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
AMER2	219287	broad.mit.edu	37	13	25744404	25744404	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:25744404C>T	ENST00000357816.2	-	3	1472	c.997G>A	c.(997-999)Gag>Aag	p.E333K	AMER2_ENST00000381853.3_Missense_Mutation_p.E333K|AMER2_ENST00000515384.1_Missense_Mutation_p.E452K					APC membrane recruitment protein 2	NA											NA						TCCTGGGGCTCGGGTCCCTGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	22	22			NA	NA	13		NA											NA				25744404		2203	4300	6503	SO:0001583	missense			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566	219287	219287		-	26360	protein-coding gene	gene with protein product		614659	family with sequence similarity 123A	FAM123A	NA	20843316	Standard	NM_152704	XM_005266279	NA	Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000357816.2:c.997G>A	13.37:g.25744404C>T	ENSP00000350469:p.Glu333Lys	NA		37	CCDS9312.1	.	.	.	.	.	.	.	.	.	.	C	6.954	0.545819	0.13312	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.16897	2.31;2.31;2.31	4.6	4.6	0.57074	.	0.331247	0.28572	N	0.014875	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.036;0.005	B;B	0.14578	0.011;0.003	T	0.33954	-0.9848	10	0.09590	T	0.72	-5.5157	9.997	0.41905	0.0:0.8971:0.0:0.1029	.	452;333	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	K	333;333;452	ENSP00000350469:E333K;ENSP00000371277:E333K;ENSP00000426528:E452K	ENSP00000350469:E333K	E	-	1	0	FAM123A	24642404	0.000000	0.05858	0.023000	0.16930	0.064000	0.16182	0.150000	0.16263	2.383000	0.81215	0.561000	0.74099	GAG	AMER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044221.2		-	ENST00000357816.2	Missense_Mutation	SNP	13 : 25744404 - 25744404 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	128	27
BCL9	607	broad.mit.edu	37	1	147084715	147084715	+	Silent	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGGTCCGTCCCCCTACAG	0.502		NA	T	IGH@, IGL@	B-ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													87	90	89			NA	NA	1		NA											NA				147084715		2203	4300	6503	SO:0001819	synonymous_variant			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128	607	607			1008	protein-coding gene	gene with protein product		602597			NA	9490669	Standard	NM_004326	NM_004326	NA	Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.87T>C	1.37:g.147084715T>C		NA	Q5T489	37	CCDS30833.1																																																																																			BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039468.1		+	ENST00000234739.3	Silent	SNP	1 : 147084715 - 147084715 C PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	346	5
BMP3	651	broad.mit.edu	37	4	81967241	81967241	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:81967241G>A	ENST00000282701.2	+	2	986	c.666G>A	c.(664-666)acG>acA	p.T222T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	222			T -> M (in dbSNP:rs34505126).		cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTAACATTACGTCCAAGGGAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	117	125	122		666	-2.1	0.2	4		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP3	NM_001201.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		222/473	81967241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785	651	651		Bone morphogenetic proteins	1070	protein-coding gene	gene with protein product	osteogenin	112263	bone morphogenetic protein 3 (osteogenic)		NA		Standard		NM_001201	NA	Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.666G>A	4.37:g.81967241G>A		NA	Q4VAS5	37	CCDS3588.1																																																																																			BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252634.1		+	ENST00000282701.2	Silent	SNP	4 : 81967241 - 81967241 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	622	13
BTBD11	121551	broad.mit.edu	37	12	107937864	107937864	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:107937864G>A	ENST00000280758.5	+	3	1966	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	480						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCACAAATGGAATGGGAAAA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	60	63			NA	NA	12		NA											NA				107937864		2203	4300	6503	SO:0001583	missense			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136	121551	121551		BTB/POZ domain containing, Ankyrin repeat domain containing	23844	protein-coding gene	gene with protein product					NA		Standard	NM_152322	XM_005268645	NA	Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1438G>A	12.37:g.107937864G>A	ENSP00000280758:p.Glu480Lys	NA	A4FU41|C9J019|C9JK80|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356457	0.95854	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.74150	-0.3758	10	0.72032	D	0.01	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	480;480;480	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	480;480;480;111;114	ENSP00000280758:E480K;ENSP00000413889:E480K;ENSP00000447319:E480K;ENSP00000447606:E111K;ENSP00000407416:E114K	ENSP00000280758:E480K	E	+	1	0	BTBD11	106461994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.666000	0.90696	0.655000	0.94253	GAA	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318003.1		+	ENST00000280758.5	Missense_Mutation	SNP	12 : 107937864 - 107937864 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	282	52
C15orf59	388135	broad.mit.edu	37	15	74032307	74032307	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:74032307G>A	ENST00000569673.1	-	3	2037	c.833C>T	c.(832-834)aCg>aTg	p.T278M	C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	278										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCAGAACCGTCTGCGTGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	108	106			NA	NA	15		NA											NA				74032307		2198	4297	6495	SO:0001583	missense				CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363	388135	388135			33753	protein-coding gene	gene with protein product					NA		Standard	NM_001039614	XM_005254369	NA	Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.833C>T	15.37:g.74032307G>A	ENSP00000457205:p.Thr278Met	NA		37	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338827	0.81911	.	.	ENSG00000205363	ENST00000379822	T	0.68903	-0.36	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81595	-0.0861	10	0.87932	D	0	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	278	Q2T9L4	CO059_HUMAN	M	278	ENSP00000369150:T278M	ENSP00000369150:T278M	T	-	2	0	C15orf59	71819360	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.060000	0.93907	2.354000	0.79902	0.561000	0.74099	ACG	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419077.2		-	ENST00000569673.1	Missense_Mutation	SNP	15 : 74032307 - 74032307 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	875	7
C4orf50	389197	broad.mit.edu	37	4	5969155	5969155	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:5969155G>A	ENST00000531445.1	-	5	1911	c.1865C>T	c.(1864-1866)aCg>aTg	p.T622M	C4orf50_ENST00000324058.5_Missense_Mutation_p.T148M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	148										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TAAAGCTGCCGTCATCTCAGA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	128	135			NA	NA	4		NA											NA				5969155		2203	4300	6503	SO:0001583	missense			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215	389197	389197			33766	protein-coding gene	gene with protein product					NA		Standard	NM_207405	XM_003119922	NA	Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000531445.1:c.1865C>T	4.37:g.5969155G>A	ENSP00000437121:p.Thr622Met	NA		37		.	.	.	.	.	.	.	.	.	.	G	13.64	2.296676	0.40594	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.27720	1.65;1.65	2.99	2.99	0.34606	.	0.665167	0.13125	N	0.411927	T	0.47340	0.1440	L	0.56769	1.78	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.17289	-1.0374	10	0.72032	D	0.01	-2.3166	9.7214	0.40306	0.0:0.0:1.0:0.0	.	148	Q6ZRC1	CD050_HUMAN	M	622;148	ENSP00000437121:T622M;ENSP00000317287:T148M	ENSP00000317287:T148M	T	-	2	0	C4orf50	6020056	0.002000	0.14202	0.003000	0.11579	0.140000	0.21249	1.108000	0.31123	1.992000	0.58205	0.655000	0.94253	ACG	C4orf50-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000314647.3		-	ENST00000531445.1	Missense_Mutation	SNP	4 : 5969155 - 5969155 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	458	12
C9orf24	84688	broad.mit.edu	37	9	34381380	34381380	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:34381380C>T	ENST00000297623.2	-	4	657	c.459G>A	c.(457-459)cgG>cgA	p.R153R	C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	153										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		AGGCATTGAGCCGCTCCGGCC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	131	137			NA	NA	9		NA											NA				34381380		2203	4300	6503	SO:0001819	synonymous_variant			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972	84688	84688			19919	protein-coding gene	gene with protein product	ciliated bronchial epithelium 1, spermatid-specific manchette-related protein 1				NA	12029067	Standard	NM_147169	NM_147168	NA	Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.459G>A	9.37:g.34381380C>T		NA	Q5T599|Q8N9G4|Q96KD1|Q96LN1	37	CCDS6554.1																																																																																			C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001098.3		-	ENST00000297623.2	Silent	SNP	9 : 34381380 - 34381380 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	554	5
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294		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:0001819	synonymous_variant			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873	445571	445571			18519	protein-coding gene	gene with protein product		611080			NA	15233989, 12421752	Standard	NM_201453	XM_005277637	NA	Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T		NA		37	CCDS35038.1																																																																																			CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052526.1		+	ENST00000360171.6	Silent	SNP	9 : 70871889 - 70871889 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	952	7
CELF5	60680	broad.mit.edu	37	19	3290280	3290280	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:3290280A>G	ENST00000292672.2	+	11	1275	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CELF5_ENST00000541430.2_Silent_p.R374R	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	413	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GAGTTTGGAGACACGGAGCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	87	91			NA	NA	19		NA											NA				3290280		2203	4300	6503	SO:0001583	missense			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082	60680	60680		RNA binding motif (RRM) containing	14058	protein-coding gene	gene with protein product		612680	Bruno (Drosophila) -like 5, RNA binding protein, bruno-like 5, RNA binding protein (Drosophila)	BRUNOL5	NA	10893231	Standard	NM_021938	NM_001172673	NA	Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1238A>G	19.37:g.3290280A>G	ENSP00000292672:p.Asp413Gly	NA	D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	37	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355769	0.82243	.	.	ENSG00000161082	ENST00000292672	T	0.17370	2.28	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52419	-0.8578	10	0.87932	D	0	-20.3383	12.6476	0.56744	1.0:0.0:0.0:0.0	.	413	Q8N6W0	CELF5_HUMAN	G	413	ENSP00000292672:D413G	ENSP00000292672:D413G	D	+	2	0	CELF5	3241280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.258000	0.95555	1.731000	0.51592	0.443000	0.29094	GAC	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452574.1		+	ENST00000292672.2	Missense_Mutation	SNP	19 : 3290280 - 3290280 G PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	297	4
CLTCL1	8218	broad.mit.edu	37	22	19209057	19209057	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:19209057G>T	ENST00000263200.10	-	17	2711	c.2639C>A	c.(2638-2640)gCt>gAt	p.A880D	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	880	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTAGATTTTAGCCAGTGCATT	0.547		NA	T	?	ALCL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		22	22q11.21	8218	clathrin, heavy polypeptide-like 1		L	0													32	32	32			NA	NA	22		NA											NA				19209057		2080	4247	6327	SO:0001583	missense				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371	8218	8218			2093	protein-coding gene	gene with protein product		601273	clathrin, heavy polypeptide-like 1	CLTCL	NA	8844170, 15133132	Standard	NM_007098	NM_007098	NA	Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2639C>A	22.37:g.19209057G>T	ENSP00000445677:p.Ala880Asp	NA	B7Z7U5|Q14017|Q15808|Q15809	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083901	0.55861	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23552	1.9;1.9;1.9	3.63	3.63	0.41609	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.072624	0.53938	D	0.000042	T	0.60919	0.2306	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	T	0.74902	-0.3506	10	0.87932	D	0	-3.9812	15.456	0.75314	0.0:0.0:1.0:0.0	.	880;880	P53675-2;P53675	.;CLH2_HUMAN	D	880	ENSP00000439662:A880D;ENSP00000445677:A880D;ENSP00000441158:A880D	ENSP00000445677:A880D	A	-	2	0	CLTCL1	17589057	1.000000	0.71417	0.968000	0.41197	0.008000	0.06430	8.761000	0.91691	1.880000	0.54463	0.462000	0.41574	GCT	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316397.5		-	ENST00000263200.10	Missense_Mutation	SNP	22 : 19209057 - 19209057 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	82	15
CNTN3	5067	broad.mit.edu	37	3	74344358	74344358	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:74344358C>T	ENST00000263665.6	-	18	2458	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	811	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGGCTATTTGCAGAGACTTGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	91	94			NA	NA	3		NA											NA				74344358		2203	4300	6503	SO:0001583	missense			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805	5067	5067		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	2173	protein-coding gene	gene with protein product		601325		PANG	NA	8661054, 8586965	Standard	NM_020872	XM_005264757	NA	Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2431G>A	3.37:g.74344358C>T	ENSP00000263665:p.Ala811Thr	NA	B9EK50|Q9H039	37	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619386	0.87460	.	.	ENSG00000113805	ENST00000263665	T	0.60299	0.2	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176408	0.50627	D	0.000108	T	0.62196	0.2408	M	0.63843	1.955	0.51233	D	0.999919	B	0.27166	0.17	B	0.37692	0.256	T	0.62863	-0.6764	10	0.59425	D	0.04	.	14.528	0.67902	0.1464:0.8535:0.0:0.0	.	811	Q9P232	CNTN3_HUMAN	T	811	ENSP00000263665:A811T	ENSP00000263665:A811T	A	-	1	0	CNTN3	74427048	1.000000	0.71417	0.435000	0.26784	0.996000	0.88848	5.357000	0.66058	2.649000	0.89929	0.650000	0.86243	GCA	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352306.1		-	ENST00000263665.6	Missense_Mutation	SNP	3 : 74344358 - 74344358 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	386	102
CSMD1	64478	broad.mit.edu	37	8	2820823	2820823	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:2820823G>A	ENST00000520002.1	-	61	9933	c.9378C>T	c.(9376-9378)gaC>gaT	p.D3126D	CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602557.1_Silent_p.D3126D|CSMD1_ENST00000602723.1_Silent_p.D2949D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000537824.1_Silent_p.D3125D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3126	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGGTAACCGTCCATGCAGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	116	113			NA	NA	8		NA											NA				2820823		1971	4163	6134	SO:0001819	synonymous_variant					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117	64478	64478		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14026	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 24	608397			NA		Standard	NM_033225	NM_033225	NA	Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9378C>T	8.37:g.2820823G>A		NA	Q0H0J5|Q96QU9|Q96RM4	37		.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004364	0.02112	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.69	-2.77	0.05877	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34354	-0.9832	4	.	.	.	.	0.4751	0.00538	0.3679:0.2388:0.1773:0.216	.	.	.	.	W	2543	.	.	R	-	1	2	CSMD1	2808230	0.000000	0.05858	0.047000	0.18901	0.110000	0.19582	-1.200000	0.03029	-0.162000	0.10964	-0.136000	0.14681	CGG	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000374500.2		-	ENST00000520002.1	Silent	SNP	8 : 2820823 - 2820823 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	585	5
CTC1	80169	broad.mit.edu	37	17	8138120	8138120	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:8138120G>A	ENST00000315684.8	-	9	1571	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	522					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGTGCATTCCGAACAGGGCTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0									TRP/ARG	9,3983		0,9,1987	98	100	99		1564	5.2	0.1	17		99	0,8312		0,0,4156	yes	missense	CTC1	NM_025099.5	101	0,9,6143	AA,AG,GG	NA	0.0,0.2255,0.0731	probably-damaging	522/1218	8138120	9,12295	1996	4156	6152	SO:0001583	missense			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971	80169	80169			26169	protein-coding gene	gene with protein product	conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1	613129	tmp494178, chromosome 17 open reading frame 68	C17orf68	NA	19854130, 19854131	Standard	NM_025099	NM_025099	NA	Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1564C>T	17.37:g.8138120G>A	ENSP00000313759:p.Arg522Trp	NA	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.753873	0.31046	0.002255	0.0	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.91792	-2.91;-2.91	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	D	0.95357	0.8493	M	0.71581	2.175	0.43494	D	0.995737	D	0.89917	1.0	D	0.91635	0.999	D	0.95629	0.8688	10	0.87932	D	0	-22.3791	14.2593	0.66073	0.0:0.0:1.0:0.0	.	522	Q2NKJ3	CTC1_HUMAN	W	522;487	ENSP00000313759:R522W;ENSP00000396018:R487W	ENSP00000313759:R522W	R	-	1	2	CTC1	8078845	0.730000	0.28100	0.130000	0.21974	0.123000	0.20343	1.428000	0.34892	2.459000	0.83118	0.598000	0.82781	CGG	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442012.1		-	ENST00000315684.8	Missense_Mutation	SNP	17 : 8138120 - 8138120 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	441	6
DNAH2	146754	broad.mit.edu	37	17	7708357	7708357	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708357G>C	ENST00000572933.1	+	60	10725	c.9265G>C	c.(9265-9267)Gaa>Caa	p.E3089Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3089	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAAGATCTAGAAGAGGCACT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	73	71			NA	NA	17		NA											NA				7708357		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9265G>C	17.37:g.7708357G>C	ENSP00000458355:p.Glu3089Gln	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782129	0.70222	.	.	ENSG00000183914	ENST00000389173	T	0.74209	-0.82	4.88	4.88	0.63580	Dynein heavy chain, coiled coil stalk (1);	0.057608	0.64402	D	0.000002	T	0.71117	0.3302	L	0.37800	1.135	0.80722	D	1	B	0.28258	0.205	B	0.39152	0.292	T	0.66221	-0.5978	10	0.24483	T	0.36	.	16.9512	0.86246	0.0:0.0:1.0:0.0	.	3089	Q9P225	DYH2_HUMAN	Q	3089	ENSP00000373825:E3089Q	ENSP00000373825:E3089Q	E	+	1	0	DNAH2	7649082	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.930000	0.75858	2.541000	0.85698	0.591000	0.81541	GAA	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7708357 - 7708357 C PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	440	109
DNAH2	146754	broad.mit.edu	37	17	7708641	7708641	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708641G>C	ENST00000572933.1	+	61	10832	c.9372G>C	c.(9370-9372)gaG>gaC	p.E3124D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3124	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAAGTGGAGATAGTGATGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	106	107			NA	NA	17		NA											NA				7708641		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9372G>C	17.37:g.7708641G>C	ENSP00000458355:p.Glu3124Asp	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918069	0.73098	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	5.62	2.09	0.27110	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.43757	1.38	0.80722	D	1	P;P	0.40660	0.48;0.726	B;P	0.51297	0.413;0.665	T	0.42155	-0.9468	10	0.25751	T	0.34	.	10.78	0.46371	0.2594:0.0:0.7406:0.0	.	3085;3124	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3085;3124	ENSP00000373825:E3124D	ENSP00000353818:E3085D	E	+	3	2	DNAH2	7649366	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	1.613000	0.36900	0.724000	0.32296	0.655000	0.94253	GAG	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7708641 - 7708641 C PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	358	85
DNAH2	146754	broad.mit.edu	37	17	7708672	7708672	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708672G>C	ENST00000572933.1	+	61	10863	c.9403G>C	c.(9403-9405)Ggc>Cgc	p.G3135R	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3135	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATTCTTCGAGGCAACGAGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	93	94			NA	NA	17		NA											NA				7708672		2203	4300	6503	SO:0001583	missense			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9403G>C	17.37:g.7708672G>C	ENSP00000458355:p.Gly3135Arg	NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014629	0.75161	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.83163	-1.69	5.62	5.62	0.85841	Dynein heavy chain, coiled coil stalk (1);	0.056220	0.64402	D	0.000001	D	0.86104	0.5853	M	0.83774	2.66	0.80722	D	1	B;B	0.32324	0.314;0.364	B;B	0.35240	0.198;0.188	D	0.85682	0.1301	10	0.51188	T	0.08	.	18.4187	0.90579	0.0:0.0:1.0:0.0	.	3096;3135	Q9P225-2;Q9P225	.;DYH2_HUMAN	R	3096;3135	ENSP00000373825:G3135R	ENSP00000353818:G3096R	G	+	1	0	DNAH2	7649397	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.688000	0.74557	2.652000	0.90054	0.655000	0.94253	GGC	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Missense_Mutation	SNP	17 : 7708672 - 7708672 C PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	324	67
ELOVL4	6785	broad.mit.edu	37	6	80635984	80635984	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:80635984G>T	ENST00000369816.4	-	2	515	c.215C>A	c.(214-216)cCt>cAt	p.P72H		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	72					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CATCTGAAAAGGTTCTCGGTC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	77	81			NA	NA	6		NA											NA				80635984		2203	4300	6503	SO:0001583	missense			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402	6785	6785			14415	protein-coding gene	gene with protein product	cancer/testis antigen 118	605512	elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4	STGD2, STGD3	NA	11138005	Standard		NM_022726	NA	Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.215C>A	6.37:g.80635984G>T	ENSP00000358831:p.Pro72His	NA	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	37	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983967	0.93044	.	.	ENSG00000118402	ENST00000369816	T	0.26810	1.71	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78841	-0.2045	10	0.87932	D	0	-9.8818	19.1531	0.93496	0.0:0.0:1.0:0.0	.	72	Q9GZR5	ELOV4_HUMAN	H	72	ENSP00000358831:P72H	ENSP00000358831:P72H	P	-	2	0	ELOVL4	80692703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.753000	0.94483	0.655000	0.94253	CCT	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041315.1		-	ENST00000369816.4	Missense_Mutation	SNP	6 : 80635984 - 80635984 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	405	88
FAM13C	220965	broad.mit.edu	37	10	61028449	61028449	+	Missense_Mutation	SNP	G	G	A	rs138913406	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:61028449G>A	ENST00000277705.6	-	8	970	c.869C>T	c.(868-870)cCg>cTg	p.P290L	FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P186L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000373868.2_Missense_Mutation_p.P269L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	269										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAACTCCGCGGCCTGCAGTG	0.493		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	8e-04	SNP								NA				0								G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	41	39	40		806,557,557,806	6	1	10	dbSNP_134	40	0,8600		0,0,4300	yes	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	98,98,98,98	0,7,6496	AA,AG,GG	NA	0.0,0.1589,0.0538	benign,benign,benign,benign	269/488,186/503,186/502,269/586	61028449	7,12999	2203	4300	6503	SO:0001583	missense			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541	220965	220965			19371	protein-coding gene	gene with protein product			family with sequence similarity 13, member C1	FAM13C1	NA		Standard		NM_001001971	NA	Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000277705.6:c.869C>T	10.37:g.61028449G>A	ENSP00000277705:p.Pro290Leu	NA	Q5T631|Q6P2M3|Q99787	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.53	2.563159	0.45694	0.001589	0.0	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;0.9;-0.96;-0.96;-0.96;-0.96	6.04	6.04	0.98038	.	0.142017	0.49916	N	0.000133	T	0.77618	0.4157	L	0.39147	1.195	0.80722	D	1	P;B;B;D;B	0.67145	0.487;0.018;0.296;0.996;0.347	B;B;B;P;B	0.53861	0.13;0.018;0.087;0.736;0.083	T	0.72347	-0.4321	10	0.27082	T	0.32	-3.6719	20.5891	0.99427	0.0:0.0:1.0:0.0	.	269;186;269;269;269	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	186;269;290;290;269;186;269;269;47	ENSP00000362974:P186L;ENSP00000362975:P269L;ENSP00000395661:P290L;ENSP00000277705:P290L;ENSP00000391993:P269L;ENSP00000423896:P186L;ENSP00000392302:P269L;ENSP00000400241:P269L;ENSP00000445068:P47L	ENSP00000277705:P290L	P	-	2	0	FAM13C	60698455	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	3.913000	0.56394	2.876000	0.98609	0.650000	0.86243	CCG	FAM13C-003	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000048165.3		-	ENST00000277705.6	Missense_Mutation	SNP	10 : 61028449 - 61028449 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	263	58
FMNL3	91010	broad.mit.edu	37	12	50047068	50047068	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:50047068G>A	ENST00000335154.5	-	13	1497	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R422W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	422	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCTGCCACCCGCATCATGTTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	183	182			NA	NA	12		NA											NA				50047068		1987	4166	6153	SO:0001583	missense			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10					91010	91010			23698	protein-coding gene	gene with protein product					NA	12684686	Standard	NM_175736	NM_198900	NA	Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000335154.5:c.1264C>T	12.37:g.50047068G>A	ENSP00000335655:p.Arg422Trp	NA	B0JZA7|Q6ZRJ1	37	CCDS44874.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267087	0.80469	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.58	3.58	0.41010	.	0.113971	0.56097	D	0.000029	T	0.49081	0.1536	M	0.63843	1.955	0.46437	D	0.999047	D;D	0.89917	0.987;1.0	P;D	0.70016	0.534;0.967	T	0.52208	-0.8606	10	0.87932	D	0	.	11.3304	0.49473	0.0:0.1371:0.7209:0.142	.	371;422	Q8IVF7-2;Q8IVF7-3	.;.	W	422;422;371;422	ENSP00000335655:R422W;ENSP00000447479:R422W;ENSP00000344311:R371W;ENSP00000293590:R422W	ENSP00000293590:R422W	R	-	1	2	FMNL3	48333335	0.345000	0.24835	1.000000	0.80357	0.998000	0.95712	1.072000	0.30678	1.455000	0.47813	0.655000	0.94253	CGG	FMNL3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405275.1		-	ENST00000335154.5	Missense_Mutation	SNP	12 : 50047068 - 50047068 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	865	6
GALNT10	55568	broad.mit.edu	37	5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	253	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	154	163			NA	NA	5		NA											NA				153760011		2203	4300	6503	SO:0001583	missense			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	55568	55568	2.4.1.41	Glycosyltransferase family 2 domain containing	19873	protein-coding gene	gene with protein product	polypeptide GalNAc transferase 10	608043	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)		NA	12417297	Standard	NM_198321	NM_198321	NA	Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.758G>A	5.37:g.153760011G>A	ENSP00000297107:p.Arg253His	NA	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	37	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.22	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.052285	0.85682	D	0.000000	T	0.70029	0.3177	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.997	P;P;P	0.59288	0.855;0.801;0.607	T	0.71487	-0.4578	10	0.51188	T	0.08	.	14.7691	0.69662	0.0:0.1441:0.8559:0.0	.	191;253;253	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	253;253;191	ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H	ENSP00000297107:R253H	R	+	2	0	GALNT10	153740204	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.457000	0.73505	2.535000	0.85469	0.462000	0.41574	CGC	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252453.1		+	ENST00000297107.6	Missense_Mutation	SNP	5 : 153760011 - 153760011 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	537	5
GBP1	2633	broad.mit.edu	37	1	89528769	89528769	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:89528769C>T	ENST00000370473.4	-	2	368	c.149G>A	c.(148-150)gGc>gAc	p.G50D		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	50					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTAGGATTTGCCTGTGCGGTA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	130	135			NA	NA	1		NA											NA				89528769		2203	4300	6503	SO:0001583	missense			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228	2633	2633			4182	protein-coding gene	gene with protein product		600411	guanylate binding protein 1, interferon-inducible, 67kDa		NA	7518790	Standard	NM_002053	NM_002053	NA	Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.149G>A	1.37:g.89528769C>T	ENSP00000359504:p.Gly50Asp	NA	D3DT26|Q5T8M1	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057674	0.55325	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	D	0.97994	-4.65	4.76	4.76	0.60689	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.99415	4.555	0.45005	D	0.998025	D	0.89917	1.0	D	0.91635	0.999	D	0.98192	1.0463	10	0.87932	D	0	.	15.2561	0.73585	0.0:1.0:0.0:0.0	.	50	P32455	GBP1_HUMAN	D	50;13	ENSP00000359504:G50D	ENSP00000359504:G50D	G	-	2	0	GBP1	89301357	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.298000	0.59067	2.186000	0.69663	0.313000	0.20887	GGC	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029289.3		-	ENST00000370473.4	Missense_Mutation	SNP	1 : 89528769 - 89528769 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	502	5
HCRTR2	3062	broad.mit.edu	37	6	55039393	55039393	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:55039393G>A	ENST00000370862.3	+	1	344	c.8G>A	c.(7-9)gGc>gAc	p.G3D		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	3					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGATGTCCGGCACCAAATTG	0.577		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	6e-04	SNP								NA				0													85	81	83			NA	NA	6		NA											NA				55039393		2203	4300	6503	SO:0001583	missense			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252	3062	3062		GPCR / Class A : Hypocretin (orexin) receptors	4849	protein-coding gene	gene with protein product		602393			NA	9491897	Standard		NM_001526	NA	Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.8G>A	6.37:g.55039393G>A	ENSP00000359899:p.Gly3Asp	NA	Q5VTM0	37	CCDS4956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.10	3.026954	0.54683	.	.	ENSG00000137252	ENST00000370862	T	0.61392	0.11	4.99	4.99	0.66335	.	0.057491	0.64402	D	0.000002	T	0.35740	0.0942	L	0.47716	1.5	0.42876	D	0.994151	P	0.41313	0.745	B	0.31290	0.127	T	0.51076	-0.8751	10	0.72032	D	0.01	.	14.9164	0.70801	0.0:0.1435:0.8565:0.0	.	3	O43614	OX2R_HUMAN	D	3	ENSP00000359899:G3D	ENSP00000359899:G3D	G	+	2	0	HCRTR2	55147352	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.046000	0.49846	2.599000	0.87857	0.563000	0.77884	GGC	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043392.1		+	ENST00000370862.3	Missense_Mutation	SNP	6 : 55039393 - 55039393 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	416	5
HERC6	55008	broad.mit.edu	37	4	89334269	89334269	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:89334269C>A	ENST00000380265.5	+	12	1592	c.1409C>A	c.(1408-1410)cCa>cAa	p.P470Q	HERC6_ENST00000264346.7_Missense_Mutation_p.P470Q	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	470					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAGCTCTTCCATGCCATTCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	241	243			NA	NA	4		NA											NA				89334269		1958	4178	6136	SO:0001583	missense			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642	55008	55008			26072	protein-coding gene	gene with protein product		609249	hect domain and RLD 6		NA		Standard		NM_001165136	NA	Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000380265.5:c.1409C>A	4.37:g.89334269C>A	ENSP00000369617:p.Pro470Gln	NA	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	37	CCDS54777.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271412	0.80469	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.38240	1.15;1.16	4.76	2.94	0.34122	.	0.433846	0.21414	N	0.074931	T	0.49047	0.1534	M	0.72894	2.215	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.65987	0.94;0.873	T	0.45804	-0.9236	10	0.19147	T	0.46	.	6.9105	0.24333	0.1722:0.7356:0.0:0.0922	.	470;470	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Q	470	ENSP00000369617:P470Q;ENSP00000264346:P470Q	ENSP00000264346:P470Q	P	+	2	0	HERC6	89553292	0.942000	0.31987	0.621000	0.29145	0.856000	0.48823	2.288000	0.43514	1.214000	0.43395	0.585000	0.79938	CCA	HERC6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363261.1		+	ENST00000380265.5	Missense_Mutation	SNP	4 : 89334269 - 89334269 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	1040	7
HGFAC	3083	broad.mit.edu	37	4	3449269	3449269	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:3449269G>A	ENST00000382774.3	+	11	1521	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	HGFAC_ENST00000511533.1_Missense_Mutation_p.R476H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	469	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTCTTCAACCGCACGACGGAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	147	154			NA	NA	4		NA											NA				3449269		2203	4300	6503	SO:0001583	missense			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3083	3083	3.4.21.-		4894	protein-coding gene	gene with protein product		604552			NA	7683665, 8226803	Standard		XM_005247966	NA	Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1406G>A	4.37:g.3449269G>A	ENSP00000372224:p.Arg469His	NA	Q14726|Q2M1W7|Q53X47	37	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726303	0.30593	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88818	-2.43;-2.43	3.59	-4.04	0.04010	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.403240	0.04595	N	0.397497	T	0.74943	0.3783	N	0.16098	0.37	0.09310	N	1	P;B	0.48589	0.912;0.147	B;B	0.41691	0.364;0.058	T	0.68401	-0.5418	10	0.36615	T	0.2	.	0.6507	0.00826	0.3713:0.1218:0.2609:0.2459	.	476;469	D6RAR4;Q04756	.;HGFA_HUMAN	H	469;476	ENSP00000372224:R469H;ENSP00000421801:R476H	ENSP00000372224:R469H	R	+	2	0	HGFAC	3419067	0.000000	0.05858	0.008000	0.14137	0.772000	0.43724	-1.195000	0.03043	-0.717000	0.04955	0.561000	0.74099	CGC	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206607.3		+	ENST00000382774.3	Missense_Mutation	SNP	4 : 3449269 - 3449269 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	896	6
HRASLS5	117245	broad.mit.edu	37	11	63257751	63257751	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:63257751G>A	ENST00000539221.1	-	2	366	c.233C>T	c.(232-234)cCg>cTg	p.P78L	HRASLS5_ENST00000301790.4_Missense_Mutation_p.P78L|HRASLS5_ENST00000540857.1_Missense_Mutation_p.P68L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	78										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAATGTGCCCGGCGGAGGCTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	208	200			NA	NA	11		NA											NA				63257751		2201	4298	6499	SO:0001583	missense			AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004	117245	117245			24978	protein-coding gene	gene with protein product		611474			NA		Standard	NM_054108	NM_001146729	NA	Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000539221.1:c.233C>T	11.37:g.63257751G>A	ENSP00000443873:p.Pro78Leu	NA		37	CCDS53647.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.114974	0.20795	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.26373	1.74;2.24;1.75	3.67	-1.79	0.07932	.	2.087150	0.02276	N	0.068944	T	0.13884	0.0336	N	0.14661	0.345	0.09310	N	1	B;P;B	0.41673	0.041;0.759;0.056	B;B;B	0.28305	0.016;0.088;0.019	T	0.38067	-0.9678	10	0.51188	T	0.08	-2.3493	10.9222	0.47171	0.0:0.0:0.5125:0.4875	.	78;68;78	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	68;78;78	ENSP00000444809:P68L;ENSP00000443873:P78L;ENSP00000301790:P78L	ENSP00000301790:P78L	P	-	2	0	HRASLS5	63014327	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.368000	0.07543	-0.331000	0.08501	-1.142000	0.01873	CCG	HRASLS5-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396374.1		-	ENST00000539221.1	Missense_Mutation	SNP	11 : 63257751 - 63257751 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	1595	456
ITGB1BP1	9270	broad.mit.edu	37	2	9547660	9547660	+	Missense_Mutation	SNP	G	G	A	rs17850889	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:9547660G>A	ENST00000488451.1	-	6	635				ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000360635.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	NA					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GCTTTTTCCCGCCCCCAGACC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	164	138	147		449,	5.6	1	2	dbSNP_123	147	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	ITGB1BP1	NM_004763.3,NM_022334.3	64,	0,3,6500	AA,AG,GG	NA	0.0116,0.0454,0.0231	possibly-damaging,	150/201,	9547660	3,13003	2203	4300	6503	SO:0001627	intron_variant			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185	9270	9270			23927	protein-coding gene	gene with protein product	integrin cytoplasmic domain-associated protein 1, integrin cytoplasmic domain-associated protein 1-beta, integrin cytoplasmic domain-associated protein 1-alpha, bodenin	607153			NA	11854171, 9281591	Standard	NM_004763, NM_022334	NM_004763	NA	Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000488451.1:c.381+581C>T	2.37:g.9547660G>A		NA	D6W4Y9|O14714|Q53RS0	37	CCDS1663.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278080	0.95459	4.54E-4	1.16E-4	ENSG00000119185	ENST00000360635;ENST00000355346;ENST00000359712;ENST00000456913	.	.	.	5.61	5.61	0.85477	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	N	0.24115	0.695	0.80722	D	1	D;D;P	0.71674	0.998;0.99;0.944	P;P;P	0.55011	0.766;0.688;0.507	T	0.57159	-0.7859	9	0.36615	T	0.2	-23.8728	20.0086	0.97443	0.0:0.0:1.0:0.0	rs17850889	106;150;150	B4DQY5;A8MPU2;O14713	.;.;ITBP1_HUMAN	V	150	.	ENSP00000347504:A150V	A	-	2	0	ITGB1BP1	9465111	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	6.824000	0.75288	2.808000	0.96608	0.655000	0.94253	GCG	ITGB1BP1-009	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353317.1		-	ENST00000488451.1	Intron	SNP	2 : 9547660 - 9547660 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	221	95
KIRREL	55243	broad.mit.edu	37	1	158063228	158063228	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:158063228G>A	ENST00000368172.1	+	8	1025	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	KIRREL_ENST00000392272.2_Missense_Mutation_p.R421H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R424H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R360H|KIRREL_ENST00000359209.6_Missense_Mutation_p.R524H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R540H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	524	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACCGGCGCCGCAAAGGCAGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	111	112			NA	NA	1		NA											NA				158063228		2203	4300	6503	SO:0001583	missense			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853	55243	55243		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15734	protein-coding gene	gene with protein product	nephrin-like protein 1	607428			NA	12424224	Standard	NM_018240	NM_001286349	NA	Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000368172.1:c.1013G>A	1.37:g.158063228G>A	ENSP00000357154:p.Arg338His	NA	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	37		.	.	.	.	.	.	.	.	.	.	G	24.6	4.549450	0.86127	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71698	0.36;-0.59;0.02;-0.23;-0.12;0.22	5.61	4.67	0.58626	.	0.000000	0.43260	D	0.000589	T	0.71333	0.3327	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.964;0.998;0.996;0.996	T	0.74999	-0.3472	10	0.52906	T	0.07	-22.3545	14.06	0.64793	0.0:0.1523:0.8477:0.0	.	424;360;338;524	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	360;540;421;524;424;338	ENSP00000353202:R360H;ENSP00000357155:R540H;ENSP00000376098:R421H;ENSP00000352138:R524H;ENSP00000389674:R424H;ENSP00000357154:R338H	ENSP00000352138:R524H	R	+	2	0	KIRREL	156329852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.163000	0.94750	1.303000	0.44873	0.491000	0.48974	CGC	KIRREL-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000058344.2		+	ENST00000368172.1	Missense_Mutation	SNP	1 : 158063228 - 158063228 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	348	5
KPTN	11133	broad.mit.edu	37	19	47986554	47986554	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:47986554G>A	ENST00000338134.3	-	3	499	c.392C>T	c.(391-393)gCc>gTc	p.A131V	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	131					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCACTCACGGGCAATAGAGTC	0.617		NA									OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	130	126			NA	NA	19		NA											NA				47986554		2086	4201	6287	SO:0001583	missense			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162	11133	11133			6404	protein-coding gene	gene with protein product		615620	kaptin (actin-binding protein)		NA	10099934	Standard		XM_005258467	NA	Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.392C>T	19.37:g.47986554G>A	ENSP00000337850:p.Ala131Val	951	B3KN86|Q96GT1	37	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458714	0.96240	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84270	0.0488	9	0.72032	D	0.01	-25.3185	16.3782	0.83418	0.0:0.0:1.0:0.0	.	131	Q9Y664	KPTN_HUMAN	V	131	.	ENSP00000337850:A131V	A	-	2	0	KPTN	52678366	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.893000	0.92498	2.214000	0.71695	0.491000	0.48974	GCC	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466672.2		-	ENST00000338134.3	Missense_Mutation	SNP	19 : 47986554 - 47986554 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	483	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	427	131
KRIT1	889	broad.mit.edu	37	7	91865794	91865794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:91865794G>A	ENST00000340022.2	-	7	1436	c.418C>T	c.(418-420)Cga>Tga	p.R140*	KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	140					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	p.R140*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGACTCGCATAATATCT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	large_intestine(1)											99	104	102			NA	NA	7		NA											NA				91865794		2203	4299	6502	SO:0001587	stop_gained			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631	889	889		Ankyrin repeat domain containing	1573	protein-coding gene	gene with protein product		604214	cerebral cavernous malformations 1	CCM1	NA	7604043, 11342228	Standard		NM_194455	NA	Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.418C>T	7.37:g.91865794G>A	ENSP00000344668:p.Arg140*	NA	O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	38	7.271354	0.98179	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	0.483	0.16820	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7004	15.7344	0.77831	0.0:0.0:0.2068:0.7932	.	.	.	.	X	140	.	ENSP00000344668:R140X	R	-	1	2	KRIT1	91703730	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.282000	0.33226	0.065000	0.16485	-0.238000	0.12139	CGA	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253910.1		-	ENST00000340022.2	Nonsense_Mutation	SNP	7 : 91865794 - 91865794 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	368	111
MAB21L1	4081	broad.mit.edu	37	13	36049899	36049899	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:36049899C>T	ENST00000379919.4	-	1	933	c.377G>A	c.(376-378)cGc>cAc	p.R126H	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	126					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCGGATTTTGCGCGCCGAGAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	13		NA											NA				36049899		2203	4300	6503	SO:0001583	missense			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660	4081	4081			6757	protein-coding gene	gene with protein product		601280	mab-21 (C. elegans)-like 1		NA	8733127	Standard	NM_005584	NM_005584	NA	Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.377G>A	13.37:g.36049899C>T	ENSP00000369251:p.Arg126His	NA	Q6I9T5	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533938	0.85812	.	.	ENSG00000180660	ENST00000379919	T	0.08634	3.07	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06679	-1.0813	10	0.46703	T	0.11	-0.3257	19.7375	0.96212	0.0:1.0:0.0:0.0	.	126	Q13394	MB211_HUMAN	H	126	ENSP00000369251:R126H	ENSP00000369251:R126H	R	-	2	0	MAB21L1	34947899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	CGC	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044459.3		-	ENST00000379919.4	Missense_Mutation	SNP	13 : 36049899 - 36049899 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	167	4
MOSPD3	64598	broad.mit.edu	37	7	100211247	100211247	+	Silent	SNP	G	G	A	rs5886124		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:100211247G>A	ENST00000393950.2	+	3	711	c.429G>A	c.(427-429)gaG>gaA	p.E143E	MOSPD3_ENST00000223054.4_Silent_p.E143E|MOSPD3_ENST00000424091.2_Silent_p.E133E|MOSPD3_ENST00000379527.2_Silent_p.E143E	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	143	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCCCCTTGAGCTTCAGGGAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	54	55			NA	NA	7		NA											NA				100211247		2203	4300	6503	SO:0001819	synonymous_variant			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330	64598	64598			25078	protein-coding gene	gene with protein product		609125			NA	15533722	Standard	NM_023948	XM_005250531	NA	Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.429G>A	7.37:g.100211247G>A		NA	A4D2D1|A6NG17|D6W5W1|O75423|O75424	37	CCDS5701.1																																																																																			MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356395.1		+	ENST00000393950.2	Silent	SNP	7 : 100211247 - 100211247 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	355	22
MTUS2	23281	broad.mit.edu	37	13	29600312	29600312	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:29600312C>T	ENST00000431530.3	+	1	1565	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	493						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCAAAGTGGCCGCTCAGAAGC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	84	83			NA	NA	13		NA											NA				29600312		1973	4142	6115	SO:0001583	missense			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938	23281	23281			20595	protein-coding gene	gene with protein product	+TIP of 150 kDa, cardiac zipper protein		KIAA0774	KIAA0774	NA	19543227	Standard	XM_166270	NM_001033602	NA	Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1507C>T	13.37:g.29600312C>T	ENSP00000392057:p.Arg503Cys	NA	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.130528	0.37630	.	.	ENSG00000132938	ENST00000431530	T	0.12039	2.72	5.92	-8.99	0.00751	.	1.333950	0.04700	N	0.415575	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	9	.	.	.	.	5.915	0.19050	0.1411:0.5246:0.2381:0.0962	.	493	Q5JR59	MTUS2_HUMAN	C	503	ENSP00000392057:R503C	.	R	+	1	0	MTUS2	28498312	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.104000	0.10923	-0.703000	0.05049	-1.283000	0.01379	CGC	MTUS2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044336.3		+	ENST00000431530.3	Missense_Mutation	SNP	13 : 29600312 - 29600312 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	215	44
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:248685648G>A	ENST00000343414.4	+	1	733	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	101	104	103		701	2.9	0	1		103	1,8599		0,1,4299	no	missense	OR2G6	NM_001013355.1	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	234/317	248685648	1,13005	2203	4300	6503	SO:0001583	missense				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558	391211	391211		GPCR / Class A : Olfactory receptors	27019	protein-coding gene	gene with protein product					NA		Standard	XM_372842	NM_001013355	NA	Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.701G>A	1.37:g.248685648G>A	ENSP00000341291:p.Arg234His	NA	B2RP33	37	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.29	1.596315	0.28445	0.0	1.16E-4	ENSG00000188558	ENST00000343414	T	0.00333	8.07	3.83	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	U	0.000372	T	0.00875	0.0029	M	0.91872	3.25	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.19128	-1.0315	10	0.87932	D	0	.	10.4637	0.44594	0.1003:0.0:0.8997:0.0	.	234	Q5TZ20	OR2G6_HUMAN	H	234	ENSP00000341291:R234H	ENSP00000341291:R234H	R	+	2	0	OR2G6	246752271	0.012000	0.17670	0.001000	0.08648	0.108000	0.19459	1.615000	0.36922	0.810000	0.34279	0.400000	0.26472	CGC	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097358.1		+	ENST00000343414.4	Missense_Mutation	SNP	1 : 248685648 - 248685648 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	543	5
OR8I2	120586	broad.mit.edu	37	11	55861306	55861306	+	Missense_Mutation	SNP	C	C	A	rs148514357	by1000genomes	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:55861306C>A	ENST00000302124.2	+	1	554	c.523C>A	c.(523-525)Cat>Aat	p.H175N		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CAGCATCAATCATTTTTTTTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	148	151			NA	NA	11		NA											NA				55861306		2201	4296	6497	SO:0001583	missense			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154	120586	120586		GPCR / Class A : Olfactory receptors	15310	protein-coding gene	gene with protein product					NA		Standard	NM_001003750	NM_001003750	NA	Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.523C>A	11.37:g.55861306C>A	ENSP00000303864:p.His175Asn	NA	B2RNN4|Q6IFC0|Q96RC5	37	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820045	0.50633	.	.	ENSG00000172154	ENST00000302124	T	0.00164	8.64	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000848	T	0.00300	0.0009	M	0.84156	2.68	0.34928	D	0.74909	B	0.30634	0.288	B	0.35688	0.208	T	0.60831	-0.7185	10	0.72032	D	0.01	-15.4428	16.2092	0.82147	0.0:1.0:0.0:0.0	.	175	Q8N0Y5	OR8I2_HUMAN	N	175	ENSP00000303864:H175N	ENSP00000303864:H175N	H	+	1	0	OR8I2	55617882	0.998000	0.40836	0.998000	0.56505	0.285000	0.27093	2.855000	0.48333	2.115000	0.64714	0.440000	0.28878	CAT	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000302124.2	Missense_Mutation	SNP	11 : 55861306 - 55861306 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	653	34
OSMR	9180	broad.mit.edu	37	5	38881767	38881767	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:38881767T>C	ENST00000274276.3	+	4	721	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R	OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	107					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCCTTTGGAATGTGCCACACA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	109	110			NA	NA	5		NA											NA				38881767		2203	4300	6503	SO:0001583	missense			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623	9180	9180		Fibronectin type III domain containing	8507	protein-coding gene	gene with protein product		601743			NA	8999038	Standard	NM_003999	NM_001168355	NA	Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.319T>C	5.37:g.38881767T>C	ENSP00000274276:p.Cys107Arg	NA	Q6P4E8|Q96QJ6	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215522	0.58452	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64085	-0.08;-0.08	5.81	5.81	0.92471	.	0.098018	0.85682	D	0.000000	T	0.77948	0.4207	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80571	-0.1323	10	0.87932	D	0	.	12.5437	0.56186	0.0:0.0:0.0:1.0	.	107;107	Q99650;Q99650-2	OSMR_HUMAN;.	R	107	ENSP00000422023:C107R;ENSP00000274276:C107R	ENSP00000274276:C107R	C	+	1	0	OSMR	38917524	1.000000	0.71417	0.998000	0.56505	0.409000	0.31022	4.331000	0.59273	2.216000	0.71823	0.533000	0.62120	TGT	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207609.2		+	ENST00000274276.3	Missense_Mutation	SNP	5 : 38881767 - 38881767 C PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	487	114
PCDHGA10	56106	broad.mit.edu	37	5	140794655	140794655	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:140794655A>G	ENST00000398610.2	+	1	1913	c.1913A>G	c.(1912-1914)gAc>gGc	p.D638G	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)			GCCCTGCTGGACAGAGACGCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	59	56			NA	NA	5		NA											NA				140794655		2203	4295	6498	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.1913A>G	5.37:g.140794655A>G	ENSP00000381611:p.Asp638Gly	NA		37	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	a	17.83	3.486542	0.63962	.	.	ENSG00000253846	ENST00000398610	T	0.65178	-0.14	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75882	0.3910	M	0.64404	1.975	0.31302	N	0.688228	D;D	0.59767	0.973;0.986	P;D	0.65573	0.786;0.936	T	0.78705	-0.2100	9	0.72032	D	0.01	.	15.1502	0.72692	1.0:0.0:0.0:0.0	.	638;638	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	G	638	ENSP00000381611:D638G	ENSP00000381611:D638G	D	+	2	0	PCDHGA10	140774839	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.721000	0.61951	2.061000	0.61500	0.454000	0.30748	GAC	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374747.1		+	ENST00000398610.2	Missense_Mutation	SNP	5 : 140794655 - 140794655 G PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	523	59
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	94	97			NA	NA	X		NA											NA				19369427		2203	4300	6503	SO:0001583	missense				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	5160	5160	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA	NA		Standard		NM_001173454	NA	Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp	NA	Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055977.1		+	ENST00000422285.2	Missense_Mutation	SNP	X : 19369427 - 19369427 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	626	5
PPP1R3C	5507	broad.mit.edu	37	10	93389892	93389892	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:93389892T>C	ENST00000238994.5	-	2	830	c.746A>G	c.(745-747)aAt>aGt	p.N249S		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	249	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CTGACCATCATTGTTGTCCCA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	94	98			NA	NA	10		NA											NA				93389892		2203	4300	6503	SO:0001583	missense			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938	5507	5507		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	9293	protein-coding gene	gene with protein product	Phosphatase 1, regulatory inhibitor subunit 5, protein targeting to glycogen	602999	protein phosphatase 1, regulatory (inhibitor) subunit 3C	PPP1R5	NA	8985175	Standard	NM_005398	NM_005398	NA	Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.746A>G	10.37:g.93389892T>C	ENSP00000238994:p.Asn249Ser	NA	B2R7X0|O95686	37	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.270056	0.59540	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.76316	-1.01	5.73	3.31	0.37934	Putative phosphatase regulatory subunit (2);	0.049016	0.85682	D	0.000000	D	0.90689	0.7079	H	0.97491	4.015	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.90361	0.4373	10	0.87932	D	0	-21.2088	8.006	0.30325	0.121:0.0672:0.0:0.8117	.	249	Q9UQK1	PPR3C_HUMAN	S	249;229;131	ENSP00000238994:N249S	ENSP00000238994:N249S	N	-	2	0	PPP1R3C	93379872	1.000000	0.71417	0.882000	0.34594	0.884000	0.51177	6.240000	0.72363	0.954000	0.37851	0.533000	0.62120	AAT	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049372.1		-	ENST00000238994.5	Missense_Mutation	SNP	10 : 93389892 - 93389892 C PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	475	126
PRPF38A	84950	broad.mit.edu	37	1	52870463	52870463	+	Silent	SNP	C	C	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:52870463C>G	ENST00000257181.9	+	1	228	c.42C>G	c.(40-42)ggC>ggG	p.G14G	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	14					mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GCATCCATGGCACCAACCCTC	0.463		NA									OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	97	100			NA	NA	1		NA											NA				52870463		2203	4300	6503	SO:0001819	synonymous_variant			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748	84950	84950			25930	protein-coding gene	gene with protein product			PRP38 pre-mRNA processing factor 38 (yeast) domain containing A		NA	12477932	Standard	NM_032864	NM_032864	NA	Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.42C>G	1.37:g.52870463C>G		988	Q96JW1|Q9BVZ8	37	CCDS567.1																																																																																			PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022459.2		+	ENST00000257181.9	Silent	SNP	1 : 52870463 - 52870463 G PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	414	50
PTPRF	5792	broad.mit.edu	37	1	44064491	44064491	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:44064491G>A	ENST00000359947.4	+	13	2560	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	PTPRF_ENST00000422171.2_Silent_p.Q97Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000438120.1_Silent_p.Q740Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	740	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCATGGCCAGATCCGCGGCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	55	58			NA	NA	1		NA											NA				44064491		2203	4300	6503	SO:0001819	synonymous_variant			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949	5792	5792		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9670	protein-coding gene	gene with protein product		179590		LAR	NA	7558042	Standard		NM_130440	NA	Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2220G>A	1.37:g.44064491G>A		NA	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.913|8.913	0.959151|0.959151	0.18507|0.18507	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.58308|0.58308	0.2113|0.2113	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56062|0.56062	-0.8041|-0.8041	4|4	.|.	.|.	.|.	.|.	8.5321|8.5321	0.33340|0.33340	0.1759:0.0:0.8241:0.0|0.1759:0.0:0.8241:0.0	.|.	.|.	.|.	.|.	N|K	306;163|397	.|.	.|.	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43837078|43837078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.815000|1.815000	0.38981|0.38981	2.143000|2.143000	0.66587|0.66587	0.449000|0.449000	0.29647|0.29647	GAT|AGA	PTPRF-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019710.1		+	ENST00000359947.4	Silent	SNP	1 : 44064491 - 44064491 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	243	40
RPL19	6143	broad.mit.edu	37	17	37360818	37360818	+	Missense_Mutation	SNP	C	C	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:37360818C>G	ENST00000579260.1	+	6	905	c.502C>G	c.(502-504)Cgc>Ggc	p.R168G	RPL19_ENST00000225430.4_Missense_Mutation_p.R170G|RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000582193.1_Missense_Mutation_p.R168G			P84098	RL19_HUMAN	ribosomal protein L19	170					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CAAGGAAGCACGCAAGCGCCG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	81	79			NA	NA	17		NA											NA				37360818		1925	4125	6050	SO:0001583	missense				CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298	6143	6143		L ribosomal proteins	10312	protein-coding gene	gene with protein product	60S ribosomal protein L19, ribosomal protein L19, cytosolic, N-terminus truncated	180466			NA	1577483	Standard	NM_000981	XM_005257564	NA	Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000579260.1:c.502C>G	17.37:g.37360818C>G	ENSP00000464538:p.Arg168Gly	NA	B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	37		.	.	.	.	.	.	.	.	.	.	c	16.59	3.165415	0.57476	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.33	4.37	0.52481	.	0.059366	0.64402	D	0.000004	T	0.72415	0.3457	M	0.93197	3.39	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73132	-0.4079	9	0.72032	D	0.01	.	8.6764	0.34181	0.1508:0.7734:0.0:0.0758	.	170	P84098	RL19_HUMAN	G	170	.	ENSP00000225430:R170G	R	+	1	0	RPL19	34614344	0.998000	0.40836	0.938000	0.37757	0.980000	0.70556	3.717000	0.54911	1.257000	0.44085	0.563000	0.77884	CGC	RPL19-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000444191.1		+	ENST00000579260.1	Missense_Mutation	SNP	17 : 37360818 - 37360818 G PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	476	7
SLC14A2	8170	broad.mit.edu	37	18	43246996	43246996	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr18:43246996A>G	ENST00000255226.6	+	13	2470	c.1654A>G	c.(1654-1656)Agg>Ggg	p.R552G	SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	552						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGGGAAAAGGGTCAGCAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	84	87			NA	NA	18		NA											NA				43246996		2203	4300	6503	SO:0001583	missense			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874	8170	8170		Solute carriers	10919	protein-coding gene	gene with protein product		601611			NA	8647271	Standard		NM_007163	NA	Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1654A>G	18.37:g.43246996A>G	ENSP00000255226:p.Arg552Gly	NA	A8K8Q7|Q2TBD6|Q96PH5	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	6.688	0.495556	0.12762	.	.	ENSG00000132874	ENST00000255226	T	0.36699	1.24	4.37	4.37	0.52481	.	0.340286	0.24960	N	0.034236	T	0.31544	0.0800	L	0.50333	1.59	0.32344	N	0.559296	B	0.12630	0.006	B	0.20955	0.032	T	0.34950	-0.9808	10	0.38643	T	0.18	-7.2644	9.2009	0.37258	0.8181:0.1819:0.0:0.0	.	552	Q15849	UT2_HUMAN	G	552	ENSP00000255226:R552G	ENSP00000255226:R552G	R	+	1	2	SLC14A2	41500994	0.038000	0.19896	0.307000	0.25127	0.095000	0.18619	0.812000	0.27211	1.827000	0.53221	0.533000	0.62120	AGG	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255858.1		+	ENST00000255226.6	Missense_Mutation	SNP	18 : 43246996 - 43246996 G PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	132	4
SLCO5A1	81796	broad.mit.edu	37	8	70744099	70744099	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:70744099C>T	ENST00000524945.1	-	1	1526	c.810G>A	c.(808-810)gcG>gcA	p.A270A	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.A270A|SLCO5A1_ENST00000260126.4_Silent_p.A270A	NM_001146008.1	NP_001139480.1	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	270						integral to membrane|plasma membrane	transporter activity	p.A270A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGAGAATCTGCGCGCAAATGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											104	105	105			NA	NA	8		NA											NA				70744099		2203	4300	6503	SO:0001819	synonymous_variant			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571	81796	81796		Solute carriers	19046	protein-coding gene	gene with protein product		613543	solute carrier family 21 (organic anion transporter), member 15	SLC21A15	NA	12507753	Standard	NM_030958	NM_030958	NA	Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000524945.1:c.810G>A	8.37:g.70744099C>T		NA	B2RPF7	37	CCDS55243.1																																																																																			SLCO5A1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381991.1		-	ENST00000524945.1	Silent	SNP	8 : 70744099 - 70744099 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	396	7
SMARCAD1	56916	broad.mit.edu	37	4	95198287	95198287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:95198287C>T	ENST00000509418.1	+	8	1156	c.769C>T	c.(769-771)Cga>Tga	p.R257*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R687*|SMARCAD1_ENST00000354268.4_Nonsense_Mutation_p.R687*	NM_001254949.1	NP_001241878.1	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	687	CUE 2.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGTGAAATACGAAGAATGTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													171	166	168			NA	NA	4		NA											NA				95198287		2203	4300	6503	SO:0001587	stop_gained			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104	56916	56916			18398	protein-coding gene	gene with protein product		612761			NA	11031099	Standard	NM_020159	NM_001128430	NA	Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000509418.1:c.769C>T	4.37:g.95198287C>T	ENSP00000423286:p.Arg257*	NA	Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	37	CCDS58914.1	.	.	.	.	.	.	.	.	.	.	C	37	6.495917	0.97612	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.52	4.6	0.57074	.	0.000000	0.38381	N	0.001702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.8402	15.1831	0.72975	0.2325:0.7675:0.0:0.0	.	.	.	.	X	687;687;687;257	.	ENSP00000346217:R687X	R	+	1	2	SMARCAD1	95417310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.153000	0.42282	2.604000	0.88044	0.555000	0.69702	CGA	SMARCAD1-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362981.2		+	ENST00000509418.1	Nonsense_Mutation	SNP	4 : 95198287 - 95198287 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	735	5
TENM1	10178	broad.mit.edu	37	X	123695525	123695525	+	Silent	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:123695525A>G	ENST00000371130.3	-	14	2493	c.2430T>C	c.(2428-2430)gaT>gaC	p.D810D	TENM1_ENST00000422452.2_Silent_p.D810D	NM_014253.3	NP_055068.2			teneurin transmembrane protein 1	NA											NA						ACTCACCTCCATCATTGTCCA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	149	159			NA	NA	X		NA											NA				123695525		2203	4300	6503	SO:0001819	synonymous_variant			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694	10178	10178			8117	protein-coding gene	gene with protein product		300588	tenascin M, odz, odd Oz/ten-m homolog 1 (Drosophila)	ODZ3, TNM, ODZ1	NA	10331952, 10341219	Standard	NM_014253	NM_001163278	NA	Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2430T>C	X.37:g.123695525A>G		NA		37	CCDS14609.1																																																																																			TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058985.1		-	ENST00000371130.3	Silent	SNP	X : 123695525 - 123695525 G PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	847	11
TENM1	10178	broad.mit.edu	37	X	123514928	123514928	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:123514928C>T	ENST00000371130.3	-	31	7699	c.7636G>A	c.(7636-7638)Gat>Aat	p.D2546N	TENM1_ENST00000422452.2_Missense_Mutation_p.D2553N|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2			teneurin transmembrane protein 1	NA											NA						CGCCTGCTATCTTCATTGGCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	73			NA	NA	X		NA											NA				123514928		2203	4300	6503	SO:0001583	missense			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694	10178	10178			8117	protein-coding gene	gene with protein product		300588	tenascin M, odz, odd Oz/ten-m homolog 1 (Drosophila)	ODZ3, TNM, ODZ1	NA	10331952, 10341219	Standard	NM_014253	NM_001163278	NA	Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7636G>A	X.37:g.123514928C>T	ENSP00000360171:p.Asp2546Asn	NA		37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266557	0.80358	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86366	-2.11;-2.07	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.989;0.996;0.998	D	0.93438	0.6791	10	0.56958	D	0.05	.	19.0991	0.93266	0.0:1.0:0.0:0.0	.	2552;2553;2546	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	2546;2553	ENSP00000360171:D2546N;ENSP00000403954:D2553N	ENSP00000360171:D2546N	D	-	1	0	ODZ1	123342609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.460000	0.83146	0.600000	0.82982	GAT	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058985.1		-	ENST00000371130.3	Missense_Mutation	SNP	X : 123514928 - 123514928 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	559	13
TFDP1	7027	broad.mit.edu	37	13	114265370	114265370	+	Silent	SNP	C	C	T	rs144432965	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:114265370C>T	ENST00000375370.5	+	3	284	c.72C>T	c.(70-72)ccC>ccT	p.P24P	TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	24					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACCTTAGTCCCGGGAAAGGTA	0.443		NA								TSP Lung(29;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4405	2.1+/-5.4	0,1,2202	155	145	148		72	1.7	1	13	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154		24/411	114265370	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176	7027	7027			11749	protein-coding gene	gene with protein product		189902			NA	8413592, 9027491	Standard	NM_007111	NM_007111	NA	Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.72C>T	13.37:g.114265370C>T		NA	Q5JSB4|Q8IZL5	37	CCDS9538.1																																																																																			TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045918.3		+	ENST00000375370.5	Silent	SNP	13 : 114265370 - 114265370 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	539	128
TSKS	60385	broad.mit.edu	37	19	50243356	50243356	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:50243356G>A	ENST00000246801.3	-	10	1664	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	528							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCTTGGCCCGCAGGGCCTCG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	76	75			NA	NA	19		NA											NA				50243356		2203	4300	6503	SO:0001583	missense			BC058862	CCDS12780.1	19q13.3	2014-06-13					60385	60385			30719	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 161	608253			NA	11444856, 18495105	Standard	NM_021733	NM_021733	NA	Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1582C>T	19.37:g.50243356G>A	ENSP00000246801:p.Arg528Trp	NA	Q8WXJ0	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454044	0.63290	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.49432	0.78;0.78	4.81	3.72	0.42706	.	0.287773	0.24566	N	0.037427	T	0.50309	0.1608	N	0.24115	0.695	0.32826	D	0.50336	D	0.89917	1.0	D	0.72338	0.977	T	0.59663	-0.7412	10	0.87932	D	0	-27.3869	9.3425	0.38089	0.0:0.0:0.7707:0.2293	.	528	Q9UJT2	TSKS_HUMAN	W	528;328	ENSP00000246801:R528W;ENSP00000351691:R328W	ENSP00000246801:R528W	R	-	1	2	TSKS	54935168	0.523000	0.26274	0.989000	0.46669	0.875000	0.50365	2.024000	0.41049	2.490000	0.84030	0.609000	0.83330	CGG	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465795.1		-	ENST00000246801.3	Missense_Mutation	SNP	19 : 50243356 - 50243356 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	393	5
TSPEAR	54084	broad.mit.edu	37	21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr21:45978232T>C	ENST00000397916.1	-	2	258				KRTAP10-3_ENST00000391620.1_Missense_Mutation_p.I123V|TSPEAR_ENST00000323084.4_Intron			Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	NA					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						acacagcagatgggcttgcag	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	164	164			NA	NA	21		NA											NA				45978232		2203	4300	6503	SO:0001627	intron_variant			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894	54084	54084			1268	protein-coding gene	gene with protein product		612920	chromosome 21 open reading frame 29, deafness, autosomal recessive 98	C21orf29, DFNB98	NA	12095917, 22678063	Standard	NM_144991	NM_144991	NA	Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000397916.1:c.99+9436A>G	21.37:g.45978232T>C		NA		37		.	.	.	.	.	.	.	.	.	.	t	0	-2.850393	0.00066	.	.	ENSG00000212935	ENST00000391620	T	0.01209	5.17	3.53	1.68	0.24146	.	.	.	.	.	T	0.00440	0.0014	N	0.00765	-1.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	9	0.02654	T	1	.	7.2709	0.26256	0.0:0.7638:0.0:0.2362	.	123	P60369	KR103_HUMAN	V	123	ENSP00000375478:I123V	ENSP00000375478:I123V	I	-	1	0	KRTAP10-3	44802660	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.913000	0.01580	0.822000	0.34565	-0.232000	0.12228	ATC	TSPEAR-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000195865.1		-	ENST00000397916.1	Intron	SNP	21 : 45978232 - 45978232 C PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	876	9
TTI1	9675	broad.mit.edu	37	20	36640671	36640671	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:36640671C>T	ENST00000373448.2	-	3	1786	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	TTI1_ENST00000449821.1_Silent_p.V516V|TTI1_ENST00000373447.3_Silent_p.V516V|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	516							binding	p.V516V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCGGTAAACCACAGATTGAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											52	55	54			NA	NA	20		NA											NA				36640671		2203	4300	6503	SO:0001819	synonymous_variant			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407	9675	9675			29029	protein-coding gene	gene with protein product	smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)	614425	KIAA0406, Tel2 interacting protein 1 homolog (S. pombe)	KIAA0406	NA	9455477, 20427287, 20371770	Standard	NM_014657	NM_014657	NA	Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1548G>A	20.37:g.36640671C>T		NA	Q5JX67|Q96A38|Q9BR47|Q9H4K0	37	CCDS13300.1																																																																																			TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079138.2		-	ENST00000373448.2	Silent	SNP	20 : 36640671 - 36640671 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	288	68
TTN	7273	broad.mit.edu	37	2	179410378	179410378	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:179410378C>T	ENST00000589042.1	-	344	95683	c.95459G>A	c.(95458-95460)gGc>gAc	p.G31820D	TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G30179D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30179	Fibronectin type-III 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTCTTTGCCAGTCCCAAC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	186	189			NA	NA	2		NA											NA				179410378		1960	4155	6115	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.95459G>A	2.37:g.179410378C>T	ENSP00000467141:p.Gly31820Asp	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615238	0.66672	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.82	5.82	0.92795	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64034	0.2562	N	0.25957	0.775	0.53005	D	0.999965	D;D;D;D	0.60160	0.987;0.987;0.987;0.987	P;P;P;P	0.58620	0.842;0.842;0.842;0.842	T	0.66787	-0.5835	9	0.87932	D	0	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	22755;22880;22947;30179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	29252;22755;22947;22880;22752	ENSP00000343764:G29252D;ENSP00000434586:G22755D;ENSP00000340554:G22947D;ENSP00000352154:G22880D	ENSP00000340554:G22947D	G	-	2	0	TTN	179118624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.089000	0.71384	2.756000	0.94617	0.563000	0.77884	GGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179410378 - 179410378 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	832	7
UROC1	131669	broad.mit.edu	37	3	126218205	126218205	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:126218205G>T	ENST00000290868.2	-	13	1344	c.1291C>A	c.(1291-1293)Cct>Act	p.P431T	UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	431					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACATAGGAAGGGTAGCGGAAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	75	88			NA	NA	3		NA											NA				126218205		2203	4300	6503	SO:0001583	missense			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	131669	131669	4.2.1.49		26444	protein-coding gene	gene with protein product	urocanase 1	613012	urocanase domain containing 1		NA	19304569	Standard	NM_144639	NM_144639	NA	Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1291C>A	3.37:g.126218205G>T	ENSP00000290868:p.Pro431Thr	NA	Q14C64	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583912	0.65992	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.64438	-0.1;-0.1	4.89	4.89	0.63831	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90105	0.4187	10	0.72032	D	0.01	0.5184	15.5628	0.76262	0.0:0.0:1.0:0.0	.	491;431	E9PE13;Q96N76	.;HUTU_HUMAN	T	431;491	ENSP00000290868:P431T;ENSP00000373073:P491T	ENSP00000290868:P431T	P	-	1	0	UROC1	127700895	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.216000	0.95154	2.262000	0.75019	0.585000	0.79938	CCT	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370325.2		-	ENST00000290868.2	Missense_Mutation	SNP	3 : 126218205 - 126218205 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	156	31
USP7	7874	broad.mit.edu	37	16	8988948	8988948	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:8988948C>T	ENST00000344836.4	-	28	3177	c.2979G>A	c.(2977-2979)gcG>gcA	p.A993A	USP7_ENST00000381886.4_Silent_p.A977A|USP7_ENST00000535863.1_Silent_p.A894A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	993					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A993A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTGGAAATGCGCCACTGTGA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											266	247	254			NA	NA	16		NA											NA				8988948		2197	4300	6497	SO:0001819	synonymous_variant			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555	7874	7874		Ubiquitin-specific peptidases	12630	protein-coding gene	gene with protein product		602519	ubiquitin specific protease 7 (herpes virus-associated)	HAUSP	NA	12838346, 9925944	Standard		NM_003470	NA	Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2979G>A	16.37:g.8988948C>T		NA	A6NMY8	37	CCDS32385.1																																																																																			USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434268.2		-	ENST00000344836.4	Silent	SNP	16 : 8988948 - 8988948 T PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	1247	7
ZFAND2A	90637	broad.mit.edu	37	7	1195155	1195155	+	Silent	SNP	T	T	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:1195155T>A	ENST00000401903.1	-	4	475	c.216A>T	c.(214-216)ccA>ccT	p.P72P	ZFAND2A_ENST00000316495.3_Silent_p.P72P			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	72						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCACCACGTCTGGTATCTGGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													181	169	173			NA	NA	7		NA											NA				1195155		2203	4300	6503	SO:0001819	synonymous_variant			BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381	90637	90637		Zinc fingers, AN1-type domain containing	28073	protein-coding gene	gene with protein product	arsenite inducible RNA associated protein	610699			NA	20185824	Standard	NM_182491	NM_182491	NA	Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000401903.1:c.216A>T	7.37:g.1195155T>A		NA	A4D220	37																																																																																				ZFAND2A-005	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000322845.1		-	ENST00000401903.1	Silent	SNP	7 : 1195155 - 1195155 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	570	154
ZFP69	339559	broad.mit.edu	37	1	40945109	40945109	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:40945109G>A	ENST00000372706.1	+	2	1082	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	ZFP69_ENST00000372705.3_Missense_Mutation_p.V26M					ZFP69 zinc finger protein	NA											NA						AAAGAAGGCCGTGGAGGGGGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	49			NA	NA	1		NA											NA				40945109		2203	4300	6503	SO:0001583	missense			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815	339559	339559		Zinc fingers, C2H2-type, -, -, -	24708	protein-coding gene	gene with protein product	ZFP69 zinc finger protein A		zinc finger protein 642	ZNF642	NA		Standard	NM_198494	XM_005270808	NA	Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.76G>A	1.37:g.40945109G>A	ENSP00000361791:p.Val26Met	NA		37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	5.567	0.289429	0.10567	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05649	3.41;3.41	4.35	0.72	0.18214	.	0.964602	0.08443	N	0.945143	T	0.03739	0.0106	N	0.14661	0.345	0.19300	N	0.999973	B	0.17268	0.021	B	0.04013	0.001	T	0.43702	-0.9375	10	0.51188	T	0.08	.	3.2889	0.06942	0.5663:0.2115:0.2222:0.0	.	26	Q49AA0	ZN642_HUMAN	M	26	ENSP00000361791:V26M;ENSP00000361790:V26M	ENSP00000361790:V26M	V	+	1	0	ZNF642	40717696	0.135000	0.22499	0.800000	0.32199	0.030000	0.12068	0.096000	0.15147	0.261000	0.21753	-0.238000	0.12139	GTG	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019082.1		+	ENST00000372706.1	Missense_Mutation	SNP	1 : 40945109 - 40945109 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	259	9
ZNF687	57592	broad.mit.edu	37	1	151259929	151259929	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:151259929G>A	ENST00000368879.2	+	2	1260	c.1162G>A	c.(1162-1164)Gta>Ata	p.V388I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGGTGAGCGTACAGTTGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	64	67			NA	NA	1		NA											NA				151259929		2203	4300	6503	SO:0001583	missense				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373	57592	57592			29277	protein-coding gene	gene with protein product		610568			NA	10718198	Standard	NM_020832	NM_020832	NA	Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1162G>A	1.37:g.151259929G>A	ENSP00000357874:p.Val388Ile	NA	D3DV17|Q68DQ8|Q9H937|Q9P2A7	37		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613923	0.46631	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.92	5.27	5.27	0.74061	.	0.000000	0.32161	N	0.006495	T	0.01254	0.0041	L	0.44542	1.39	0.23089	N	0.998319	D;P;D	0.76494	0.996;0.954;0.999	P;B;P	0.56514	0.743;0.422;0.8	T	0.58312	-0.7658	9	.	.	.	.	17.8288	0.88674	0.0:0.0:1.0:0.0	.	388;388;388	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	I	388	ENSP00000336620:V388I;ENSP00000319829:V388I;ENSP00000357874:V388I	.	V	+	1	0	ZNF687	149526553	0.997000	0.39634	0.218000	0.23776	0.669000	0.39330	4.051000	0.57412	2.758000	0.94735	0.561000	0.74099	GTA	ZNF687-201	KNOWN	basic	protein_coding	NA	protein_coding			+	ENST00000368879.2	Missense_Mutation	SNP	1 : 151259929 - 151259929 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	277	5
ZNFX1	57169	broad.mit.edu	37	20	47871123	47871123	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:47871123G>A	ENST00000396105.1	-	10	3114	c.2868C>T	c.(2866-2868)taC>taT	p.Y956Y	ZNFX1_ENST00000371752.1_Silent_p.Y956Y|ZNFX1_ENST00000371754.4_Silent_p.Y956Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	956							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGATGTGCGGTACTGGCGTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	162	172			NA	NA	20		NA											NA				47871123		2203	4300	6503	SO:0001819	synonymous_variant			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201	57169	57169			29271	protein-coding gene	gene with protein product					NA	10718198	Standard	NM_021035	NM_021035	NA	Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2868C>T	20.37:g.47871123G>A		NA	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	37	CCDS13417.1																																																																																			ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079647.2		-	ENST00000396105.1	Silent	SNP	20 : 47871123 - 47871123 A PAAD-TCGA-Q3-AA2A-Tumor-SM-5PNP6	644	5
