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
ACTL6A	86	broad.mit.edu	37	3	179291168	179291168	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:179291168G>A	ENST00000429709.2	+	4	502	c.289G>A	c.(289-291)Gat>Aat	p.D97N	ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	97					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGAAGACTGGGATAGTTTCCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	86	86			NA	NA	3		NA											NA				179291168		2203	4300	6503	SO:0001583	missense			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518	86	86		INO80 complex subunits	24124	protein-coding gene	gene with protein product	BAF complex 53 kDa subunit, BRG1-associated factor, actin-related protein 4, INO80 complex subunit K	604958			NA	9845365, 10380635	Standard	NM_004301	NM_004301	NA	Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.289G>A	3.37:g.179291168G>A	ENSP00000397552:p.Asp97Asn	NA	B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	37	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398826	0.96030	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.95853	-3.83;-3.83;-3.83	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.64260	1.97	0.80722	D	1	D	0.52996	0.957	P	0.53954	0.738	D	0.96821	0.9604	10	0.87932	D	0	.	19.2768	0.94034	0.0:0.0:1.0:0.0	.	97	O96019	ACL6A_HUMAN	N	97;55;55	ENSP00000397552:D97N;ENSP00000394014:D55N;ENSP00000376430:D55N	ENSP00000376430:D55N	D	+	1	0	ACTL6A	180773862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.686000	0.98664	2.625000	0.88918	0.555000	0.69702	GAT	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349599.1		+	ENST00000429709.2	Missense_Mutation	SNP	3 : 179291168 - 179291168 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	606	13
ADAMTSL3	57188	broad.mit.edu	37	15	84683327	84683327	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:84683327G>C	ENST00000286744.5	+	24	4231	c.4007G>C	c.(4006-4008)aGa>aCa	p.R1336T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R1336I(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTTGAAGAGAGGAGGATCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											217	190	199			NA	NA	15		NA											NA				84683327		2203	4299	6502	SO:0001583	missense			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218	57188	57188		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	14633	protein-coding gene	gene with protein product		609199			NA	9628581, 10574462	Standard	NM_207517	NM_207517	NA	Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4007G>C	15.37:g.84683327G>C	ENSP00000286744:p.Arg1336Thr	NA	A1A566|A1A567|Q9ULI7	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420685	0.25639	.	.	ENSG00000156218	ENST00000286744	T	0.27402	1.67	4.7	1.68	0.24146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739929	0.11659	N	0.541996	T	0.15696	0.0378	N	0.17082	0.46	0.26572	N	0.973534	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.007	T	0.31280	-0.9949	10	0.22109	T	0.4	.	4.2489	0.10684	0.4199:0.1664:0.4137:0.0	.	1336;1336	P82987-2;P82987	.;ATL3_HUMAN	T	1336	ENSP00000286744:R1336T	ENSP00000286744:R1336T	R	+	2	0	ADAMTSL3	82474331	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.900000	0.28431	0.048000	0.15891	-0.266000	0.10368	AGA	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304007.2		+	ENST00000286744.5	Missense_Mutation	SNP	15 : 84683327 - 84683327 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	768	41
AKAP6	9472	broad.mit.edu	37	14	33291486	33291486	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:33291486C>T	ENST00000280979.4	+	13	4637	c.4467C>T	c.(4465-4467)agC>agT	p.S1489S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1489					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTCACAAAGCGAAAAAGCGC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(49;821 1200 7288 13647 42351)							NA				0								C		1,4405	2.1+/-5.4	0,1,2202	73	70	71		4467	4.6	1	14		71	0,8600		0,0,4300	no	coding-synonymous	AKAP6	NM_004274.4		0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077		1489/2320	33291486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320	9472	9472		A-kinase anchor proteins	376	protein-coding gene	gene with protein product	protein kinase A anchoring protein 6	604691			NA	7721854, 9205841	Standard	NM_004274	NM_004274	NA	Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4467C>T	14.37:g.33291486C>T		NA	A7E2D4|O15028	37	CCDS9644.1																																																																																			AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276617.2		+	ENST00000280979.4	Silent	SNP	14 : 33291486 - 33291486 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	295	93
AKAP9	10142	broad.mit.edu	37	7	91736667	91736667	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:91736667C>A	ENST00000356239.3	+	48	11710	c.11477C>A	c.(11476-11478)cCa>cAa	p.P3826Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q|AKAP9_ENST00000359028.2_Missense_Mutation_p.P3830Q	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3830					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATGGAGAACCAAGACATACT	0.368		NA	T	BRAF	papillary thyroid									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													151	149	149			NA	NA	7		NA											NA				91736667		2203	4300	6503	SO:0001583	missense			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	10142	10142		A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	379	protein-coding gene	gene with protein product	A-kinase anchoring protein 450, AKAP9-BRAF fusion protein, AKAP120-like protein, centrosome- and golgi-localized protein kinase N-associated protein, protein kinase A anchoring protein 9, A-kinase anchor protein, 350kDa, protein phosphatase 1, regulatory subunit 45, yotiao	604001			NA	9482789, 10390370, 24475373	Standard	NM_005751	NM_147185	NA	Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000356239.3:c.11477C>A	7.37:g.91736667C>A	ENSP00000348573:p.Pro3826Gln	NA	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	37	CCDS5622.1	.	.	.	.	.	.	.	.	.	.	C	8.416	0.845249	0.16963	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03301	4.08;4.08;4.06;3.98	5.41	2.32	0.28847	.	0.000000	0.37219	N	0.002189	T	0.01835	0.0058	N	0.02539	-0.55	0.31229	N	0.696541	B;B;B;B;B	0.20671	0.002;0.047;0.028;0.047;0.047	B;B;B;B;B	0.16289	0.004;0.015;0.007;0.015;0.015	T	0.24905	-1.0147	10	0.33141	T	0.24	.	13.1965	0.59740	0.6587:0.3413:0.0:0.0	.	1101;3830;3830;3826;3818	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	Q	3826;3830;3776;3830;1672	ENSP00000348573:P3826Q;ENSP00000351922:P3830Q;ENSP00000350813:P3776Q;ENSP00000378042:P1672Q	ENSP00000348573:P3826Q	P	+	2	0	AKAP9	91574603	0.829000	0.29322	0.985000	0.45067	0.507000	0.33981	1.454000	0.35178	0.813000	0.34350	0.655000	0.94253	CCA	AKAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253808.2		+	ENST00000356239.3	Missense_Mutation	SNP	7 : 91736667 - 91736667 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	755	12
ANKRD24	170961	broad.mit.edu	37	19	4219594	4219594	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:4219594C>T	ENST00000600132.1	+	19	3286	c.3010C>T	c.(3010-3012)Cgt>Tgt	p.R1004C	ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1004										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACAGGTGCAGCGTGAGGCCCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	77	74			NA	NA	19		NA											NA				4219594		2199	4298	6497	SO:0001583	missense			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847	170961	170961		Ankyrin repeat domain containing	29424	protein-coding gene	gene with protein product					NA	11853319	Standard	XM_114000	NM_133475	NA	Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3010C>T	19.37:g.4219594C>T	ENSP00000471252:p.Arg1004Cys	NA	O75268|O95781	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.854693	0.51376	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.37058	1.24;1.22	3.79	-0.142	0.13448	.	.	.	.	.	T	0.41213	0.1149	L	0.27053	0.805	0.41774	D	0.989783	D	0.89917	1.0	D	0.79784	0.993	T	0.23511	-1.0186	9	0.54805	T	0.06	.	9.5198	0.39129	0.5842:0.4158:0.0:0.0	.	1004	Q8TF21	ANR24_HUMAN	C	1004;1094	ENSP00000321731:R1004C;ENSP00000262970:R1094C	ENSP00000262970:R1094C	R	+	1	0	ANKRD24	4170594	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	0.829000	0.27449	-0.035000	0.13691	0.313000	0.20887	CGT	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458188.1		+	ENST00000600132.1	Missense_Mutation	SNP	19 : 4219594 - 4219594 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	764	140
BATF	10538	broad.mit.edu	37	14	75989073	75989073	+	Silent	SNP	T	T	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:75989073T>G	ENST00000286639.6	+	1	306	c.48T>G	c.(46-48)ccT>ccG	p.P16P	BATF_ENST00000555795.1_Intron|BATF_ENST00000555504.1_Silent_p.P16P	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	16						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCGCTCTCCTCCCCCTGGCA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	75	77			NA	NA	14		NA											NA				75989073		2203	4300	6503	SO:0001819	synonymous_variant			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127	10538	10538		basic leucine zipper proteins	958	protein-coding gene	gene with protein product	activating transcription factor B, SF-HT-activated gene 2	612476			NA	8570175, 8630063	Standard	NM_006399	NM_006399	NA	Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.48T>G	14.37:g.75989073T>G		NA		37	CCDS9843.1																																																																																			BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413669.1		+	ENST00000286639.6	Silent	SNP	14 : 75989073 - 75989073 G PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	303	100
BDP1	55814	broad.mit.edu	37	5	70751780	70751798	+	Frame_Shift_Del	DEL	AATCCCCAGCGTGGACGGG	AATCCCCAGCGTGGACGGG	-	rs3748042		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	AATCCCCAGCGTGGACGGG	AATCCCCAGCGTGGACGGG	-	-	AATCCCCAGCGTGGACGGG	AATCCCCAGCGTGGACGGG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:70751780_70751798delAATCCCCAGCGTGGACGGG	ENST00000358731.4	+	1	339_357	c.76_94delAATCCCCAGCGTGGACGGG	c.(76-96)aatccccagcgtggacgggagfs	p.NPQRGRE26fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	26	Interaction with ZBTB43.		N -> S (in dbSNP:rs3748042).		regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CACAGCTTCCAATCCCCAGCGTGGACGGGAGTCTCCCAG	0.68		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734	55814	55814			13652	protein-coding gene	gene with protein product		607012	TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1	TFNR, TAF3B1	NA	11214970, 11040218	Standard	NM_018429	NM_018429	NA	Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.76_94delAATCCCCAGCGTGGACGGG	5.37:g.70751780_70751798delAATCCCCAGCGTGGACGGG	ENSP00000351575:p.Asn26fs	NA	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	37	CCDS43328.1																																																																																			BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374681.2		+	ENST00000358731.4	Frame_Shift_Del	DEL	5 : 70751780 - 70751798 - PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	80	14
BLOC1S3	388552	broad.mit.edu	37	19	45682658	45682658	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:45682658A>C	ENST00000433642.2	+	2	200	c.104A>C	c.(103-105)gAg>gCg	p.E35A	BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	35					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCCTCGTCGGAGGAGGAGGAG	0.761		NA							Hermansky-Pudlak syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	10	10			NA	NA	19		NA											NA				45682658		2158	4240	6398	SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114	388552	388552		Biogenesis of lysosomal organelles complex-1 subunits	20914	protein-coding gene	gene with protein product	BLOC-1 subunit 3, Biogenesis of Lysosome-related Organelles complex-1 Subunit 3, Hermansky-Pudlak syndrome 8	609762			NA	15102850	Standard	NM_212550	NM_212550	NA	Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.104A>C	19.37:g.45682658A>C	ENSP00000393840:p.Glu35Ala	NA	B2RXB8	37	CCDS12656.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381951	0.42207	.	.	ENSG00000189114	ENST00000433642	.	.	.	2.93	1.77	0.24775	.	0.624228	0.12947	N	0.426136	T	0.16642	0.0400	N	0.08118	0	0.26487	N	0.975019	B	0.28128	0.201	B	0.20767	0.031	T	0.13980	-1.0489	9	0.62326	D	0.03	.	6.2471	0.20825	0.7472:0.2528:0.0:0.0	.	35	Q6QNY0	BL1S3_HUMAN	A	35	.	ENSP00000393840:E35A	E	+	2	0	BLOC1S3	50374498	0.697000	0.27767	0.994000	0.49952	0.982000	0.71751	0.657000	0.24963	1.121000	0.41925	0.374000	0.22700	GAG	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457559.1		+	ENST00000433642.2	Missense_Mutation	SNP	19 : 45682658 - 45682658 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	46	19
C11orf30	56946	broad.mit.edu	37	11	76257216	76257216	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:76257216G>A	ENST00000533248.1	+	17	3415	c.3376G>A	c.(3376-3378)Gtt>Att	p.V1126I	C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I|C11orf30_ENST00000529032.1_Missense_Mutation_p.V1217I|C11orf30_ENST00000343878.3_Intron			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1217					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATCCACTGTTGGCTCTTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	89	88			NA	NA	11		NA											NA				76257216		2200	4292	6492	SO:0001583	missense			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636	56946	56946			18071	protein-coding gene	gene with protein product		608574			NA		Standard	NM_020193	XM_005274106	NA	Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000533248.1:c.3376G>A	11.37:g.76257216G>A	ENSP00000433634:p.Val1126Ile	NA	Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	37		.	.	.	.	.	.	.	.	.	.	G	9.733	1.162780	0.21538	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.06	3.0	0.34707	.	0.499003	0.20569	N	0.089772	T	0.36166	0.0957	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.22346	0.068;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20767	0.031;0.0;0.0;0.0;0.0;0.0	T	0.15150	-1.0447	9	0.27082	T	0.32	-1.8144	9.3812	0.38316	0.1312:0.119:0.7498:0.0	.	1126;1218;1232;1218;1119;1217	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	I	1119;1217;899;1232;1126;1218;1218;1217	.	ENSP00000334130:V1217I	V	+	1	0	C11orf30	75934864	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.038000	0.41184	1.580000	0.49851	0.650000	0.86243	GTT	C11orf30-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383204.1		+	ENST00000533248.1	Missense_Mutation	SNP	11 : 76257216 - 76257216 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	398	17
CACNA1E	777	broad.mit.edu	37	1	181707541	181707541	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:181707541C>A	ENST00000526775.1	+	23	3699	c.3534C>A	c.(3532-3534)ttC>ttA	p.F1178L	CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1197L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1197					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGGCGTGTTCACCTTTGAGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													262	271	268			NA	NA	1		NA											NA				181707541		1920	4133	6053	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.3534C>A	1.37:g.181707541C>A	ENSP00000434814:p.Phe1178Leu	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615265	0.66672	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	5.49	4.57	0.56435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99535	4.615	0.80722	D	1	P;P;D	0.61697	0.751;0.576;0.99	P;P;D	0.72982	0.613;0.542;0.979	D	0.97750	1.0214	10	0.87932	D	0	.	10.6869	0.45848	0.0:0.842:0.0:0.158	.	1178;1197;1197	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1197;1178;1148;1129;804;1178;1197	ENSP00000356542:F1197L;ENSP00000434814:F1178L;ENSP00000350183:F1148L;ENSP00000351101:F1129L;ENSP00000356539:F804L;ENSP00000353222:F1178L;ENSP00000356545:F1197L	ENSP00000350183:F1148L	F	+	3	2	CACNA1E	179974164	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.823000	0.62694	1.420000	0.47138	0.655000	0.94253	TTC	CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Missense_Mutation	SNP	1 : 181707541 - 181707541 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	922	14
CACNG2	10369	broad.mit.edu	37	22	37098459	37098459	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:37098459C>T	ENST00000300105.6	-	1	1144	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	55					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ATAACTTCCTCGTTCTTTTTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													246	204	218			NA	NA	22		NA											NA				37098459		2203	4300	6503	SO:0001583	missense			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862	10369	10369		Calcium channel subunits	1406	protein-coding gene	gene with protein product		602911			NA		Standard		NM_006078	NA	Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.163G>A	22.37:g.37098459C>T	ENSP00000300105:p.Glu55Lys	NA	Q2M1M1|Q5TGT3|Q9UGZ7	37	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145171	0.57044	.	.	ENSG00000166862	ENST00000300105	T	0.37584	1.19	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	N	0.12746	0.255	0.58432	D	0.999997	D	0.52996	0.957	P	0.44394	0.448	T	0.04281	-1.0963	10	0.06891	T	0.86	-10.3973	17.3494	0.87318	0.0:1.0:0.0:0.0	.	55	Q9Y698	CCG2_HUMAN	K	55	ENSP00000300105:E55K	ENSP00000300105:E55K	E	-	1	0	CACNG2	35428405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.284000	0.78650	2.134000	0.65973	0.546000	0.68486	GAG	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075500.2		-	ENST00000300105.6	Missense_Mutation	SNP	22 : 37098459 - 37098459 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	504	125
CCL7	6354	broad.mit.edu	37	17	32597292	32597292	+	Translation_Start_Site	SNP	A	A	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:32597292A>T	ENST00000378569.2	+	0	53				CCL7_ENST00000200307.4_Missense_Mutation_p.M5L|CCL7_ENST00000394630.3_De_novo_Start_InFrame|CCL7_ENST00000394627.1_De_novo_Start_InFrame	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	NA					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGGAAGCCCATGCCCTCACC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	59	63			NA	NA	17		NA											NA				32597292		2203	4300	6503					AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688	6354	6354		Chemokine ligands, Endogenous ligands	10634	protein-coding gene	gene with protein product	monocyte chemoattractant protein 3, monocyte chemotactic protein 3	158106	small inducible cytokine A7 (monocyte chemotactic protein 3)	SCYA6, SCYA7	NA	8461011	Standard	NM_006273	NM_006273	NA	Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:	17.37:g.32597292A>T		NA	Q569J6	37	CCDS11278.1	.	.	.	.	.	.	.	.	.	.	A	0.081	-1.184197	0.01620	.	.	ENSG00000108688	ENST00000378569;ENST00000394630;ENST00000394627	.	.	.	3.89	0.269	0.15631	.	10.005000	0.00166	N	0.000004	T	0.18635	0.0447	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12477	-1.0546	6	0.11182	T	0.66	.	5.9178	0.19065	0.5474:0.0:0.4526:0.0	.	.	.	.	L	5	.	ENSP00000367832:M5L	M	+	1	0	CCL7	29621405	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.026000	0.01434	-0.061000	0.13110	0.528000	0.53228	ATG	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256386.2		+	ENST00000378569.2	De_novo_Start_InFrame	SNP	17 : 32597292 - 32597292 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	164	70
CHST10	9486	broad.mit.edu	37	2	101010109	101010109	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:101010109T>C	ENST00000264249.3	-	7	1054	c.669A>G	c.(667-669)agA>agG	p.R223R	CHST10_ENST00000409701.1_Silent_p.R223R|CHST10_ENST00000542617.1_Silent_p.R271R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	223					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCCTGTATTTTCTGATGATGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	146	146			NA	NA	2		NA											NA				101010109		2203	4300	6503	SO:0001819	synonymous_variant			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526	9486	9486		Sulfotransferases, membrane-bound	19650	protein-coding gene	gene with protein product		606376			NA	12080076	Standard	NM_004854	NM_004854	NA	Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.669A>G	2.37:g.101010109T>C		NA		37	CCDS2047.1																																																																																			CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253162.1		-	ENST00000264249.3	Silent	SNP	2 : 101010109 - 101010109 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	612	75
CPNE4	131034	broad.mit.edu	37	3	131283152	131283152	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:131283152G>C	ENST00000512055.1	-	15	3095	c.969C>G	c.(967-969)aaC>aaG	p.N323K	CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K|CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K			Q96A23	CPNE4_HUMAN	copine IV	323	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGAACAGCTGTTCCTGGGGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	109	111			NA	NA	3		NA											NA				131283152		2203	4300	6503	SO:0001583	missense			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353	131034	131034			2317	protein-coding gene	gene with protein product	copine 8	604208			NA	9430674, 12670487	Standard	NM_130808	XM_005247107	NA	Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.969C>G	3.37:g.131283152G>C	ENSP00000421705:p.Asn323Lys	NA	D3DNC5|Q8TEX1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243726	0.58995	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.54071	0.6;0.6;0.59;0.6;0.59	5.52	4.65	0.58169	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.58510	1.815	0.80722	D	1	D;P	0.76494	0.999;0.81	D;B	0.74023	0.982;0.313	T	0.65994	-0.6033	10	0.35671	T	0.21	-36.7038	14.6356	0.68686	0.07:0.0:0.93:0.0	.	341;323	Q96A23-2;Q96A23	.;CPNE4_HUMAN	K	323;323;341;323;341	ENSP00000421705:N323K;ENSP00000411904:N323K;ENSP00000424853:N341K;ENSP00000423811:N323K;ENSP00000421646:N341K	ENSP00000411904:N323K	N	-	3	2	CPNE4	132765842	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.441000	0.66569	1.350000	0.45770	-0.221000	0.12465	AAC	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356583.4		-	ENST00000512055.1	Missense_Mutation	SNP	3 : 131283152 - 131283152 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	390	69
CXorf21	80231	broad.mit.edu	37	X	30577624	30577624	+	Silent	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:30577624A>G	ENST00000378962.3	-	3	1171	c.849T>C	c.(847-849)atT>atC	p.I283I		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	283										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TAATTTCAGTAATTTCAGTTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	68	71			NA	NA	X		NA											NA				30577624		2202	4300	6502	SO:0001819	synonymous_variant			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280	80231	80231			25667	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025159	NM_025159	NA	Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.849T>C	X.37:g.30577624A>G		NA		37	CCDS14224.1																																																																																			CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056164.1		-	ENST00000378962.3	Silent	SNP	X : 30577624 - 30577624 G PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	124	4
DHX38	9785	broad.mit.edu	37	16	72130794	72130794	+	Silent	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:72130794C>A	ENST00000268482.3	+	3	906	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	133					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGAACGCAGTCGGCAGAGAGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(97;711 1442 7855 13832 28836)							NA				0													172	173	172			NA	NA	16		NA											NA				72130794		2198	4300	6498	SO:0001819	synonymous_variant			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829	9785	9785		DEAH-boxes	17211	protein-coding gene	gene with protein product		605584	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38	DDX38	NA	9524131, 9039502	Standard	NM_014003	NM_014003	NA	Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.397C>A	16.37:g.72130794C>A		NA	D3DWS7|O75212|Q96HN7	37	CCDS10907.1																																																																																			DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269004.3		+	ENST00000268482.3	Silent	SNP	16 : 72130794 - 72130794 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	831	18
DNAH6	1768	broad.mit.edu	37	2	84784998	84784998	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:84784998C>T	ENST00000237449.6	+	10	1750	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	DNAH6_ENST00000389394.3_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	581	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAACTGGGCCAAGTTTAGCA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	90			NA	NA	2		NA											NA				84784998		2203	4300	6503	SO:0001583	missense			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423	1768	1768		Axonemal dyneins	2951	protein-coding gene	gene with protein product		603336	dynein, axonemal, heavy polypeptide 6, dynein heavy chain-like 1	DNHL1	NA	8812413	Standard	NM_001370	NM_001370	NA	Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1742C>T	2.37:g.84784998C>T	ENSP00000237449:p.Pro581Leu	NA	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109272	0.56398	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26067	1.76;1.86;1.76	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000083	T	0.51483	0.1677	M	0.70275	2.135	0.54753	D	0.999982	B;D	0.89917	0.344;1.0	B;D	0.79784	0.078;0.993	T	0.54227	-0.8325	10	0.62326	D	0.03	.	17.2596	0.87066	0.0:1.0:0.0:0.0	.	581;160	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	L	581	ENSP00000374045:P581L;ENSP00000381326:P581L;ENSP00000237449:P581L	ENSP00000237449:P581L	P	+	2	0	DNAH6	84638509	0.998000	0.40836	0.736000	0.30914	0.477000	0.33069	4.964000	0.63701	2.363000	0.80096	0.561000	0.74099	CCA	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328537.2		+	ENST00000237449.6	Missense_Mutation	SNP	2 : 84784998 - 84784998 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	503	199
DNHD1	144132	broad.mit.edu	37	11	6593035	6593035	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:6593035G>A	ENST00000527990.2	+	41	14081	c.14081G>A	c.(14080-14082)aGt>aAt	p.S4694N	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4694N			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4694					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGGGCACCAGTGACCTGCCA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	56	53			NA	NA	11		NA											NA				6593035		2136	4246	6382	SO:0001583	missense			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532	144132	144132			26532	protein-coding gene	gene with protein product			chromosome 11 open reading frame 47, dynein heavy chain domain 1-like, coiled-coil domain containing 35	DHCD1, C11orf47, DNHD1L, CCDC35	NA	12975309	Standard	NM_144666	NM_173589	NA	Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14081G>A	11.37:g.6593035G>A	ENSP00000436180:p.Ser4694Asn	NA	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	1.262	-0.615437	0.03663	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.26067	1.76;1.76	4.75	-5.17	0.02849	Dynein heavy chain (1);	1.578020	0.03032	N	0.152237	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28490	-1.0042	10	0.12103	T	0.63	1.5404	9.9464	0.41611	0.1879:0.1309:0.6813:0.0	.	3782;747;4694	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	N	4694;4694;962	ENSP00000254579:S4694N;ENSP00000436180:S4694N	ENSP00000254579:S4694N	S	+	2	0	DNHD1	6549611	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.007000	0.03667	-0.921000	0.03794	-0.165000	0.13383	AGT	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384673.2		+	ENST00000527990.2	Missense_Mutation	SNP	11 : 6593035 - 6593035 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	206	48
DYNC1I1	1780	broad.mit.edu	37	7	95665004	95665004	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:95665004T>A	ENST00000324972.6	+	13	1548	c.1355T>A	c.(1354-1356)gTc>gAc	p.V452D	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	452					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACGGGAGACGTCAATAACTTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													323	260	282			NA	NA	7		NA											NA				95665004		2203	4300	6503	SO:0001583	missense			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560	1780	1780		Cytoplasmic dyneins, WD repeat domain containing	2963	protein-coding gene	gene with protein product		603772	dynein, cytoplasmic, intermediate polypeptide 1	DNCI1	NA	10049579, 16260502	Standard	NM_004411	NM_004411	NA	Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1355T>A	7.37:g.95665004T>A	ENSP00000320130:p.Val452Asp	NA	Q9Y2X1	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168707	0.57584	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.996	D;D;D;D;D	0.78314	0.979;0.991;0.991;0.969;0.923	T	0.82631	-0.0362	10	0.11182	T	0.66	0.0118	15.3616	0.74478	0.0:0.0:0.0:1.0	.	435;432;435;452;415	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	D	435;452;415;432;415;435	ENSP00000392337:V435D;ENSP00000320130:V452D;ENSP00000438377:V415D;ENSP00000398118:V432D;ENSP00000352348:V415D;ENSP00000412444:V435D	ENSP00000320130:V452D	V	+	2	0	DYNC1I1	95502940	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	7.868000	0.87116	2.283000	0.76528	0.477000	0.44152	GTC	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333432.1		+	ENST00000324972.6	Missense_Mutation	SNP	7 : 95665004 - 95665004 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	1417	120
FAM134B	54463	broad.mit.edu	37	5	16479052	16479052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:16479052C>A	ENST00000306320.9	-	6	801	c.715G>T	c.(715-717)Gga>Tga	p.G239*	FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	239					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						ATTTTTTGTCCAATATCATTA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	58	60			NA	NA	5		NA											NA				16479052		1817	4064	5881	SO:0001587	stop_gained			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153	54463	54463			25964	protein-coding gene	gene with protein product		613114			NA	19838196, 24327336	Standard	NM_001034850	NM_001034850	NA	Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.715G>T	5.37:g.16479052C>A	ENSP00000304642:p.Gly239*	NA	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	37	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	C	40	8.391096	0.98791	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	.	.	.	5.61	5.61	0.85477	.	0.234210	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.3758	19.6408	0.95757	0.0:1.0:0.0:0.0	.	.	.	.	X	98;239	.	ENSP00000304642:G239X	G	-	1	0	FAM134B	16532052	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.164000	0.64954	2.658000	0.90341	0.585000	0.79938	GGA	FAM134B-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366090.1		-	ENST00000306320.9	Nonsense_Mutation	SNP	5 : 16479052 - 16479052 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	669	10
FAM135B	51059	broad.mit.edu	37	8	139144922	139144922	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:139144922C>A	ENST00000395297.1	-	20	4305	c.4135G>T	c.(4135-4137)Ggc>Tgc	p.G1379C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCGGCTCGGCCGATCAGGGTG	0.542		NA								HNSCC(54;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													193	205	201			NA	NA	8		NA											NA				139144922		1976	4153	6129	SO:0001583	missense			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724	51059	51059			28029	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_015912	NM_015912	NA	Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4135G>T	8.37:g.139144922C>A	ENSP00000378710:p.Gly1379Cys	NA	B5MDB3|O95879|Q2WGJ7|Q3KP46	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	32	5.192688	0.94960	.	.	ENSG00000147724	ENST00000395297	T	0.55413	0.52	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80973	-0.1143	10	0.87932	D	0	-24.2159	18.9188	0.92516	0.0:1.0:0.0:0.0	.	1379	Q49AJ0	F135B_HUMAN	C	1379	ENSP00000378710:G1379C	ENSP00000378710:G1379C	G	-	1	0	FAM135B	139214104	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.786000	0.85741	2.732000	0.93576	0.591000	0.81541	GGC	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313590.3		-	ENST00000395297.1	Missense_Mutation	SNP	8 : 139144922 - 139144922 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	1318	12
FAM194A	0	broad.mit.edu	37	3	150391782	150391782	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:150391782T>G	ENST00000295910.6	-	11	1356	c.1304A>C	c.(1303-1305)aAg>aCg	p.K435T	FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN		435										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTCAGAAACTTGCTCCCATG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	150	151			NA	NA	3		NA											NA				150391782		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000295910.6:c.1304A>C	3.37:g.150391782T>G	ENSP00000295910:p.Lys435Thr	NA	Q8N9Y8|Q8NCQ6|Q8NCZ6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306745	0.60305	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.12984	2.63;2.63	4.94	4.94	0.65067	.	0.220254	0.31461	N	0.007604	T	0.25457	0.0619	L	0.45228	1.405	0.30174	N	0.801058	D	0.76494	0.999	D	0.79784	0.993	T	0.05131	-1.0904	10	0.46703	T	0.11	-12.9558	8.3833	0.32486	0.0:0.0893:0.0:0.9107	.	435	Q7L0X2	F194A_HUMAN	T	435;289;393	ENSP00000295910:K435T;ENSP00000419366:K289T	ENSP00000295910:K435T	K	-	2	0	FAM194A	151874472	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.661000	0.54503	2.053000	0.61076	0.533000	0.62120	AAG	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257666.1		-	ENST00000295910.6	Missense_Mutation	SNP	3 : 150391782 - 150391782 G PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	437	60
FAT4	79633	broad.mit.edu	37	4	126411862	126411862	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:126411862G>A	ENST00000394329.3	+	17	13898	c.13885G>A	c.(13885-13887)Gcc>Acc	p.A4629T	FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4629					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAGCATCGCCCCTTCGGA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	73	74			NA	NA	4		NA											NA				126411862		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13885G>A	4.37:g.126411862G>A	ENSP00000377862:p.Ala4629Thr	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493760	0.64186	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.91945	-2.94;-2.39	4.95	4.95	0.65309	.	0.000000	0.34110	U	0.004241	D	0.94807	0.8323	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.94547	0.7750	10	0.45353	T	0.12	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	2870;4629;4628	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	4629;2870	ENSP00000377862:A4629T;ENSP00000335169:A2870T	ENSP00000335169:A2870T	A	+	1	0	FAT4	126631312	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.440000	0.97547	2.275000	0.75901	0.561000	0.74099	GCC	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126411862 - 126411862 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	192	13
FCGBP	8857	broad.mit.edu	37	19	40433627	40433627	+	Silent	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:40433627G>A	ENST00000221347.6	-	2	649	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	214	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTAGCTGTGACCTTTGACC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	71	72			NA	NA	19		NA											NA				40433627		2203	4300	6503	SO:0001819	synonymous_variant			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395	8857	8857			13572	protein-coding gene	gene with protein product	IgG Fc binding protein, Human Fc gamma BP				NA	9182547	Standard	NM_003890	NM_003890	NA	Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.642C>T	19.37:g.40433627G>A		NA	O95784	37	CCDS12546.1																																																																																			FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462507.1		-	ENST00000221347.6	Silent	SNP	19 : 40433627 - 40433627 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	305	19
GPR125	166647	broad.mit.edu	37	4	22422588	22422588	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:22422588C>A	ENST00000334304.5	-	12	1999	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	577					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R577L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCTGGATCCCGCCTCCCATA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											197	202	200			NA	NA	4		NA											NA				22422588		2203	4300	6503	SO:0001583	missense			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990	166647	166647		-, GPCR / Class B : Orphans, Immunoglobulin superfamily / I-set domain containing	13839	protein-coding gene	gene with protein product		612303			NA	12565841	Standard		NM_145290	NA	Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1730G>T	4.37:g.22422588C>A	ENSP00000334952:p.Arg577Leu	NA	Q6UXK9|Q86SQ5|Q8TC55	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341855	0.41498	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.56611	0.61;0.45	5.1	5.1	0.69264	.	0.165023	0.41097	D	0.000942	T	0.58652	0.2137	L	0.29908	0.895	0.44762	D	0.997763	B;B;D;D	0.63880	0.001;0.018;0.992;0.993	B;B;D;D	0.74023	0.006;0.008;0.969;0.982	T	0.49000	-0.8984	10	0.06891	T	0.86	-16.2877	18.8818	0.92358	0.0:1.0:0.0:0.0	.	452;577;351;577	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	L	577;351;577	ENSP00000334952:R577L;ENSP00000421006:R577L	ENSP00000334952:R577L	R	-	2	0	GPR125	22031686	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.527000	0.67123	2.515000	0.84797	0.655000	0.94253	CGG	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362960.3		-	ENST00000334304.5	Missense_Mutation	SNP	4 : 22422588 - 22422588 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	902	9
GPR158	57512	broad.mit.edu	37	10	25701403	25701403	+	Splice_Site	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:25701403G>T	ENST00000376351.3	+	4	1694		c.e4+1			NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	NA						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAAGCAAAGGTAAACCCAGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	103	108			NA	NA	10		NA											NA				25701403		2203	4300	6503	SO:0001630	splice_region_variant			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025	57512	57512		GPCR / Class C : Orphans	23689	protein-coding gene	gene with protein product		614573			NA		Standard	XM_166110	NM_020752	NA	Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1335+1G>T	10.37:g.25701403G>T		NA	Q6QR81|Q9ULT3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999869	0.93227	.	.	ENSG00000151025	ENST00000376351	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR158	25741409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.252000	0.95491	2.937000	0.99478	0.650000	0.86243	.	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047248.2	Intron	+	ENST00000376351.3	Splice_Site	SNP	10 : 25701403 - 25701403 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	374	48
GREM2	64388	broad.mit.edu	37	1	240656454	240656454	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:240656454G>A	ENST00000318160.4	-	2	588	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	108	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TTCACGTGCCGCGGGATGTAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	59	58			NA	NA	1		NA											NA				240656454		2203	4300	6503	SO:0001583	missense			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875	64388	64388			17655	protein-coding gene	gene with protein product	protein related to DAN and cerberus	608832	gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 2		NA	15039429	Standard	NM_022469	XM_005273226	NA	Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.322C>T	1.37:g.240656454G>A	ENSP00000318650:p.Arg108Trp	NA	Q86UD9	37	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861866	0.91433	.	.	ENSG00000180875	ENST00000318160	T	0.33216	1.42	4.97	4.97	0.65823	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	M	0.82323	2.585	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.57312	-0.7833	10	0.54805	T	0.06	-17.7704	14.0116	0.64500	0.0:0.0:0.8481:0.1519	.	108	Q9H772	GREM2_HUMAN	W	108	ENSP00000318650:R108W	ENSP00000318650:R108W	R	-	1	2	GREM2	238723077	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.487000	0.45268	2.290000	0.77057	0.557000	0.71058	CGG	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096286.1		-	ENST00000318160.4	Missense_Mutation	SNP	1 : 240656454 - 240656454 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	269	8
HSPA1L	3305	broad.mit.edu	37	6	31779009	31779009	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:31779009G>T	ENST00000375654.4	-	2	930	c.741C>A	c.(739-741)ttC>ttA	p.F247L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	247					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTTCCTCTTGAACTCCTCCA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	68			NA	NA	6		NA											NA				31779009		2203	4297	6500	SO:0001583	missense			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390	3305	3305		Heat shock proteins / HSP70	5234	protein-coding gene	gene with protein product		140559	heat shock 70kD protein-like 1		NA	9685725, 9349405	Standard		NM_005527	NA	Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.741C>A	6.37:g.31779009G>T	ENSP00000364805:p.Phe247Leu	NA	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758844	0.49468	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01295	5.04;5.04	5.4	4.53	0.55603	.	0.000000	0.36409	N	0.002612	T	0.08268	0.0206	H	0.96460	3.825	0.80722	D	1	D	0.61080	0.989	D	0.87578	0.998	T	0.00827	-1.1550	10	0.87932	D	0	-8.4819	11.7911	0.52070	0.0842:0.0:0.9158:0.0	.	247	P34931	HS71L_HUMAN	L	247;247;192;137	ENSP00000364805:F247L;ENSP00000387691:F247L	ENSP00000364804:F192L	F	-	3	2	HSPA1L	31886988	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	7.770000	0.85390	1.513000	0.48852	0.585000	0.79938	TTC	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076416.2		-	ENST00000375654.4	Missense_Mutation	SNP	6 : 31779009 - 31779009 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	371	13
JAGN1	84522	broad.mit.edu	37	3	9934901	9934901	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:9934901G>A	ENST00000307768.4	+	2	561	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	131						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					CAGCTCTACCGCCATGGCAAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													239	150	180			NA	NA	3		NA											NA				9934901		2203	4300	6503	SO:0001583	missense			AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135	84522	84522			26926	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_032492	NM_032492	NA	Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.392G>A	3.37:g.9934901G>A	ENSP00000306106:p.Arg131His	NA	Q8NCF6|Q96SW1	37	CCDS2588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.014448|4.014448	0.75161|0.75161	.|.	.|.	ENSG00000171135|ENSG00000171135	ENST00000543379|ENST00000307768	.|.	.|.	.|.	5.73|5.73	3.76|3.76	0.43208|0.43208	.|.	.|0.054409	.|0.64402	.|D	.|0.000001	T|T	0.74099|0.74099	0.3672|0.3672	M|M	0.84082|0.84082	2.675|2.675	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.63880	.|0.993	.|P	.|0.55713	.|0.782	T|T	0.78671|0.78671	-0.2113|-0.2113	6|9	0.13853|0.66056	T|D	0.58|0.02	-22.0269|-22.0269	11.9619|11.9619	0.53013|0.53013	0.071:0.0:0.7989:0.13|0.071:0.0:0.7989:0.13	.|.	.|131	.|Q8N5M9	.|JAGN1_HUMAN	T|H	130|131	.|.	ENSP00000442889:A130T|ENSP00000306106:R131H	A|R	+|+	1|2	0|0	JAGN1|JAGN1	9909901|9909901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.496000|7.496000	0.81526|0.81526	1.434000|1.434000	0.47414|0.47414	-0.339000|-0.339000	0.08088|0.08088	GCC|CGC	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250335.1		+	ENST00000307768.4	Missense_Mutation	SNP	3 : 9934901 - 9934901 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	385	16
JPH1	56704	broad.mit.edu	37	8	75227735	75227735	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:75227735C>T	ENST00000342232.4	-	2	540	c.500G>A	c.(499-501)cGc>cAc	p.R167H		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	167					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCTCGCTGCGCAGCGAGGC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	13	13			NA	NA	8		NA											NA				75227735		2125	4151	6276	SO:0001583	missense			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369	56704	56704			14201	protein-coding gene	gene with protein product		605266			NA	10891348, 10949023	Standard		XM_005251273	NA	Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.500G>A	8.37:g.75227735C>T	ENSP00000344488:p.Arg167His	NA	B2RTZ0	37	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214836	0.95104	.	.	ENSG00000104369	ENST00000342232	T	0.63913	-0.07	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82824	-0.0266	10	0.49607	T	0.09	.	17.2378	0.87004	0.0:1.0:0.0:0.0	.	167	Q9HDC5	JPH1_HUMAN	H	167	ENSP00000344488:R167H	ENSP00000344488:R167H	R	-	2	0	JPH1	75390290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.489000	0.81451	2.284000	0.76573	0.655000	0.94253	CGC	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379102.1		-	ENST00000342232.4	Missense_Mutation	SNP	8 : 75227735 - 75227735 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	88	7
KCTD9	54793	broad.mit.edu	37	8	25296876	25296876	+	Silent	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:25296876G>T	ENST00000221200.4	-	6	638	c.418C>A	c.(418-420)Cga>Aga	p.R140R	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	140	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TCAGGACTTCGGTCAATTAAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	8		NA											NA				25296876		2203	4299	6502	SO:0001819	synonymous_variant			BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756	54793	54793		BTB/POZ domain containing	22401	protein-coding gene	gene with protein product			potassium channel tetramerisation domain containing 9		NA	11483580	Standard	NM_017634	NM_017634	NA	Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.418C>A	8.37:g.25296876G>T		NA	Q6NUM8|Q9NXV4	37	CCDS6048.1																																																																																			KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216890.1		-	ENST00000221200.4	Silent	SNP	8 : 25296876 - 25296876 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	247	10
KDELC1	79070	broad.mit.edu	37	13	103443745	103443745	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:103443745C>A	ENST00000376004.4	-	5	1044	c.708G>T	c.(706-708)ttG>ttT	p.L236F	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	236						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCCAGTCTCCCAAATTAACAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	171	165			NA	NA	13		NA											NA				103443745		2203	4300	6503	SO:0001583	missense			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901	79070	79070			19350	protein-coding gene	gene with protein product		611613			NA		Standard		NM_024089	NA	Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.708G>T	13.37:g.103443745C>A	ENSP00000365172:p.Leu236Phe	NA	Q53HL3|Q9BVD2	37	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667106	0.67814	.	.	ENSG00000134901	ENST00000376004	T	0.25085	1.82	5.91	1.54	0.23209	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.45071	-0.9286	10	0.72032	D	0.01	.	7.9817	0.30188	0.1148:0.6657:0.0:0.2194	.	236	Q6UW63	KDEL1_HUMAN	F	236	ENSP00000365172:L236F	ENSP00000365172:L236F	L	-	3	2	KDELC1	102241746	0.998000	0.40836	0.999000	0.59377	0.980000	0.70556	0.660000	0.25009	0.341000	0.23771	-0.345000	0.07892	TTG	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045699.1		-	ENST00000376004.4	Missense_Mutation	SNP	13 : 103443745 - 103443745 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	1078	11
KDM5B	10765	broad.mit.edu	37	1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	rs76768289		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	461	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATGTTGTTCAAATTCCAGC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	101	99			NA	NA	1		NA											NA				202724554		2203	4300	6503	SO:0001583	missense			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139	10765	10765		Chromatin-modifying enzymes / K-demethylases, Zinc fingers, PHD-type	18039	protein-coding gene	gene with protein product	cancer/testis antigen 31, protein phosphatase 1, regulatory subunit 98	605393	Jumonji, AT rich interactive domain 1B (RBP2-like), jumonji, AT rich interactive domain 1B	JARID1B	NA	11483573, 11478881	Standard	NM_006618	NM_006618	NA	Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1383G>T	1.37:g.202724554C>A	ENSP00000356234:p.Leu461Phe	NA	O95811|Q15752|Q9Y3Q5	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700822	0.68501	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	4.82	0.62117	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.961;0.999	D	0.88022	0.2769	10	0.87932	D	0	-12.7178	9.1277	0.36826	0.0:0.7688:0.0:0.2312	.	497;461	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	461;303;497;303	ENSP00000356234:L461F;ENSP00000356233:L497F;ENSP00000235790:L303F	ENSP00000235790:L303F	L	-	3	2	KDM5B	200991177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.022000	0.41030	1.425000	0.47237	0.655000	0.94253	TTG	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099184.2		-	ENST00000367265.3	Missense_Mutation	SNP	1 : 202724554 - 202724554 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	480	17
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	541	275
LAMB4	22798	broad.mit.edu	37	7	107743496	107743496	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:107743496C>T	ENST00000388781.3	-	10	1256	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	LAMB4_ENST00000205386.4_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A|LAMB4_ENST00000418464.1_Silent_p.A391A|LAMB4_ENST00000388780.3_Silent_p.A391A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	391	Laminin EGF-like 2.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGAATGCACGCGTAGGGAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	57	59			NA	NA	7		NA											NA				107743496		2203	4300	6503	SO:0001819	synonymous_variant			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128	22798	22798		Laminins	6491	protein-coding gene	gene with protein product					NA		Standard	XM_209857	NM_007356	NA	Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1173G>A	7.37:g.107743496C>T		NA	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	37	CCDS34732.1																																																																																			LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337442.1		-	ENST00000388781.3	Silent	SNP	7 : 107743496 - 107743496 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	124	27
LGALS1	3956	broad.mit.edu	37	22	38075643	38075643	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:38075643G>A	ENST00000215909.5	+	4	390	c.295G>A	c.(295-297)Gtc>Atc	p.V99I	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	99	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CAACCTGACCGTCAAGCTGCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(23;406 890 14304 26016)							NA				0								G	ILE/VAL	0,4406		0,0,2203	115	82	93		295	-0.1	1	22		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGALS1	NM_002305.3	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	99/136	38075643	1,13005	2203	4300	6503	SO:0001583	missense				CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097	3956	3956		Lectins, galactoside-binding, Endogenous ligands	6561	protein-coding gene	gene with protein product	galectin 1	150570			NA	1988031, 12271131	Standard	NM_002305	NM_002305	NA	Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.295G>A	22.37:g.38075643G>A	ENSP00000215909:p.Val99Ile	NA	B2R5E8|Q9UDK5	37	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	g	0.469	-0.885255	0.02511	0.0	1.16E-4	ENSG00000100097	ENST00000215909	T	0.04360	3.64	6.08	-0.0473	0.13844	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.237165	0.42294	N	0.000737	T	0.03695	0.0105	L	0.31120	0.905	0.31764	N	0.632933	B	0.11235	0.004	B	0.19666	0.026	T	0.35051	-0.9804	10	0.19590	T	0.45	-0.9193	10.1288	0.42665	0.4005:0.0:0.5995:0.0	.	99	P09382	LEG1_HUMAN	I	99	ENSP00000215909:V99I	ENSP00000215909:V99I	V	+	1	0	LGALS1	36405589	0.451000	0.25705	0.997000	0.53966	0.127000	0.20565	0.715000	0.25822	-0.043000	0.13513	-1.057000	0.02308	GTC	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319482.1		+	ENST00000215909.5	Missense_Mutation	SNP	22 : 38075643 - 38075643 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	240	61
MAP3K5	4217	broad.mit.edu	37	6	137113237	137113237	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:137113237C>G	ENST00000359015.4	-	1	419	c.59G>C	c.(58-60)gGc>gCc	p.G20A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	20					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGTGCAGAAGCCCGAGGGGGC	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													5	5	5			NA	NA	6		NA											NA				137113237		1768	3460	5228	SO:0001583	missense			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442	4217	4217		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6857	protein-coding gene	gene with protein product	apoptosis signal regulating kinase 1	602448		MEKK5	NA	9465908	Standard		NM_005923	NA	Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.59G>C	6.37:g.137113237C>G	ENSP00000351908:p.Gly20Ala	NA	Q5THN3|Q99461	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228890	0.22542	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.68624	-0.34	3.56	1.67	0.24075	.	0.634408	0.14920	N	0.290736	T	0.20170	0.0485	N	0.14661	0.345	0.18873	N	0.999985	B	0.13594	0.008	B	0.11329	0.006	T	0.29792	-1.0000	10	0.12103	T	0.63	.	7.361	0.26745	0.1664:0.7407:0.0:0.0929	.	20	Q99683	M3K5_HUMAN	A	20;100	ENSP00000351908:G20A	ENSP00000351908:G20A	G	-	2	0	MAP3K5	137154930	0.535000	0.26370	0.016000	0.15963	0.025000	0.11179	2.498000	0.45363	0.287000	0.22375	0.573000	0.79308	GGC	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042383.1		-	ENST00000359015.4	Missense_Mutation	SNP	6 : 137113237 - 137113237 G PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	85	43
MED1	5469	broad.mit.edu	37	17	37565824	37565824	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:37565824C>A	ENST00000394287.3	-	17	1846				MED1_ENST00000300651.6_Missense_Mutation_p.D884Y			Q15648	MED1_HUMAN	mediator complex subunit 1	NA					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGCTTTCATCAAAATATTCT	0.398		NA								HNSCC(31;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(21;279 768 2492 4877 24026)							NA				0													108	110	109			NA	NA	17		NA											NA				37565824		2203	4300	6503	SO:0001627	intron_variant			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686	5469	5469			9234	protein-coding gene	gene with protein product		604311	PPAR binding protein	TRIP2, PPARGBP, PPARBP	NA	9325263, 10485914	Standard	NM_004774	NM_004774	NA	Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1640+1009G>T	17.37:g.37565824C>A		NA	A2RRQ6|O43810|O75447|Q6P9H7|Q6PK58|Q9HD39	37		.	.	.	.	.	.	.	.	.	.	C	17.15	3.316261	0.60524	.	.	ENSG00000125686	ENST00000300651	T	0.39997	1.05	6.17	6.17	0.99709	.	.	.	.	.	T	0.53626	0.1808	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.54423	-0.8296	9	0.72032	D	0.01	-11.7191	20.8794	0.99867	0.0:1.0:0.0:0.0	.	884	Q15648	MED1_HUMAN	Y	884	ENSP00000300651:D884Y	ENSP00000300651:D884Y	D	-	1	0	MED1	34819350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.584000	0.82572	2.941000	0.99782	0.655000	0.94253	GAT	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256944.1		-	ENST00000394287.3	Intron	SNP	17 : 37565824 - 37565824 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	649	9
MYOT	9499	broad.mit.edu	37	5	137219194	137219194	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:137219194T>A	ENST00000515645.1	+	8	876	c.593T>A	c.(592-594)gTc>gAc	p.V198D	MYOT_ENST00000421631.2_Missense_Mutation_p.V129D|MYOT_ENST00000239926.4_Missense_Mutation_p.V313D|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA			Q9UBF9	MYOTI_HUMAN	myotilin	313					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTGAAGTAGTCAGAGCTTCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	102	104			NA	NA	5		NA											NA				137219194		2203	4300	6503	SO:0001583	missense			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729	9499	9499		Immunoglobulin superfamily / I-set domain containing	12399	protein-coding gene	gene with protein product		604103	titin immunoglobulin domain protein (myotilin), limb-girdle muscular dystrophy 1A (autosomal dominant)	TTID, LGMD1A, LGMD1	NA	10486214, 10369880	Standard	NM_006790	NM_006790	NA	Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000515645.1:c.593T>A	5.37:g.137219194T>A	ENSP00000426281:p.Val198Asp	NA	A0A4R6	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.221755	0.79464	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.72505	-0.66;-0.66;-0.66	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000032	D	0.88276	0.6393	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.91887	0.5520	10	0.87932	D	0	.	15.1564	0.72746	0.0:0.0:0.0:1.0	.	313	Q9UBF9	MYOTI_HUMAN	D	313;129;198	ENSP00000239926:V313D;ENSP00000391185:V129D;ENSP00000426281:V198D	ENSP00000239926:V313D	V	+	2	0	MYOT	137247093	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.191000	0.72063	2.021000	0.59480	0.533000	0.62120	GTC	MYOT-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000372398.1		+	ENST00000515645.1	Missense_Mutation	SNP	5 : 137219194 - 137219194 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	318	47
NAP1L3	4675	broad.mit.edu	37	X	92926869	92926869	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:92926869T>C	ENST00000373079.3	-	1	1698	c.1435A>G	c.(1435-1437)Aaa>Gaa	p.K479E	NAP1L3_ENST00000475430.2_Missense_Mutation_p.K472E	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	479					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGATTGATTTCAGGATGACA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	62	65			NA	NA	X		NA											NA				92926869		2203	4300	6503	SO:0001583	missense				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310	4675	4675			7639	protein-coding gene	gene with protein product		300117			NA	8976385	Standard	NM_004538	NM_004538	NA	Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1435A>G	X.37:g.92926869T>C	ENSP00000362171:p.Lys479Glu	NA	B2RCM0|O60788	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902300	0.33628	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.25912	1.77	3.42	3.42	0.39159	.	0.053033	0.64402	D	0.000001	T	0.34774	0.0909	L	0.46947	1.48	0.09310	N	1	D	0.63046	0.992	D	0.64410	0.925	T	0.07385	-1.0775	10	0.62326	D	0.03	.	4.6798	0.12729	0.0:0.1434:0.0:0.8566	.	479	Q99457	NP1L3_HUMAN	E	479;472	ENSP00000362171:K479E	ENSP00000362171:K479E	K	-	1	0	NAP1L3	92813525	0.998000	0.40836	0.715000	0.30552	0.719000	0.41307	1.448000	0.35112	1.588000	0.49971	0.430000	0.28490	AAA	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057449.1		-	ENST00000373079.3	Missense_Mutation	SNP	X : 92926869 - 92926869 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	132	5
NOX4	50507	broad.mit.edu	37	11	89133524	89133524	+	Silent	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:89133524A>G	ENST00000535633.1	-	10	1108	c.798T>C	c.(796-798)ccT>ccC	p.P266P	NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000527956.1_Silent_p.P266P|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000424319.1_Silent_p.P266P|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000263317.4_Silent_p.P290P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000532825.1_Silent_p.P266P|NOX4_ENST00000527626.1_Silent_p.P124P	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	290	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACAGGCACAAAGGTCCAGAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	47			NA	NA	11		NA											NA				89133524		2201	4299	6500	SO:0001819	synonymous_variant			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991	50507	50507			7891	protein-coding gene	gene with protein product		605261			NA		Standard	NM_016931	NM_001143837	NA	Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000535633.1:c.798T>C	11.37:g.89133524A>G		NA	A8K715|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	37	CCDS44696.1																																																																																			NOX4-203	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394051.1		-	ENST00000535633.1	Silent	SNP	11 : 89133524 - 89133524 G PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	255	12
OR4C15	81309	broad.mit.edu	37	11	55322649	55322649	+	Silent	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322649T>A	ENST00000314644.2	+	1	867	c.867T>A	c.(865-867)gcT>gcA	p.A289A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCTGGAAAGCTCTCTCCACCT	0.438		NA								HNSCC(20;0.049)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													232	216	222			NA	NA	11		NA											NA				55322649		2201	4296	6497	SO:0001819	synonymous_variant			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939	81309	81309		GPCR / Class A : Olfactory receptors	15171	protein-coding gene	gene with protein product					NA		Standard	NM_001001920	NM_001001920	NA	Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.867T>A	11.37:g.55322649T>A		NA	Q6IFE2	37	CCDS31501.1																																																																																			OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391164.1		+	ENST00000314644.2	Silent	SNP	11 : 55322649 - 55322649 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	553	224
OR4C15	81309	broad.mit.edu	37	11	55322650	55322650	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322650C>A	ENST00000314644.2	+	1	868	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGGAAAGCTCTCTCCACCTG	0.433		NA								HNSCC(20;0.049)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	217	223			NA	NA	11		NA											NA				55322650		2201	4296	6497	SO:0001583	missense			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939	81309	81309		GPCR / Class A : Olfactory receptors	15171	protein-coding gene	gene with protein product					NA		Standard	NM_001001920	NM_001001920	NA	Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.868C>A	11.37:g.55322650C>A	ENSP00000324958:p.Leu290Ile	NA	Q6IFE2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141818	0.37825	.	.	ENSG00000181939	ENST00000314644	T	0.00137	8.68	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.81682	2.555	0.25891	N	0.983471	P	0.44195	0.828	P	0.48524	0.58	T	0.42965	-0.9420	9	0.87932	D	0	.	9.2831	0.37740	0.0:0.9041:0.0:0.0959	.	236	Q8NGM1	OR4CF_HUMAN	I	290	ENSP00000324958:L290I	ENSP00000324958:L290I	L	+	1	0	OR4C15	55079226	0.000000	0.05858	0.971000	0.41717	0.282000	0.26991	-0.491000	0.06474	2.608000	0.88229	0.385000	0.25706	CTC	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391164.1		+	ENST00000314644.2	Missense_Mutation	SNP	11 : 55322650 - 55322650 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	552	224
PCDH17	27253	broad.mit.edu	37	13	58298909	58298909	+	Silent	SNP	C	C	T	rs138830034	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:58298909C>T	ENST00000377918.3	+	4	2987	c.2961C>T	c.(2959-2961)taC>taT	p.Y987Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	987					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGAGACTTACGAAACTGTGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(72;952 1291 1619 12849 33676)							NA				0								C		0,4406		0,0,2203	107	103	104		2961	-0.3	1	13	dbSNP_134	104	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	PCDH17	NM_001040429.2		0,7,6496	TT,TC,CC	NA	0.0814,0.0,0.0538		987/1160	58298909	7,12999	2203	4300	6503	SO:0001819	synonymous_variant			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946	27253	27253		Cadherins / Protocadherins : Non-clustered	14267	protein-coding gene	gene with protein product		611760			NA	10835267	Standard	NM_001040429	NM_001040429	NA	Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2961C>T	13.37:g.58298909C>T		NA	A8K1R5|Q5VVW9|Q5VVX0	37	CCDS31986.1																																																																																			PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045139.1		+	ENST00000377918.3	Silent	SNP	13 : 58298909 - 58298909 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	345	110
PGBD2	267002	broad.mit.edu	37	1	249211293	249211293	+	Silent	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:249211293C>A	ENST00000329291.5	+	3	657	c.510C>A	c.(508-510)gtC>gtA	p.V170V	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Silent_p.V167V	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	170										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAAAAATGTCAATTTGAGTC	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	135	134			NA	NA	1		NA											NA				249211293		2203	4300	6503	SO:0001819	synonymous_variant			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220	NA	267002			19399	protein-coding gene	gene with protein product					NA		Standard		XM_005270333	NA	Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.510C>A	1.37:g.249211293C>A		NA	B3KVR8|Q6MZF8	37	CCDS31128.1																																																																																			PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097318.1		+	ENST00000329291.5	Silent	SNP	1 : 249211293 - 249211293 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	658	22
PRC1	9055	broad.mit.edu	37	15	91527307	91527308	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:91527307_91527308insT	ENST00000361188.5	-	3	1418_1419	c.207_208insA	c.(205-210)atatccfs	p.S70fs	PRC1_ENST00000556129.1_5'UTR|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Frame_Shift_Ins_p.S70fs|PRC1_ENST00000361919.3_Frame_Shift_Ins_p.S70fs|PRC1_ENST00000442656.2_Intron			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	70	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TGACAGACGGATATGCTTTTGA	0.49		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901	9055	9055			9341	protein-coding gene	gene with protein product	anaphase spindle elongation 1 homolog (S. cerevisiae)	603484			NA	9885575	Standard	NM_003981	NM_003981	NA	Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.208dupA	15.37:g.91527308_91527308dupT	ENSP00000354679:p.Ser70fs	NA	A6NC44|B4DLR1|Q9BSB6	37	CCDS45352.1																																																																																			PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414760.1		-	ENST00000361188.5	Frame_Shift_Ins	INS	15 : 91527307 - 91527308 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	1234	462
PREX2	80243	broad.mit.edu	37	8	68981315	68981315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:68981315C>T	ENST00000288368.4	+	12	1664	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	463	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R463C(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATATAGATTTCGCTATGATGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	skin(2)											76	71	73			NA	NA	8		NA											NA				68981315		2203	4300	6503	SO:0001583	missense			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889	80243	80243		Rho guanine nucleotide exchange factors	22950	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 129	612139	DEP domain containing 2	DEPDC2	NA	15304342, 15304343	Standard	NM_025170	NM_024870	NA	Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1387C>T	8.37:g.68981315C>T	ENSP00000288368:p.Arg463Cys	NA	Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751767	0.89753	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.14391	2.51	5.72	4.84	0.62591	DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.996	T	0.08576	-1.0715	10	0.87932	D	0	.	15.0201	0.71624	0.0:0.9317:0.0:0.0683	.	463;463;463	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	C	463	ENSP00000288368:R463C	ENSP00000288368:R463C	R	+	1	0	PREX2	69143869	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.566000	0.82347	1.559000	0.49555	0.650000	0.86243	CGC	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378620.1		+	ENST00000288368.4	Missense_Mutation	SNP	8 : 68981315 - 68981315 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	235	88
PTCHD2	57540	broad.mit.edu	37	1	11561859	11561859	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:11561859C>T	ENST00000294484.6	+	2	948	c.810C>T	c.(808-810)caC>caT	p.H270H	PTCHD2_ENST00000389575.3_Silent_p.H270H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	270					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCAGACGCACGCGCACTGGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	16	15			NA	NA	1		NA											NA				11561859		2024	4164	6188	SO:0001819	synonymous_variant			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624	57540	57540			29251	protein-coding gene	gene with protein product		611251			NA	15738394	Standard	XM_052561	NM_020780	NA	Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.810C>T	1.37:g.11561859C>T		NA	Q5VTU9|Q9UJD6	37	CCDS41247.1																																																																																			PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005770.2		+	ENST00000294484.6	Silent	SNP	1 : 11561859 - 11561859 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	79	52
RERG	85004	broad.mit.edu	37	12	15262086	15262086	+	Silent	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:15262086G>T	ENST00000256953.2	-	5	894	c.558C>A	c.(556-558)gtC>gtA	p.V186V	RERG_ENST00000536465.1_Silent_p.V186V|RERG_ENST00000538313.1_Silent_p.V186V|RERG_ENST00000546331.1_Silent_p.V167V	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	186					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TGGCTTGCTTGACATGCGTGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	118	120			NA	NA	12		NA											NA				15262086		2203	4300	6503	SO:0001819	synonymous_variant			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533	85004	85004			15980	protein-coding gene	gene with protein product		612664			NA	11533059	Standard	NM_032918	NM_032918	NA	Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.558C>A	12.37:g.15262086G>T		NA	B2R9R0	37	CCDS8673.1																																																																																			RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400882.1		-	ENST00000256953.2	Silent	SNP	12 : 15262086 - 15262086 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	858	16
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	2098	11
RILPL2	196383	broad.mit.edu	37	12	123907604	123907604	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:123907604T>A	ENST00000280571.8	-	3	888	c.592A>T	c.(592-594)Atc>Ttc	p.I198F		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	198						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TTTTTTATGATTGTCTTCTCC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	172	179			NA	NA	12		NA											NA				123907604		2203	4300	6503	SO:0001583	missense			AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977	196383	196383			28787	protein-coding gene	gene with protein product		614093			NA	14668488	Standard	NM_145058	NM_145058	NA	Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.592A>T	12.37:g.123907604T>A	ENSP00000280571:p.Ile198Phe	NA		37	CCDS9248.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342477	0.41498	.	.	ENSG00000150977	ENST00000280571	T	0.45668	0.89	5.0	3.85	0.44370	.	0.229969	0.44688	D	0.000439	T	0.32224	0.0822	L	0.29908	0.895	0.38433	D	0.946505	P	0.49961	0.93	P	0.44860	0.462	T	0.14392	-1.0474	10	0.48119	T	0.1	.	8.3232	0.32140	0.0:0.0913:0.0:0.9087	.	198	Q969X0	RIPL2_HUMAN	F	198	ENSP00000280571:I198F	ENSP00000280571:I198F	I	-	1	0	RILPL2	122473557	0.981000	0.34729	0.610000	0.28997	0.063000	0.16089	1.962000	0.40442	0.858000	0.35431	0.533000	0.62120	ATC	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000280571.8	Missense_Mutation	SNP	12 : 123907604 - 123907604 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	321	6
RP4-583P15.15	0	broad.mit.edu	37	20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:62365008A>G	ENST00000490623.2	+	3	505	c.505A>G	c.(505-507)Acg>Gcg	p.T169A	ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000328969.5_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR						NA											NA						GTGGAGGGGGACGGCATCCTG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	130	132			NA	NA	20		NA											NA				62365008		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000490623.2:c.505A>G	20.37:g.62365008A>G	ENSP00000476393:p.Thr169Ala	NA		37		.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC	RP4-583P15.15-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000473237.1		+	ENST00000490623.2	Missense_Mutation	SNP	20 : 62365008 - 62365008 G PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	891	7
RPIA	22934	broad.mit.edu	37	2	89035229	89035229	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:89035229C>A	ENST00000283646.4	+	6	626	c.571C>A	c.(571-573)Cgc>Agc	p.R191S		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	191					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTATGCTAGTCGCTTCATCGT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													194	189	191			NA	NA	2		NA											NA				89035229		1978	4159	6137	SO:0001583	missense			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	22934	22934	5.3.1.6		10297	protein-coding gene	gene with protein product	ribose 5-phosphate epimerase	180430			NA	7758956	Standard		NM_144563	NA	Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.571C>A	2.37:g.89035229C>A	ENSP00000283646:p.Arg191Ser	NA	Q541P9|Q96BJ6	37	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793754	0.31685	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.77620	-1.11	5.79	3.98	0.46160	.	0.576251	0.20930	N	0.083101	T	0.67702	0.2921	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.17433	0.018	T	0.58781	-0.7576	10	0.49607	T	0.09	-1.4737	5.0953	0.14729	0.1406:0.5898:0.0:0.2696	.	191	P49247	RPIA_HUMAN	S	191;57	ENSP00000283646:R191S	ENSP00000283646:R191S	R	+	1	0	RPIA	88816344	0.021000	0.18746	0.972000	0.41901	0.690000	0.40134	0.204000	0.17335	1.449000	0.47699	0.655000	0.94253	CGC	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252683.2		+	ENST00000283646.4	Missense_Mutation	SNP	2 : 89035229 - 89035229 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	958	14
RTKN	6242	broad.mit.edu	37	2	74654657	74654657	+	Silent	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:74654657G>A	ENST00000233330.6	-	10	1316	c.999C>T	c.(997-999)atC>atT	p.I333I	RTKN_ENST00000305557.5_Silent_p.I370I|RTKN_ENST00000272430.5_Silent_p.I383I	NM_001015056.1	NP_001015056.1	Q9BST9	RTKN_HUMAN	rhotekin	383	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						ACTGGTTACTGATGCTTAGGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													195	205	202			NA	NA	2		NA											NA				74654657		2203	4300	6503	SO:0001819	synonymous_variant			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993	6242	6242		Pleckstrin homology (PH) domain containing	10466	protein-coding gene	gene with protein product		602288			NA	9073523, 10940294	Standard	NM_001015055	XM_005264478	NA	Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.999C>T	2.37:g.74654657G>A		NA	Q8WVN1|Q96PT6|Q9HB05	37	CCDS42699.1																																																																																			RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328236.3		-	ENST00000233330.6	Silent	SNP	2 : 74654657 - 74654657 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	889	190
RYR2	6262	broad.mit.edu	37	1	237995882	237995882	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:237995882A>T	ENST00000366574.2	+	105	15156	c.14839A>T	c.(14839-14841)Agg>Tgg	p.R4947W	RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W|RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTATCAAGAAAGGTGTTGGGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	89	90			NA	NA	1		NA											NA				237995882		1860	4127	5987	SO:0001583	missense			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	6262	6262		Ion channels / Ryanodine receptors, EF-hand domain containing	10484	protein-coding gene	gene with protein product		180902	arrhythmogenic right ventricular dysplasia 2	ARVD2	NA	2380170, 8406504, 11159936	Standard	NM_001035	NM_001035	NA	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14839A>T	1.37:g.237995882A>T	ENSP00000355533:p.Arg4947Trp	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333129	0.60853	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97232	-4.3;-4.26;-4.29	5.16	4.0	0.46444	.	0.000000	0.56097	D	0.000025	D	0.98460	0.9487	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98802	1.0740	10	0.87932	D	0	-17.2433	11.8212	0.52238	0.7051:0.2949:0.0:0.0	.	4947	Q92736	RYR2_HUMAN	W	4947;4953;4931	ENSP00000355533:R4947W;ENSP00000353174:R4953W;ENSP00000443798:R4931W	ENSP00000353174:R4953W	R	+	1	2	RYR2	236062505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.605000	0.46283	0.932000	0.37266	0.533000	0.62120	AGG	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237995882 - 237995882 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	155	8
SAMD9	54809	broad.mit.edu	37	7	92731348	92731348	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:92731348G>T	ENST00000379958.2	-	3	4332	c.4063C>A	c.(4063-4065)Caa>Aaa	p.Q1355K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1355						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCATCCTCTTGACTTTTGATA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	102	100			NA	NA	7		NA											NA				92731348		2203	4298	6501	SO:0001583	missense			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413	54809	54809		Sterile alpha motif (SAM) domain containing	1348	protein-coding gene	gene with protein product		610456	chromosome 7 open reading frame 5	C7orf5	NA		Standard	NM_017654	NM_017654	NA	Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4063C>A	7.37:g.92731348G>T	ENSP00000369292:p.Gln1355Lys	NA	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211119	0.09757	.	.	ENSG00000205413	ENST00000379958	T	0.22743	1.94	4.41	4.41	0.53225	.	0.467007	0.18738	N	0.132534	T	0.14141	0.0342	N	0.25647	0.755	0.09310	N	0.999993	B	0.33694	0.421	B	0.29862	0.108	T	0.13495	-1.0507	10	0.10636	T	0.68	-3.4161	16.0645	0.80861	0.0:0.0:1.0:0.0	.	1355	Q5K651	SAMD9_HUMAN	K	1355	ENSP00000369292:Q1355K	ENSP00000369292:Q1355K	Q	-	1	0	SAMD9	92569284	0.011000	0.17503	0.073000	0.20177	0.115000	0.19883	1.580000	0.36547	2.424000	0.82194	0.603000	0.83216	CAA	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341761.1		-	ENST00000379958.2	Missense_Mutation	SNP	7 : 92731348 - 92731348 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	967	18
SDCCAG8	10806	broad.mit.edu	37	1	243507631	243507631	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:243507631C>A	ENST00000366541.3	+	12	1589	c.1471C>A	c.(1471-1473)Cag>Aag	p.Q491K	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	491	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AATTAAAGATCAGGTAAGAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	86	87			NA	NA	1		NA											NA				243507631		2203	4300	6503	SO:0001583	missense			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282	10806	10806			10671	protein-coding gene	gene with protein product		613524			NA	9610721, 20835237	Standard	NM_006642	NM_006642	NA	Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1471C>A	1.37:g.243507631C>A	ENSP00000355499:p.Gln491Lys	NA	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	37	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072404	0.55646	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.57273	0.7;0.66;0.66;0.41	6.07	5.16	0.70880	.	0.129373	0.52532	D	0.000063	T	0.39886	0.1095	L	0.29908	0.895	0.47245	D	0.999362	B;B	0.25441	0.075;0.126	B;B	0.28638	0.092;0.092	T	0.19614	-1.0300	10	0.15499	T	0.54	-7.4048	12.343	0.55105	0.1339:0.7375:0.1286:0.0	.	448;491	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	448;491;346;271	ENSP00000348137:Q448K;ENSP00000355499:Q491K;ENSP00000341260:Q346K;ENSP00000410200:Q271K	ENSP00000341260:Q346K	Q	+	1	0	SDCCAG8	241574254	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	1.566000	0.49654	0.585000	0.79938	CAG	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096485.1		+	ENST00000366541.3	Missense_Mutation	SNP	1 : 243507631 - 243507631 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	273	39
SF3B1	23451	broad.mit.edu	37	2	198265629	198265629	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198265629T>C	ENST00000335508.6	-	18	2619	c.2528A>G	c.(2527-2529)aAa>aGa	p.K843R		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	NA					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGCACCTACTTTGTTTGCCAA	0.348		NA	Mis		myelodysplastic syndrome									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q33.1	23451	splicing factor 3b, subunit 1, 155kDa		L	0													84	83	84			NA	NA	2		NA											NA				198265629		2203	4299	6502	SO:0001583	missense			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	23451	23451			10768	protein-coding gene	gene with protein product		605590	splicing factor 3b, subunit 1, 155kD		NA	9585501	Standard		XM_005246428	NA	Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2528A>G	2.37:g.198265629T>C	ENSP00000335321:p.Lys843Arg	NA		37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581538	0.65992	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.76433	2.335	0.80722	D	1	B	0.28082	0.2	B	0.36030	0.216	T	0.68447	-0.5406	10	0.52906	T	0.07	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	843	O75533	SF3B1_HUMAN	R	843	ENSP00000335321:K843R	ENSP00000335321:K843R	K	-	2	0	SF3B1	197973874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.936000	0.87665	2.326000	0.78906	0.533000	0.62120	AAA	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335245.2		-	ENST00000335508.6	Missense_Mutation	SNP	2 : 198265629 - 198265629 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	374	84
SF3B1	23451	broad.mit.edu	37	2	198266713	198266713	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198266713C>T	ENST00000335508.6	-	15	2310	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	NA					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.G740E(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTACCTTTCCTCTGTGTTG	0.343		NA	Mis		myelodysplastic syndrome									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q33.1	23451	splicing factor 3b, subunit 1, 155kDa		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											87	83	85			NA	NA	2		NA											NA				198266713		2203	4300	6503	SO:0001583	missense			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	23451	23451			10768	protein-coding gene	gene with protein product		605590	splicing factor 3b, subunit 1, 155kD		NA	9585501	Standard		XM_005246428	NA	Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2219G>A	2.37:g.198266713C>T	ENSP00000335321:p.Gly740Glu	NA		37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036521	0.93630	.	.	ENSG00000115524	ENST00000335508	T	0.62364	0.03	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.107844	0.64402	D	0.000005	T	0.76449	0.3989	M	0.83692	2.655	0.80722	D	1	D	0.55800	0.973	P	0.51974	0.686	T	0.80183	-0.1488	10	0.66056	D	0.02	.	19.5659	0.95393	0.0:1.0:0.0:0.0	.	740	O75533	SF3B1_HUMAN	E	740	ENSP00000335321:G740E	ENSP00000335321:G740E	G	-	2	0	SF3B1	197974958	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.359000	0.79477	2.619000	0.88677	0.563000	0.77884	GGA	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335245.2		-	ENST00000335508.6	Missense_Mutation	SNP	2 : 198266713 - 198266713 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	347	85
SPAG17	200162	broad.mit.edu	37	1	118609502	118609502	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:118609502C>T	ENST00000336338.5	-	18	2471	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	802						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACCTATATTGCTTATGGGCTT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	97	98			NA	NA	1		NA											NA				118609502		2203	4300	6503	SO:0001819	synonymous_variant				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761	200162	200162			26620	protein-coding gene	gene with protein product					NA		Standard	NM_206996	NM_206996	NA	Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2406G>A	1.37:g.118609502C>T		NA	Q8NAZ1|Q9NT21	37	CCDS899.1																																																																																			SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033723.1		-	ENST00000336338.5	Silent	SNP	1 : 118609502 - 118609502 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	344	191
TBC1D1	23216	broad.mit.edu	37	4	38134830	38134830	+	Silent	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:38134830C>T	ENST00000261439.4	+	19	3613	c.3258C>T	c.(3256-3258)acC>acT	p.T1086T	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.T1077T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1086						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TAGAGAAAACCAACAGCAGCT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	106			NA	NA	4		NA											NA				38134830		2203	4300	6503	SO:0001819	synonymous_variant			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882	23216	23216			11578	protein-coding gene	gene with protein product		609850			NA	10965142, 18258599	Standard	NM_015173	NM_015173	NA	Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3258C>T	4.37:g.38134830C>T		NA	Q96K82|Q9UPP4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197786	0.22037	.	.	ENSG00000065882	ENST00000510573	.	.	.	4.97	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.4575	6.939	0.24483	0.2837:0.6293:0.0:0.087	.	.	.	.	X	774	.	.	Q	+	1	0	TBC1D1	37811225	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.306000	0.43673	1.445000	0.47624	0.655000	0.94253	CAA	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317443.2		+	ENST00000261439.4	Silent	SNP	4 : 38134830 - 38134830 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	220	15
TEP1	7011	broad.mit.edu	37	14	20841221	20841221	+	Silent	SNP	T	T	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:20841221T>C	ENST00000556935.1	-	46	6615	c.6576A>G	c.(6574-6576)caA>caG	p.Q2192Q	TEP1_ENST00000262715.5_Silent_p.Q2300Q|TEP1_ENST00000545983.1_Silent_p.Q638Q			Q99973	TEP1_HUMAN	telomerase-associated protein 1	2300					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTTCCCCAGCTTGATTTCCAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	77	77			NA	NA	14		NA											NA				20841221		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566	7011	7011		WD repeat domain containing	11726	protein-coding gene	gene with protein product	TROVE domain family, member 1	601686			NA	9403057	Standard	NM_007110	NM_007110	NA	Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000556935.1:c.6576A>G	14.37:g.20841221T>C		NA	A0AUV9	37		.	.	.	.	.	.	.	.	.	.	T	8.134	0.783739	0.16189	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	0.76	0.18442	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.21719	N	0.999572	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	-0.0235	7.2173	0.25967	0.0:0.4669:0.0:0.5331	.	.	.	.	G	7	.	.	S	-	1	0	TEP1	19911061	0.053000	0.20554	0.110000	0.21437	0.973000	0.67179	0.124000	0.15728	0.135000	0.18707	0.533000	0.62120	AGC	TEP1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410689.1		-	ENST00000556935.1	Silent	SNP	14 : 20841221 - 20841221 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	300	101
THBS3	7059	broad.mit.edu	37	1	155170966	155170966	+	Translation_Start_Site	SNP	G	G	A	rs150820199	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:155170966G>A	ENST00000368378.3	-	12	1379	c.1359C>T	c.(1357-1359)aaC>aaT	p.N453N	THBS3_ENST00000457183.2_Silent_p.N333N|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_De_novo_Start_OutOfFrame|THBS3_ENST00000541576.1_Intron	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	453	EGF-like 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.N453N(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCACACACGTTCCCATTCC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)						G		1,4405	2.1+/-5.4	0,1,2202	204	165	178		1359	0.4	1	1	dbSNP_134	178	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	THBS3	NM_007112.3		0,3,6500	AA,AG,GG	NA	0.0233,0.0227,0.0231		453/957	155170966	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231	7059	7059			11787	protein-coding gene	gene with protein product		188062			NA	1601886	Standard	NM_007112	NM_007112	NA	Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1359C>T	1.37:g.155170966G>A		NA	B1AVR8|Q8WV34	37	CCDS1099.1																																																																																			THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086856.1		-	ENST00000368378.3	Silent	SNP	1 : 155170966 - 155170966 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	480	8
TMPRSS11D	9407	broad.mit.edu	37	4	68725370	68725370	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:68725370C>T	ENST00000283916.6	-	2	133	c.35G>A	c.(34-36)aGa>aAa	p.R12K	TMPRSS11D_ENST00000545541.1_Intron|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	12					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCAGAAATCTTGAAGTCGA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	88	91			NA	NA	4		NA											NA				68725370		2203	4300	6503	SO:0001583	missense			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802	9407	9407		Serine peptidases / Transmembrane	24059	protein-coding gene	gene with protein product	airway trypsin like protease	605369			NA	9565616, 9070615	Standard	NM_004262	XM_005265710	NA	Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.35G>A	4.37:g.68725370C>T	ENSP00000283916:p.Arg12Lys	NA	Q08AF6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905995	0.72868	.	.	ENSG00000153802	ENST00000283916	D	0.88046	-2.33	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000010	D	0.89529	0.6741	L	0.61387	1.9	0.80722	D	1	D	0.67145	0.996	P	0.54759	0.76	D	0.88677	0.3199	10	0.41790	T	0.15	.	14.0925	0.65000	0.0:1.0:0.0:0.0	.	12	O60235	TM11D_HUMAN	K	12	ENSP00000283916:R12K	ENSP00000283916:R12K	R	-	2	0	TMPRSS11D	68407965	1.000000	0.71417	0.997000	0.53966	0.591000	0.36615	1.993000	0.40747	2.704000	0.92352	0.563000	0.77884	AGA	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251430.3		-	ENST00000283916.6	Missense_Mutation	SNP	4 : 68725370 - 68725370 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	293	75
UBBP4	23666	broad.mit.edu	37	17	21730846	21730846	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:21730846C>T	ENST00000584755.1	+	2	545	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50W|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4	NA										endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGGCAAGCAGCGGGAAGATGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			X07499		17p11.2	2011-08-10				ENSG00000263563	23666	23666			12467	pseudogene	pseudogene					NA	2834222	Standard		NG_002285	NA	Approved		uc002gyy.3			ENST00000584755.1:c.148C>T	17.37:g.21730846C>T	ENSP00000463647:p.Arg50Trp	NA		37																																																																																				UBBP4-001	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000444585.1		+	ENST00000584755.1	Missense_Mutation	SNP	17 : 21730846 - 21730846 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	196	66
YEATS4	8089	broad.mit.edu	37	12	69759611	69759611	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:69759611G>T	ENST00000247843.2	+	4	550	c.280G>T	c.(280-282)Ggt>Tgt	p.G94C	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	94	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AACAGGATGGGGTGAATTCGA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	79	78			NA	NA	12		NA											NA				69759611		2203	4292	6495	SO:0001583	missense			AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337	8089	8089			24859	protein-coding gene	gene with protein product		602116			NA	9302258, 11903063	Standard	NM_006530	XM_005269163	NA	Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.280G>T	12.37:g.69759611G>T	ENSP00000247843:p.Gly94Cys	NA	Q9NQD0	37	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955700	0.92726	.	.	ENSG00000127337	ENST00000247843;ENST00000549685;ENST00000552955	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93595	0.6925	8	.	.	.	-13.6897	20.0429	0.97598	0.0:0.0:1.0:0.0	.	94	O95619	YETS4_HUMAN	C	94;36;135	.	.	G	+	1	0	YEATS4	68045878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.146000	0.94640	2.812000	0.96745	0.555000	0.69702	GGT	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403663.1		+	ENST00000247843.2	Missense_Mutation	SNP	12 : 69759611 - 69759611 T PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	983	10
ZNF606	80095	broad.mit.edu	37	19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	89			NA	NA	19		NA											NA				58490276		2203	4300	6503	SO:0001583	missense			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704	80095	80095		Zinc fingers, C2H2-type, -	25879	protein-coding gene	gene with protein product		613905		ZNF328	NA	11347906	Standard	NM_025027	XM_005259276	NA	Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1772C>T	19.37:g.58490276G>A	ENSP00000343617:p.Thr591Met	NA	A8KAN2|Q8NE04|Q96JH5	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647444	0.47258	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134588	0.34676	N	0.003775	T	0.53530	0.1802	M	0.79926	2.475	0.46416	D	0.999034	D	0.89917	1.0	D	0.68765	0.96	T	0.58973	-0.7541	10	0.87932	D	0	.	17.3812	0.87405	0.0:0.0:1.0:0.0	.	591	Q8WXB4	ZN606_HUMAN	M	591;501	ENSP00000343617:T591M;ENSP00000445624:T501M	ENSP00000343617:T591M	T	-	2	0	ZNF606	63182088	0.994000	0.37717	0.995000	0.50966	0.976000	0.68499	2.147000	0.42226	2.706000	0.92434	0.561000	0.74099	ACG	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405961.1		-	ENST00000341164.4	Missense_Mutation	SNP	19 : 58490276 - 58490276 A PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	385	13
ZNF90	7643	broad.mit.edu	37	19	20215121	20215121	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:20215121A>C	ENST00000418063.2	+	2	189	c.77A>C	c.(76-78)cAg>cCg	p.Q26P	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	26	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACTGCACAGCAGAATTTATAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988	7643	7643		Zinc fingers, C2H2-type, -	13165	protein-coding gene	gene with protein product		603973	zinc finger protein 90 (HTF9)		NA	8467795	Standard	NM_007138	NM_007138	NA	Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.77A>C	19.37:g.20215121A>C	ENSP00000410466:p.Gln26Pro	NA	B9EH87	37	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806870	0.16467	.	.	ENSG00000213988	ENST00000418063	T	0.01854	4.6	1.11	-0.486	0.12064	Krueppel-associated box (4);	.	.	.	.	T	0.05044	0.0135	M	0.87900	2.915	0.09310	N	1	B	0.24576	0.106	B	0.28385	0.089	T	0.26087	-1.0113	9	0.87932	D	0	.	5.4433	0.16521	0.6311:0.0:0.3689:0.0	.	26	Q03938	ZNF90_HUMAN	P	26	ENSP00000410466:Q26P	ENSP00000410466:Q26P	Q	+	2	0	ZNF90	20076121	0.004000	0.15560	0.262000	0.24481	0.258000	0.26162	-0.724000	0.04947	-1.315000	0.02297	-1.160000	0.01791	CAG	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350101.1		+	ENST00000418063.2	Missense_Mutation	SNP	19 : 20215121 - 20215121 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	575	22
ZNF99	7652	broad.mit.edu	37	19	22940990	22940990	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:22940990A>C	ENST00000596209.1	-	4	1811	c.1721T>G	c.(1720-1722)tTt>tGt	p.F574C	ZNF99_ENST00000397104.3_Missense_Mutation_p.F483C	NM_001080409.2	NP_001073878.2			zinc finger protein 99	NA										NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGATTGCTTAAAAGCTTTGCC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	52			NA	NA	19		NA											NA				22940990		2094	4233	6327	SO:0001583	missense			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973	7652	7652		Zinc fingers, C2H2-type, -	13175	protein-coding gene	gene with protein product		603981	zinc finger protein 99 (F8281), chromosome 19 open reading frame 9	C19orf9	NA		Standard	XM_065124	NM_001080409	NA	Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1721T>G	19.37:g.22940990A>C	ENSP00000472969:p.Phe574Cys	NA		37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	10.29	1.308831	0.23821	.	.	ENSG00000213973	ENST00000397104	T	0.45668	0.89	1.44	0.101	0.14517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63570	0.2522	M	0.88377	2.95	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51348	-0.8717	9	0.66056	D	0.02	.	5.428	0.16438	0.7506:0.0:0.0:0.2493	.	483	A8MXY4	ZNF99_HUMAN	C	483	ENSP00000380293:F483C	ENSP00000380293:F483C	F	-	2	0	ZNF99	22732830	0.978000	0.34361	0.001000	0.08648	0.011000	0.07611	4.718000	0.61930	-0.219000	0.10003	0.163000	0.16589	TTT	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464591.1		-	ENST00000596209.1	Missense_Mutation	SNP	19 : 22940990 - 22940990 C PAAD-TCGA-IB-A7LX-Tumor-SM-5KWXQ	314	119
