.915283	P;P;P;P	0.47253	0.889;0.823;0.892;0.889	P;P;P;P	0.52217	0.693;0.497;0.497;0.542	T	0.35475	-0.9787	10	0.29301	T	0.29	-2.1448	20.3931	0.98965	0.0:0.0:1.0:0.0	.	877;986;986;973	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	986;973;877	ENSP00000314556:A986V;ENSP00000369319:A973V;ENSP00000438667:A877V	ENSP00000314556:A986V	A	-	2	0	UACA	68747120	1.000000	0.71417	0.022000	0.16811	0.126000	0.20510	5.695000	0.68279	2.824000	0.97209	0.655000	0.94253	GCC	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257199.2		-	ENST00000322954.6	Missense_Mutation	SNP	15 : 70960066 - 70960066 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	712	6
UAP1L1	91373	broad.mit.edu	37	9	139974535	139974535	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:139974535G>A	ENST00000409858.3	+	6	1151	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	UAP1L1_ENST00000360271.3_Silent_p.P250P	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	373			P -> S (in dbSNP:rs1122444).				nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGGTAAAGCCGCTAAAACCGA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	219	229			NA	NA	9		NA											NA				139974535		2202	4300	6502	SO:0001819	synonymous_variant			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355	91373	91373			28082	protein-coding gene	gene with protein product					NA		Standard	XM_038063	NM_207309	NA	Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1119G>A	9.37:g.139974535G>A		NA	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	37	CCDS7028.2																																																																																			UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055216.2		+	ENST00000409858.3	Silent	SNP	9 : 139974535 - 139974535 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	578	7
ZBED4	9889	broad.mit.edu	37	22	50278645	50278645	+	Silent	SNP	C	C	T	rs141708563		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50278645C>T	ENST00000216268.5	+	2	1812	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	NA						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AATCTGGCGCCATCTTCCAGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		0,4406		0,0,2203	66	71	69		1335	-10.6	0	22	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZBED4	NM_014838.2		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		445/1172	50278645	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426	9889	9889		Zinc fingers, BED-type	20721	protein-coding gene	gene with protein product		612552			NA	23533661	Standard	NM_014838	NM_014838	NA	Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1335C>T	22.37:g.50278645C>T		NA	B2RZH1|Q1ECU0|Q9UGG8	37	CCDS33677.1																																																																																			ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317408.2		+	ENST00000216268.5	Silent	SNP	22 : 50278645 - 50278645 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	504	51
ZNF33B	7582	broad.mit.edu	37	10	43090109	43090109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:43090109C>A	ENST00000359467.3	-	5	403	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATTGATTTTCTTGGCTCCTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(137;1247 1767 16772 25727 43810)							NA				0													79	80	80			NA	NA	10		NA											NA				43090109		2203	4298	6501	SO:0001587	stop_gained			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693	7582	7582		Zinc fingers, C2H2-type, -	13097	protein-coding gene	gene with protein product		194522	zinc finger protein 33b (KOX 31), zinc finger protein 11B	ZNF11B	NA	2014798	Standard	NM_006955	NM_006955	NA	Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.289G>T	10.37:g.43090109C>A	ENSP00000352444:p.Glu97*	NA	Q06731|Q32MA2|Q86XY8|Q8NDW3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760951	0.89932	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.14	2.14	0.27477	.	0.000000	0.37219	N	0.002190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	10.4164	0.44325	0.0:1.0:0.0:0.0	.	.	.	.	X	97;63	.	ENSP00000352444:E97X	E	-	1	0	ZNF33B	42410115	0.000000	0.05858	0.708000	0.30435	0.654000	0.38779	0.237000	0.17985	1.526000	0.49068	0.416000	0.27883	GAA	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000359467.3	Nonsense_Mutation	SNP	10 : 43090109 - 43090109 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	466	13
ZNF554	115196	broad.mit.edu	37	19	2834450	2834450	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:2834450A>G	ENST00000317243.5	+	5	1415	c.1217A>G	c.(1216-1218)aAg>aGg	p.K406R		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGGAAAAGCCCTATAAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	19		NA											NA				2834450		2184	4297	6481	SO:0001583	missense			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006	115196	115196		Zinc fingers, C2H2-type, -	26629	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152303	NM_001102651	NA	Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1217A>G	19.37:g.2834450A>G	ENSP00000321132:p.Lys406Arg	NA	Q8NAT3|Q9BWN3	37	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236253	0.58886	.	.	ENSG00000172006	ENST00000317243	T	0.24908	1.83	2.76	2.76	0.32466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37376	0.1001	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10109	-1.0644	9	0.54805	T	0.06	.	8.9895	0.36014	1.0:0.0:0.0:0.0	.	406	Q86TJ5	ZN554_HUMAN	R	406	ENSP00000321132:K406R	ENSP00000321132:K406R	K	+	2	0	ZNF554	2785450	0.475000	0.25894	0.998000	0.56505	0.649000	0.38597	0.045000	0.14013	1.280000	0.44463	0.467000	0.42956	AAG	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451598.3		+	ENST00000317243.5	Missense_Mutation	SNP	19 : 2834450 - 2834450 G PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	267	4
ZNF614	80110	broad.mit.edu	37	19	52520103	52520103	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:52520103G>A	ENST00000270649.6	-	5	1292	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	250				L -> P (in Ref. 1; BAC04966).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTAGTTTTCAGATGCTTAGTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	70	71			NA	NA	19		NA											NA				52520103		2203	4300	6503	SO:0001819	synonymous_variant			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556	80110	80110		Zinc fingers, C2H2-type, -	24722	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025040	NM_025040	NA	Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.748C>T	19.37:g.52520103G>A		NA	Q494T8|Q8TCF4	37	CCDS12847.1																																																																																			ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462407.1		-	ENST00000270649.6	Silent	SNP	19 : 52520103 - 52520103 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	554	15
ZNF645	158506	broad.mit.edu	37	X	22291423	22291423	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:22291423G>A	ENST00000323684.1	+	1	359	c.315G>A	c.(313-315)gcG>gcA	p.A105A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	105						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GAATTGAGGCGCATAAACGAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	69	74			NA	NA	X		NA											NA				22291423		2202	4300	6502	SO:0001819	synonymous_variant			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.315G>A	X.37:g.22291423G>A		NA	A0AV29|A0AV31|Q6DJY9	37	CCDS14205.1																																																																																			ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056037.1		+	ENST00000323684.1	Silent	SNP	X : 22291423 - 22291423 A PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	629	6
ZSWIM2	151112	broad.mit.edu	37	2	187702250	187702250	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:187702250A>T	ENST00000295131.2	-	5	565	c.526T>A	c.(526-528)Tgc>Agc	p.C176S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	176					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCTTCATGCATTTTATATGA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	68	67			NA	NA	2		NA											NA				187702250		2203	4300	6503	SO:0001583	missense			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012	151112	151112		Zinc fingers, SWIM-type, Zinc fingers, ZZ-type	30990	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182521	NM_182521	NA	Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.526T>A	2.37:g.187702250A>T	ENSP00000295131:p.Cys176Ser	NA	B3KXV6|Q53SI3|Q57ZY3	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228314	0.79576	.	.	ENSG00000163012	ENST00000295131	D	0.99701	-6.45	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000014	D	0.99729	0.9894	M	0.90542	3.125	0.51233	D	0.999915	D	0.89917	1.0	D	0.85130	0.997	D	0.97371	0.9976	10	0.87932	D	0	-6.639	13.9615	0.64182	1.0:0.0:0.0:0.0	.	176	Q8NEG5	ZSWM2_HUMAN	S	176	ENSP00000295131:C176S	ENSP00000295131:C176S	C	-	1	0	ZSWIM2	187410495	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.756000	0.74919	2.287000	0.76781	0.482000	0.46254	TGC	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334565.1		-	ENST00000295131.2	Missense_Mutation	SNP	2 : 187702250 - 187702250 T PAAD-TCGA-XN-A8T5-Tumor-SM-5KWXX	277	9
