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
ABCB5	340273	broad.mit.edu	37	7	20793112	20793112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:20793112G>A	ENST00000404938.2	+	27	4211	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	742					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGCCCTCGATAATGACAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	94	93			NA	NA	7		NA											NA				20793112		2203	4300	6503	SO:0001583	missense			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846	340273	340273		ATP binding cassette transporters / subfamily B	46	protein-coding gene	gene with protein product	P-glycoprotein ABCB5, ATP-binding cassette protein	611785			NA	8894702, 12960149	Standard	NM_178559	NM_001163942	NA	Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3559G>A	7.37:g.20793112G>A	ENSP00000384881:p.Asp1187Asn	NA	A4D131|B7WPL1|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614824	0.87359	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.95756	-3.8;-3.8	5.16	4.26	0.50523	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.56097	D	0.000024	D	0.98169	0.9395	H	0.96365	3.81	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.913	D	0.98395	1.0565	10	0.87932	D	0	.	13.0851	0.59135	0.0806:0.0:0.9194:0.0	.	1187;742	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	N	1187;742	ENSP00000384881:D1187N;ENSP00000258738:D742N	ENSP00000258738:D742N	D	+	1	0	ABCB5	20759637	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.641000	0.83368	2.683000	0.91414	0.555000	0.69702	GAT	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326736.2		+	ENST00000404938.2	Missense_Mutation	SNP	7 : 20793112 - 20793112 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	510	70
ACR	49	broad.mit.edu	37	22	51182600	51182600	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr22:51182600C>T	ENST00000216139.5	+	4	717	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	226	Peptidase S1.			A -> V (in Ref. 3).	acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AATGTGTGCGCGGGGTATCCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	122	128			NA	NA	22		NA											NA				51182600		2203	4300	6503	SO:0001583	missense			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	49	49	3.4.21.10		126	protein-coding gene	gene with protein product	preproacrosin, acrosin light and heavy chain prepropeptide	102480			NA	2298447, 12398221	Standard	NM_001097	NM_001097	NA	Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.677C>T	22.37:g.51182600C>T	ENSP00000216139:p.Ala226Val	NA	Q6ICK2	37	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	13.55	2.272141	0.40194	.	.	ENSG00000100312	ENST00000216139	D	0.91124	-2.79	4.48	3.44	0.39384	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000561	D	0.93455	0.7912	M	0.75884	2.315	0.32305	N	0.564555	D	0.89917	1.0	D	0.91635	0.999	D	0.92392	0.5922	10	0.66056	D	0.02	-19.6881	7.0808	0.25229	0.0:0.7985:0.0:0.2014	.	226	P10323	ACRO_HUMAN	V	226	ENSP00000216139:A226V	ENSP00000216139:A226V	A	+	2	0	ACR	49529466	0.988000	0.35896	0.865000	0.33974	0.031000	0.12232	3.250000	0.51445	2.335000	0.79485	0.450000	0.29827	GCG	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316605.2		+	ENST00000216139.5	Missense_Mutation	SNP	22 : 51182600 - 51182600 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	384	8
ADAM2	2515	broad.mit.edu	37	8	39646232	39646232	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:39646232C>A	ENST00000379853.2	-	7	538				ADAM2_ENST00000265708.4_Missense_Mutation_p.V200F|ADAM2_ENST00000347580.4_Missense_Mutation_p.V181F|ADAM2_ENST00000521880.1_Missense_Mutation_p.V200F			Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	NA					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGAGCGACAACAGTTGTATCA	0.274		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	85	88			NA	NA	8		NA											NA				39646232		2203	4300	6503	SO:0001627	intron_variant			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755	2515	2515		ADAM metallopeptidase domain containing	198	protein-coding gene	gene with protein product	cancer/testis antigen 15	601533	fertilin beta	FTNB	NA	8702389, 9070941	Standard	NM_001464	NM_001278113	NA	Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000379853.2:c.514-11552G>T	8.37:g.39646232C>A		NA	P78326|Q9UQQ8	37		.	.	.	.	.	.	.	.	.	.	C	11.49	1.653517	0.29425	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.64438	-0.1;-0.1;-0.1	4.7	-5.11	0.02901	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.72645	0.3486	M	0.71036	2.16	0.09310	N	1	P;P;P	0.41947	0.766;0.723;0.766	P;P;P	0.60609	0.877;0.73;0.824	T	0.70008	-0.4990	8	.	.	.	.	12.6789	0.56910	0.0:0.1977:0.0:0.8023	.	200;181;200	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	F	181;200;200	ENSP00000343854:V181F;ENSP00000265708:V200F;ENSP00000429352:V200F	.	V	-	1	0	ADAM2	39765389	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.932000	0.00688	-0.905000	0.03871	0.650000	0.86243	GTT	ADAM2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000376925.1		-	ENST00000379853.2	Intron	SNP	8 : 39646232 - 39646232 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	479	40
ADORA3	140	broad.mit.edu	37	1	112042946	112042946	+	Missense_Mutation	SNP	C	C	T	rs143962803	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:112042946C>T	ENST00000241356.4	-	2	988	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	195					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A195T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGATAGATGGCGCACATGACA	0.433		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)						C	THR/ALA,,	24,4382	32.6+/-62.9	0,24,2179	145	136	139		583,,	2.1	0.2	1	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron	ADORA3	NM_000677.3,NM_001081976.1,NM_020683.6	58,,	0,25,6478	TT,TC,CC	NA	0.0116,0.5447,0.1922	benign,,	195/319,,	112042946	25,12981	2203	4300	6503	SO:0001583	missense			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933	140	140		GPCR / Class A : Adenosine receptors, Immunoglobulin superfamily / V-set domain containing	268	protein-coding gene	gene with protein product		600445			NA	7607699	Standard	NM_000677, NM_020683	NM_020683	NA	Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.583G>A	1.37:g.112042946C>T	ENSP00000241356:p.Ala195Thr	NA	A2A3P4|Q6UWU0|Q9BYZ1	37	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124357	0.20959	0.005447	1.16E-4	ENSG00000121933	ENST00000241356	T	0.37058	1.22	5.01	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10852	0.0265	L	0.39467	1.215	0.23174	N	0.998173	P	0.41784	0.762	B	0.36534	0.227	T	0.11717	-1.0576	9	0.27785	T	0.31	.	8.8535	0.35214	0.0:0.6997:0.0:0.3003	.	195	P33765	AA3R_HUMAN	T	195	ENSP00000241356:A195T	ENSP00000241356:A195T	A	-	1	0	ADORA3	111844469	0.077000	0.21312	0.173000	0.22940	0.021000	0.10359	1.197000	0.32211	0.227000	0.20999	0.655000	0.94253	GCC	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033065.1		-	ENST00000241356.4	Missense_Mutation	SNP	1 : 112042946 - 112042946 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	531	153
BACH1	571	broad.mit.edu	37	21	30699086	30699086	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:30699086C>T	ENST00000399921.1	+	3	1184	c.941C>T	c.(940-942)tCc>tTc	p.S314F	BACH1_ENST00000286800.3_Missense_Mutation_p.S314F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	314			S -> P (in dbSNP:rs35474725).			nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CACAATTCTTCCATAGACCCT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	127	125			NA	NA	21		NA											NA				30699086		2203	4299	6502	SO:0001583	missense			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273	571	571		BTB/POZ domain containing, basic leucine zipper proteins	935	protein-coding gene	gene with protein product		602751			NA	9544839, 9479503	Standard	NM_206866	NR_027655	NA	Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.941C>T	21.37:g.30699086C>T	ENSP00000382805:p.Ser314Phe	NA	O43285	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077636	0.36662	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72167	-0.63;-0.63	5.38	5.38	0.77491	.	0.248068	0.36034	N	0.002837	T	0.54695	0.1874	N	0.14661	0.345	0.09310	N	1	B	0.34372	0.451	B	0.26517	0.07	T	0.58233	-0.7672	10	0.72032	D	0.01	-16.0467	18.0715	0.89408	0.0:1.0:0.0:0.0	.	314	O14867	BACH1_HUMAN	F	314	ENSP00000286800:S314F;ENSP00000382805:S314F	ENSP00000286800:S314F	S	+	2	0	BACH1	29620957	0.098000	0.21812	0.093000	0.20910	0.624000	0.37722	4.125000	0.57931	2.813000	0.96785	0.655000	0.94253	TCC	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000171974.1		+	ENST00000399921.1	Missense_Mutation	SNP	21 : 30699086 - 30699086 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	729	120
CACNA1A	773	broad.mit.edu	37	19	13414635	13414635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:13414635G>A	ENST00000360228.5	-	16	2049	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q685*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	685					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGCCGCCCTGCACGCCCCCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	178	176			NA	NA	19		NA											NA				13414635		2036	4180	6216	SO:0001587	stop_gained			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2050C>T	19.37:g.13414635G>A	ENSP00000353362:p.Gln684*	NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	42	9.180962	0.99092	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	4.58	3.49	0.39957	.	0.154656	0.41605	D	0.000849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7798	0.23640	0.0:0.1525:0.5412:0.3063	.	.	.	.	X	684;685;685;685	.	ENSP00000317661:Q685X	Q	-	1	0	CACNA1A	13275635	0.706000	0.27856	1.000000	0.80357	0.915000	0.54546	2.132000	0.42083	2.371000	0.80710	0.591000	0.81541	CAG	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Nonsense_Mutation	SNP	19 : 13414635 - 13414635 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	724	7
CD86	942	broad.mit.edu	37	3	121822466	121822466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:121822466C>T	ENST00000330540.2	+	3	288	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	CD86_ENST00000393627.2_Nonsense_Mutation_p.Q52*|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	58	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGTATTTTGGCAGGACCAGGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(67;1379 1389 36064 39806)							NA				0													114	114	114			NA	NA	3		NA											NA				121822466		2203	4300	6503	SO:0001587	stop_gained				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013	942	942		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	1705	protein-coding gene	gene with protein product	B-lymphocyte antigen B7-2	601020	CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	CD28LG2	NA	7513726	Standard	NM_006889	NM_006889	NA	Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.172C>T	3.37:g.121822466C>T	ENSP00000332049:p.Gln58*	NA	A0N0P0|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	37	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.0|20.0	3.930423|3.930423	0.73327|0.73327	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000478741|ENST00000330540;ENST00000482356;ENST00000393627	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.53938	.|D	.|0.000056	T|.	0.72835|.	0.3510|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72043|.	-0.4409|.	4|.	.|0.48119	.|T	.|0.1	-23.0192|-23.0192	14.8575|14.8575	0.70351|0.70351	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	53|58;52;52	.|.	.|ENSP00000332049:Q58X	A|Q	+|+	2|1	0|0	CD86|CD86	123305156|123305156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.774000|0.774000	0.43823|0.43823	3.859000|3.859000	0.55987|0.55987	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCA|CAG	CD86-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355671.1		+	ENST00000330540.2	Nonsense_Mutation	SNP	3 : 121822466 - 121822466 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	570	7
CDCA2	157313	broad.mit.edu	37	8	25317954	25317954	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:25317954C>T	ENST00000330560.3	+	3	593	c.116C>T	c.(115-117)gCc>gTc	p.A39V	CDCA2_ENST00000380665.3_Missense_Mutation_p.A24V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	39					cell division|mitosis	cytoplasm|nucleus		p.A39V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAGAAGCATGCCGAATTACCT	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)	kidney(1)											237	231	233			NA	NA	8		NA											NA				25317954		2203	4300	6503	SO:0001583	missense			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661	157313	157313			14623	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 81				NA	12188893, 16492807	Standard	NM_152562	NM_152562	NA	Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.116C>T	8.37:g.25317954C>T	ENSP00000328228:p.Ala39Val	NA	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221746	0.58560	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000435898	T;T	0.36340	1.26;1.26	5.19	4.32	0.51571	.	0.306968	0.23768	N	0.044756	T	0.44414	0.1292	L	0.53249	1.67	0.09310	N	1	P;P;P	0.50272	0.933;0.933;0.933	P;P;P	0.51324	0.461;0.666;0.666	T	0.35251	-0.9796	10	0.72032	D	0.01	-8.3448	11.8981	0.52667	0.0:0.8243:0.1756:0.0	.	39;24;39	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	V	39;24;39	ENSP00000328228:A39V;ENSP00000370040:A24V	ENSP00000328228:A39V	A	+	2	0	CDCA2	25373871	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.603000	0.24149	1.165000	0.42670	-0.273000	0.10243	GCC	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216891.3		+	ENST00000330560.3	Missense_Mutation	SNP	8 : 25317954 - 25317954 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	619	5
CHMP4C	92421	broad.mit.edu	37	8	82670525	82670525	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:82670525G>A	ENST00000297265.4	+	4	825	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	211	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CGTCGATCCCGAGCAGGTCTG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	82	85			NA	NA	8		NA											NA				82670525		2203	4300	6503	SO:0001583	missense			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695	92421	92421		Charged multivesicular body proteins	30599	protein-coding gene	gene with protein product	Snf7 homologue associated with Alix 3	610899	chromatin modifying protein 4C		NA	12860994 , 14678797	Standard	NM_152284	NM_152284	NA	Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.632G>A	8.37:g.82670525G>A	ENSP00000297265:p.Arg211Gln	NA	B2RBZ1	37	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727483	0.30593	.	.	ENSG00000164695	ENST00000297265	T	0.52526	0.66	6.17	5.3	0.74995	.	0.268617	0.28908	N	0.013750	T	0.25232	0.0613	N	0.08118	0	0.43334	D	0.995379	B	0.29037	0.231	B	0.17722	0.019	T	0.10497	-1.0627	10	0.15499	T	0.54	-2.4061	13.2245	0.59907	0.0759:0.0:0.9241:0.0	.	211	Q96CF2	CHM4C_HUMAN	Q	211	ENSP00000297265:R211Q	ENSP00000297265:R211Q	R	+	2	0	CHMP4C	82833080	0.991000	0.36638	0.925000	0.36789	0.351000	0.29236	1.321000	0.33678	1.633000	0.50488	0.655000	0.94253	CGA	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379927.1		+	ENST00000297265.4	Missense_Mutation	SNP	8 : 82670525 - 82670525 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	360	69
CHRNA7	1139	broad.mit.edu	37	15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(193;529 2900 40232 43193)							NA				0													16	24	21			NA	NA	15		NA											NA				32460285		2179	4281	6460	SO:0001583	missense			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344	1139	1139		Cholinergic receptors, Ligand-gated ion channels / Acetylcholine receptors, nicotinic	1960	protein-coding gene	gene with protein product	acetylcholine receptor, nicotinic, alpha 7 (neuronal)	118511	cholinergic receptor, nicotinic, alpha polypeptide 7		NA	8188270	Standard		NM_001190455	NA	Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1135G>A	15.37:g.32460285G>A	ENSP00000303727:p.Ala379Thr	NA	A8K7Q4|Q15826|Q96RH2|Q99555|Q9BXH0	37	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	3.425	-0.117298	0.06838	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19669	2.13;2.13;2.13	3.84	-0.555	0.11807	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.523290	0.01582	N	0.021155	T	0.08179	0.0204	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.12766	T	0.61	.	3.6481	0.08192	0.494:0.0:0.3237:0.1823	.	408;379	B4DFS0;P36544	.;ACHA7_HUMAN	T	289;408;379;198	ENSP00000407546:A408T;ENSP00000303727:A379T;ENSP00000405989:A198T	ENSP00000303727:A379T	A	+	1	0	CHRNA7	30247577	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.094000	0.11094	-0.091000	0.12440	0.650000	0.86243	GCC	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251410.2		+	ENST00000306901.3	Missense_Mutation	SNP	15 : 32460285 - 32460285 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	195	55
CLSTN2	64084	broad.mit.edu	37	3	140178467	140178467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:140178467G>A	ENST00000458420.3	+	7	1268	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	360					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAGTTTGACGGCAGGCAGGG	0.572		NA								HNSCC(16;0.037)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(45;858 913 3709 36904 37282)							NA				0													80	69	72			NA	NA	3		NA											NA				140178467		2203	4300	6503	SO:0001583	missense			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258	64084	64084		Cadherins / Cadherin-related	17448	protein-coding gene	gene with protein product	cadherin-related family member 13	611323			NA	12498782	Standard	NM_022131	NM_022131	NA	Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1078G>A	3.37:g.140178467G>A	ENSP00000402460:p.Gly360Ser	NA	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305899	0.95629	.	.	ENSG00000158258	ENST00000458420	T	0.02863	4.13	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00174	-1.1956	10	0.62326	D	0.03	-35.2726	16.6974	0.85339	0.0:0.0:1.0:0.0	.	360	Q9H4D0	CSTN2_HUMAN	S	360	ENSP00000402460:G360S	ENSP00000402460:G360S	G	+	1	0	CLSTN2	141661157	1.000000	0.71417	0.959000	0.39883	0.923000	0.55619	9.869000	0.99810	2.552000	0.86080	0.655000	0.94253	GGC	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359393.3		+	ENST00000458420.3	Missense_Mutation	SNP	3 : 140178467 - 140178467 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	211	40
COASY	80347	broad.mit.edu	37	17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,	2,4402		0,2,2200	37	47	44		131,131,218,131,	4.9	1	17		44	0,8592		0,0,4296	no	missense,missense,missense,missense,intron	COASY	NM_001042529.1,NM_001042530.1,NM_001042532.2,NM_025233.5,NM_001042531.1	94,94,94,94,	0,2,6496	AA,AG,GG	NA	0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	44/565,44/565,73/594,44/565,	40714771	2,12994	2202	4296	6498	SO:0001583	missense			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	80347	80347	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	Coenzyme A synthase		NA	11923312, 11980892	Standard	NM_025233	NM_025233	NA	Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.131G>A	17.37:g.40714771G>A	ENSP00000377406:p.Gly44Asp	NA	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783426	0.70222	4.54E-4	0.0	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.33438	1.41;1.41	5.84	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	P;B	0.41041	0.736;0.043	B;B	0.38500	0.275;0.024	T	0.03068	-1.1076	10	0.48119	T	0.1	-18.0729	12.532	0.56120	0.0803:0.0:0.9197:0.0	.	73;44	Q13057-2;Q13057	.;COASY_HUMAN	D	73;44;44;44	ENSP00000413338:G44D;ENSP00000377406:G44D	ENSP00000377406:G44D	G	+	2	0	COASY	37968297	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	6.902000	0.75699	1.483000	0.48342	0.561000	0.74099	GGC	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450409.1		+	ENST00000393818.2	Missense_Mutation	SNP	17 : 40714771 - 40714771 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	501	6
CPVL	54504	broad.mit.edu	37	7	29132283	29132283	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:29132283G>A	ENST00000409850.1	-	10	1144	c.498C>T	c.(496-498)caC>caT	p.H166H	CPVL_ENST00000265394.5_Silent_p.H166H|CPVL_ENST00000396276.3_Silent_p.H166H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	166					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTGCATATCCGTGGGTATCAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	76	81			NA	NA	7		NA											NA				29132283		2203	4300	6503	SO:0001819	synonymous_variant			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066	54504	54504			14399	protein-coding gene	gene with protein product	carboxypeptidase WUG, vitellogenic carboxypeptidase-like protein, CP-Mac carboxypeptidase	609780			NA	11401439	Standard	NM_019029	XM_005249786	NA	Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.498C>T	7.37:g.29132283G>A		NA	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	37	CCDS5419.1																																																																																			CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328305.1		-	ENST00000409850.1	Silent	SNP	7 : 29132283 - 29132283 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	305	43
CROCC	9696	broad.mit.edu	37	1	17266463	17266463	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:17266463C>T	ENST00000375541.5	+	13	1752	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	561					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCGAGAGCGAGCGGCGGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4399		0,1,2199	41	40	40		1683	-9.8	0.1	1		40	1,8583		0,1,4291	no	coding-synonymous	CROCC	NM_014675.3		0,2,6490	TT,TC,CC	NA	0.0116,0.0227,0.0154		561/2018	17266463	2,12982	2200	4292	6492	SO:0001819	synonymous_variant			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453	9696	9696			21299	protein-coding gene	gene with protein product	rootletin, ciliary rootlet protein	615776			NA	12427867, 17971504	Standard	NM_014675	XM_006711056	NA	Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1683C>T	1.37:g.17266463C>T		NA	Q2VHY3|Q66GT7|Q7Z2L4|Q7Z5D7	37	CCDS30616.1																																																																																			CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006249.2		+	ENST00000375541.5	Silent	SNP	1 : 17266463 - 17266463 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	449	7
CSMD2	114784	broad.mit.edu	37	1	34276462	34276462	+	Missense_Mutation	SNP	C	C	T	rs61771030		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:34276462C>T	ENST00000338325.1	-	0	411				CSMD2_ENST00000373381.4_Missense_Mutation_p.R443H			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	NA						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCACACATGCGGGCTGCAGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	1		NA											NA				34276462		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904	114784	114784			19290	protein-coding gene	gene with protein product		608398			NA	11472063, 11572484	Standard	NM_052896	NM_001281956	NA	Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.-2G>A	1.37:g.34276462C>T		NA	B1AM50|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.088319	0.76756	.	.	ENSG00000121904	ENST00000373381	T	0.24538	1.85	5.81	5.81	0.92471	Complement control module (1);	0.063724	0.64402	D	0.000005	T	0.48259	0.1490	L	0.58101	1.795	0.80722	D	1	D;D	0.69078	0.978;0.997	P;D	0.67725	0.816;0.953	T	0.20706	-1.0267	10	0.42905	T	0.14	.	19.0741	0.93151	0.0:1.0:0.0:0.0	rs61771030	403;443	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	443	ENSP00000362479:R443H	ENSP00000241312:R403H	R	-	2	0	CSMD2	34049049	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.198000	0.65147	2.751000	0.94390	0.591000	0.81541	CGC	CSMD2-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000036404.2		-	ENST00000338325.1	5'UTR	SNP	1 : 34276462 - 34276462 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	453	5
CTNNA3	29119	broad.mit.edu	37	10	68940134	68940134	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:68940134C>T	ENST00000433211.2	-	7	1162	c.988G>A	c.(988-990)Gca>Aca	p.A330T	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A330T|CTNNA3_ENST00000545309.1_Missense_Mutation_p.A330T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	NA					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTGCATTCTGCGATAATCCGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	120	127			NA	NA	10		NA											NA				68940134		2203	4300	6503	SO:0001583	missense			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230	29119	29119			2511	protein-coding gene	gene with protein product		607667			NA	12596047, 11590244	Standard	NM_013266	XM_005269717	NA	Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.988G>A	10.37:g.68940134C>T	ENSP00000389714:p.Ala330Thr	NA	Q5VSR2|Q6P056	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441070	0.63067	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.44083	1.38;1.38;0.93	5.83	3.75	0.43078	.	0.123947	0.35349	N	0.003278	T	0.45558	0.1348	M	0.86178	2.8	0.44234	D	0.997079	B;B;B;B	0.21821	0.013;0.033;0.061;0.031	B;B;B;B	0.25759	0.018;0.03;0.063;0.012	T	0.50541	-0.8816	10	0.54805	T	0.06	-7.2666	7.2252	0.26012	0.0:0.7176:0.0:0.2824	.	330;330;330;330	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	T	330	ENSP00000389714:A330T;ENSP00000362849:A330T;ENSP00000441444:A330T	ENSP00000362849:A330T	A	-	1	0	CTNNA3	68610140	0.971000	0.33674	0.957000	0.39632	0.910000	0.53928	2.199000	0.42715	1.458000	0.47871	0.585000	0.79938	GCA	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048282.2		-	ENST00000433211.2	Missense_Mutation	SNP	10 : 68940134 - 68940134 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	328	11
CX3CR1	1524	broad.mit.edu	37	3	39307048	39307048	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:39307048C>T	ENST00000541347.1	-	2	1192	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CX3CR1_ENST00000542107.1_Missense_Mutation_p.R318H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R318H|CX3CR1_ENST00000358309.3_Missense_Mutation_p.R350H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	318					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GTGGACTGAGCGCCCACACAG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	118	118			NA	NA	3		NA											NA				39307048		1976	4166	6142	SO:0001583	missense			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329	1524	1524		GPCR / Class A : Chemokine receptors : C-X-3-C motif	2558	protein-coding gene	gene with protein product		601470	chemokine (C-X3-C) receptor 1	GPR13, CMKBRL1	NA	9726990, 7646814	Standard	NM_001337	NM_001171171	NA	Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.953G>A	3.37:g.39307048C>T	ENSP00000439140:p.Arg318His	NA	A0N0N6|B2R5Z4	37	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763877	0.49574	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.7	-8.52	0.00920	.	1.700860	0.02376	N	0.078318	T	0.30230	0.0758	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20840	-1.0263	10	0.42905	T	0.14	.	7.9385	0.29944	0.0938:0.5777:0.0943:0.2342	.	318	P49238	CX3C1_HUMAN	H	318;326;350;318;318	ENSP00000382166:R318H;ENSP00000351059:R350H;ENSP00000439140:R318H;ENSP00000444928:R318H	ENSP00000351059:R350H	R	-	2	0	CX3CR1	39282052	0.000000	0.05858	0.000000	0.03702	0.660000	0.38997	-2.416000	0.01035	-1.421000	0.02007	0.655000	0.94253	CGC	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343613.1		-	ENST00000541347.1	Missense_Mutation	SNP	3 : 39307048 - 39307048 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	796	6
DCAF6	55827	broad.mit.edu	37	1	167960489	167960489	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:167960489C>T	ENST00000367840.3	+	6	694	c.600C>T	c.(598-600)tgC>tgT	p.C200C	DCAF6_ENST00000432587.2_Silent_p.C169C|DCAF6_ENST00000312263.6_Silent_p.C200C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.C200C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	200					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTGCTATTTGCCCACCAATAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	132	137			NA	NA	1		NA											NA				167960489		2203	4300	6503	SO:0001819	synonymous_variant			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164	55827	55827		WD repeat domain containing, DDB1 and CUL4 associated factors	30002	protein-coding gene	gene with protein product		610494	IQ motif and WD repeats 1	IQWD1	NA	12032826	Standard	NM_018442	NM_018442	NA	Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000367840.3:c.600C>T	1.37:g.167960489C>T		NA	A2A295|Q7L8I0|Q8IXH3|Q8TB19	37	CCDS55657.1																																																																																			DCAF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083659.3		+	ENST00000367840.3	Silent	SNP	1 : 167960489 - 167960489 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	521	5
DDX55	57696	broad.mit.edu	37	12	124090516	124090516	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:124090516C>T	ENST00000238146.4	+	2	197	c.147C>T	c.(145-147)gtC>gtT	p.V49V	DDX55_ENST00000538744.1_Silent_p.V49V	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	49	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ACAAAGATGTCGCTGCAGAAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	147	158			NA	NA	12		NA											NA				124090516		2203	4300	6503	SO:0001819	synonymous_variant			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364	57696	57696		DEAD-boxes	20085	protein-coding gene	gene with protein product					NA	10997877	Standard		NM_020936	NA	Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.147C>T	12.37:g.124090516C>T		NA	Q658L6|Q9HCH7	37	CCDS9251.1																																																																																			DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400616.2		+	ENST00000238146.4	Silent	SNP	12 : 124090516 - 124090516 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	485	5
DGKI	9162	broad.mit.edu	37	7	137263014	137263014	+	Splice_Site	SNP	A	A	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:137263014A>C	ENST00000453654.2	-	16	1338		c.e16+1		DGKI_ENST00000288490.5_Splice_Site|DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000424189.2_Splice_Site			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATGTATACCTACCCCTGCATA	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	59	59			NA	NA	7		NA											NA				137263014		2202	4298	6500	SO:0001630	splice_region_variant			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680	9162	9162		Ankyrin repeat domain containing	2855	protein-coding gene	gene with protein product		604072			NA	9830018	Standard	NM_004717	NM_004717	NA	Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000453654.2:c.798+1T>G	7.37:g.137263014A>C		NA	A4D1Q9|Q9NZ49	37		.	.	.	.	.	.	.	.	.	.	A	22.2	4.262490	0.80358	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9475	0.71044	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKI	136913554	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.096000	0.94182	2.080000	0.62538	0.379000	0.24179	.	DGKI-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000341287.2	Intron	-	ENST00000453654.2	Splice_Site	SNP	7 : 137263014 - 137263014 C PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	273	24
DHX8	1659	broad.mit.edu	37	17	41570293	41570293	+	Missense_Mutation	SNP	C	C	T	rs146727331		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:41570293C>T	ENST00000262415.3	+	6	820	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	DHX8_ENST00000540306.1_Missense_Mutation_p.R250W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	250						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGATAGATGGCGGGATAAGCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(56;1548 1661 49258 49987)							NA				0								C	TRP/ARG	0,4406		0,0,2203	106	107	107		748	0.8	1	17	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DHX8	NM_004941.1	101	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	250/1221	41570293	1,13005	2203	4300	6503	SO:0001583	missense			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596	1659	1659		DEAH-boxes	2749	protein-coding gene	gene with protein product		600396	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)	DDX8	NA	7935475	Standard		NM_004941	NA	Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.748C>T	17.37:g.41570293C>T	ENSP00000262415:p.Arg250Trp	NA		37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901639	0.52227	0.0	1.16E-4	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.56611	0.45;0.45	5.33	0.831	0.18860	.	0.131203	0.50627	D	0.000103	T	0.35128	0.0921	N	0.08118	0	0.47183	D	0.999343	D;D	0.69078	0.997;0.995	P;P	0.51657	0.627;0.676	T	0.20672	-1.0268	10	0.59425	D	0.04	.	4.9162	0.13847	0.4807:0.3354:0.1111:0.0729	.	250;250	F5H658;Q14562	.;DHX8_HUMAN	W	250	ENSP00000437886:R250W;ENSP00000262415:R250W	ENSP00000262415:R250W	R	+	1	2	DHX8	38925819	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.269000	0.51592	0.205000	0.20568	-0.293000	0.09583	CGG	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453485.1		+	ENST00000262415.3	Missense_Mutation	SNP	17 : 41570293 - 41570293 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	478	121
DIP2A	23181	broad.mit.edu	37	21	47976980	47976980	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:47976980C>T	ENST00000400274.1	+	30	3848	c.3615C>T	c.(3613-3615)tgC>tgT	p.C1205C	DIP2A_ENST00000318711.7_Silent_p.C1210C|DIP2A_ENST00000417564.2_Silent_p.C1209C			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1209					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGTGTCTGTGCAGGTGAGTGC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	30	29			NA	NA	21		NA											NA				47976980		2125	4257	6382	SO:0001819	synonymous_variant			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305	23181	23181			17217	protein-coding gene	gene with protein product		607711	chromosome 21 open reading frame 106	C21orf106	NA		Standard	NM_015151	NM_015151	NA	Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000400274.1:c.3615C>T	21.37:g.47976980C>T		NA	A6P4T3|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	37	CCDS54490.1																																																																																			DIP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207431.1		+	ENST00000400274.1	Silent	SNP	21 : 47976980 - 47976980 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	100	11
DNAH2	146754	broad.mit.edu	37	17	7727588	7727588	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7727588C>T	ENST00000572933.1	+	76	13088	c.11628C>T	c.(11626-11628)atC>atT	p.I3876I	DNAH2_ENST00000389173.2_Silent_p.I3876I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3876	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCCCCATCGCTGCTCGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	35	35			NA	NA	17		NA											NA				7727588		2203	4299	6502	SO:0001819	synonymous_variant			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914	146754	146754		Axonemal dyneins	2948	protein-coding gene	gene with protein product		603333	dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3	DNHD3	NA	9256245	Standard	NM_020877	XM_005256470	NA	Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11628C>T	17.37:g.7727588C>T		NA	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	37	CCDS32551.1																																																																																			DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440241.1		+	ENST00000572933.1	Silent	SNP	17 : 7727588 - 7727588 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	146	26
EPHB1	2047	broad.mit.edu	37	3	134884864	134884864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:134884864C>T	ENST00000398015.3	+	8	2010	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V	EPHB1_ENST00000493838.1_Missense_Mutation_p.A108V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	547						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCTCGGCAGCGGCCGGGGTC	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	135	128			NA	NA	3		NA											NA				134884864		2116	4243	6359	SO:0001583	missense			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928	2047	2047		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3392	protein-coding gene	gene with protein product		600600	EphB1	EPHT2	NA	8666391	Standard	NM_004441	NM_004441	NA	Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1640C>T	3.37:g.134884864C>T	ENSP00000381097:p.Ala547Val	NA	A8K593|O43569|O95142|O95143|Q0VG87	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129979	0.56721	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.10477	2.87;2.87	6.07	6.07	0.98685	.	0.056918	0.64402	D	0.000002	T	0.09598	0.0236	L	0.31065	0.9	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.14117	-1.0484	10	0.02654	T	1	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	547	P54762	EPHB1_HUMAN	V	547;108	ENSP00000381097:A547V;ENSP00000419574:A108V	ENSP00000381097:A547V	A	+	2	0	EPHB1	136367554	1.000000	0.71417	0.879000	0.34478	0.743000	0.42351	7.794000	0.85869	2.884000	0.98904	0.655000	0.94253	GCG	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357671.1		+	ENST00000398015.3	Missense_Mutation	SNP	3 : 134884864 - 134884864 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	427	10
ERCC2	2068	broad.mit.edu	37	19	45867502	45867502	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:45867502G>A	ENST00000391945.4	-	9	883	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ERCC2_ENST00000485403.2_Missense_Mutation_p.T245M|ERCC2_ENST00000391944.3_Missense_Mutation_p.T191M|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391940.4_Missense_Mutation_p.T245M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	269	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTGAGCACCGTCTTCTGCAG	0.692		NA	Mis, N, F, S			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)		E	0													34	36	36			NA	NA	19		NA											NA				45867502		2202	4298	6500	SO:0001583	missense	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	2068	2068	3.6.4.12	General transcription factor IIH complex subunits	3434	protein-coding gene	gene with protein product	excision repair cross-complementing rodent repair deficiency, complementation group 2 protein, TFIIH basal transcription factor complex helicase XPB subunit	126340	xeroderma pigmentosum complementary group D, excision repair cross-complementing rodent repair deficiency, complementation group 2	XPD	NA	8413672, 2184031	Standard	NM_000400	NM_000400	NA	Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.806C>T	19.37:g.45867502G>A	ENSP00000375809:p.Thr269Met	NA	Q2TB78|Q2YDY2|Q8N721	37	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485655	0.63962	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.63913	-0.07;-0.07;-0.07	4.72	4.72	0.59763	Helicase-like, DEXD box c2 type (1);Domain of unknown function DUF1227 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.359147	0.31071	N	0.008304	T	0.71091	0.3299	M	0.72118	2.19	0.80722	D	1	P;P;B	0.47841	0.468;0.901;0.04	B;P;B	0.51487	0.376;0.671;0.264	T	0.74748	-0.3560	10	0.59425	D	0.04	-24.3907	15.5543	0.76180	0.0:0.0:1.0:0.0	.	191;245;269	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	M	219;245;269;191;245	ENSP00000375809:T269M;ENSP00000375808:T191M;ENSP00000375804:T245M	ENSP00000375804:T245M	T	-	2	0	ERCC2	50559342	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	4.390000	0.59646	2.601000	0.87937	0.561000	0.74099	ACG	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109626.2		-	ENST00000391945.4	Missense_Mutation	SNP	19 : 45867502 - 45867502 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	360	48
FAM160B1	57700	broad.mit.edu	37	10	116608431	116608431	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:116608431G>A	ENST00000369248.4	+	13	2073	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A580T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	580										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACCGGATGACGCAAAATCCTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	90	98			NA	NA	10		NA											NA				116608431		2203	4300	6503	SO:0001583	missense			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553	57700	57700			29320	protein-coding gene	gene with protein product			KIAA1600	KIAA1600	NA	10997877	Standard	XM_049351	NM_020940	NA	Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1738G>A	10.37:g.116608431G>A	ENSP00000358251:p.Ala580Thr	NA	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	37	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609124	0.87258	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.16457	2.36;2.34	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	L	0.49126	1.545	0.80722	D	1	D;P	0.56287	0.975;0.598	P;B	0.54100	0.742;0.06	T	0.00849	-1.1541	10	0.15952	T	0.53	-23.8406	19.9439	0.97175	0.0:0.0:1.0:0.0	.	580;580	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	T	580	ENSP00000358251:A580T;ENSP00000358253:A580T	ENSP00000358251:A580T	A	+	1	0	FAM160B1	116598421	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.477000	0.97925	2.797000	0.96272	0.561000	0.74099	GCA	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050499.1		+	ENST00000369248.4	Missense_Mutation	SNP	10 : 116608431 - 116608431 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	259	4
FAM47C	442444	broad.mit.edu	37	X	37026745	37026745	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:37026745G>A	ENST00000358047.3	+	1	314	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	88										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGGTCCCCAAGCTGACCCCAA	0.532		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	X		NA											NA				37026745		2202	4300	6502	SO:0001583	missense			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173	442444	442444			25301	protein-coding gene	gene with protein product					NA		Standard	NM_001013736	NM_001013736	NA	Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.262G>A	X.37:g.37026745G>A	ENSP00000367913:p.Ala88Thr	NA	Q6ZU46	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900661	0.17686	.	.	ENSG00000198173	ENST00000358047	T	0.20069	2.1	0.502	-0.96	0.10340	.	.	.	.	.	T	0.18383	0.0441	L	0.43701	1.375	0.09310	N	1	B	0.28584	0.216	B	0.36959	0.237	T	0.38243	-0.9670	9	0.33940	T	0.23	.	5.7074	0.17915	0.0:0.3376:0.6624:0.0	.	88	Q5HY64	FA47C_HUMAN	T	88	ENSP00000367913:A88T	ENSP00000367913:A88T	A	+	1	0	FAM47C	36936666	0.001000	0.12720	0.002000	0.10522	0.010000	0.07245	0.310000	0.19356	-0.497000	0.06641	0.292000	0.19580	GCT	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060508.1		+	ENST00000358047.3	Missense_Mutation	SNP	X : 37026745 - 37026745 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	144	146
FAM86A	196483	broad.mit.edu	37	16	5135684	5135684	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:5135684C>T	ENST00000427587.4	-	8	1010	c.942G>A	c.(940-942)ctG>ctA	p.L314L	FAM86A_ENST00000458008.4_Silent_p.L280L|FAM86A_ENST00000587133.1_Silent_p.L253L|ALG1_ENST00000592661.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	314										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	141	146			NA	NA	16		NA											NA				5135684		2197	4300	6497	SO:0001819	synonymous_variant			BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894	196483	196483			32221	protein-coding gene	gene with protein product		615263			NA		Standard	NM_201400	NM_201400	NA	Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.942G>A	16.37:g.5135684C>T		NA	Q96S85	37	CCDS10529.1																																																																																			FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251713.1		-	ENST00000427587.4	Silent	SNP	16 : 5135684 - 5135684 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	657	6
GLMN	11146	broad.mit.edu	37	1	92755861	92755861	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:92755861T>A	ENST00000370360.3	-	5	369	c.288A>T	c.(286-288)ttA>ttT	p.L96F	GLMN_ENST00000534881.1_Missense_Mutation_p.L96F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	96					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTGGATTGCATAACTATAAAA	0.308		NA							Multiple Glomus Tumors (of the Skin), Familial					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	1		NA											NA				92755861		2202	4299	6501	SO:0001583	missense	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842	11146	11146			14373	protein-coding gene	gene with protein product		601749	venous malformation with glomus cells	VMGLOM	NA	8955134	Standard	NM_007070	XM_005270400	NA	Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.288A>T	1.37:g.92755861T>A	ENSP00000359385:p.Leu96Phe	NA	Q5VVC3|Q9BVE8	37	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543108	0.65198	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.50548	0.74;0.74	5.65	1.87	0.25490	.	0.418315	0.26231	N	0.025566	T	0.40067	0.1102	L	0.56769	1.78	0.47737	D	0.9995	D;D	0.59767	0.986;0.982	P;P	0.62813	0.907;0.875	T	0.50338	-0.8840	10	0.66056	D	0.02	-2.3571	0.2648	0.00223	0.2109:0.2274:0.2068:0.3549	.	96;96	B4DJ85;Q92990	.;GLMN_HUMAN	F	96	ENSP00000359385:L96F;ENSP00000440156:L96F	ENSP00000359385:L96F	L	-	3	2	GLMN	92528449	0.519000	0.26242	1.000000	0.80357	0.995000	0.86356	-0.704000	0.05058	1.033000	0.39918	0.533000	0.62120	TTA	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000028358.1		-	ENST00000370360.3	Missense_Mutation	SNP	1 : 92755861 - 92755861 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	279	50
GPR149	344758	broad.mit.edu	37	3	154055947	154055947	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:154055947C>T	ENST00000389740.2	-	4	1836	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	579						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATTTTTTGCCCTTCTGCGC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	143	143			NA	NA	3		NA											NA				154055947		1848	4091	5939	SO:0001819	synonymous_variant			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948	344758	344758		GPCR / Class A : Orphans	23627	protein-coding gene	gene with protein product					NA	12679517	Standard	XM_293580	NM_001038705	NA	Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1737G>A	3.37:g.154055947C>T		NA		37	CCDS43162.1																																																																																			GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353430.1		-	ENST00000389740.2	Silent	SNP	3 : 154055947 - 154055947 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	797	6
GRK7	131890	broad.mit.edu	37	3	141535562	141535562	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:141535562G>T	ENST00000264952.2	+	4	1469	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	444	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACAGAGAAAAGTCTGATGATC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	67	66			NA	NA	3		NA											NA				141535562		2203	4300	6503	SO:0001583	missense				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124	131890	131890			17031	protein-coding gene	gene with protein product		606987		GPRK7	NA	11717351, 11754336	Standard	NM_139209	NM_139209	NA	Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1332G>T	3.37:g.141535562G>T	ENSP00000264952:p.Lys444Asn	NA		37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281990	0.23392	.	.	ENSG00000114124	ENST00000264952	T	0.24350	1.86	5.4	-0.397	0.12423	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.206992	0.43260	D	0.000593	T	0.07458	0.0188	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17745	-1.0359	10	0.51188	T	0.08	-3.3201	0.3395	0.00331	0.2689:0.2271:0.2739:0.2301	.	444	Q8WTQ7	GRK7_HUMAN	N	444	ENSP00000264952:K444N	ENSP00000264952:K444N	K	+	3	2	GRK7	143018252	0.000000	0.05858	0.992000	0.48379	0.976000	0.68499	-0.314000	0.08092	-0.010000	0.14271	0.467000	0.42956	AAG	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353168.1		+	ENST00000264952.2	Missense_Mutation	SNP	3 : 141535562 - 141535562 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	358	44
GRM6	2916	broad.mit.edu	37	5	178413350	178413350	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:178413350G>A	ENST00000517717.1	-	9	1943	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.Y635Y			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	635					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGGTGATGGCGTAGATGAGGA	0.672		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.0069	SNP								NA				0								G		0,4406		0,0,2203	52	47	49		1905	-0.2	1	5		49	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GRM6	NM_000843.3		0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231		635/878	178413350	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			U82083	CCDS4442.1	5q35	2014-01-28					2916	2916		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4598	protein-coding gene	gene with protein product		604096			NA	9215706	Standard		NM_000843	NA	Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1905C>T	5.37:g.178413350G>A		NA		37	CCDS4442.1																																																																																			GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253474.2		-	ENST00000517717.1	Silent	SNP	5 : 178413350 - 178413350 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	195	60
HEATR1	55127	broad.mit.edu	37	1	236762848	236762848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:236762848G>A	ENST00000366582.3	-	4	550	c.436C>T	c.(436-438)Cga>Tga	p.R146*	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R146*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	146					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTATGACTCGCACAAATATT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	130	129			NA	NA	1		NA											NA				236762848		2203	4300	6503	SO:0001587	stop_gained			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285	55127	55127			25517	protein-coding gene	gene with protein product	UTP10, small subunit (SSU) processome component, homolog (yeast)				NA	17699751	Standard	XM_375853	NM_018072	NA	Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.436C>T	1.37:g.236762848G>A	ENSP00000355541:p.Arg146*	NA	Q5T3Q8|Q6P197|Q9NW23	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	38	7.045839	0.98025	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6914	0.77457	0.0:0.0:0.855:0.145	.	.	.	.	X	146	.	ENSP00000355540:R146X	R	-	1	2	HEATR1	234829471	1.000000	0.71417	0.945000	0.38365	0.991000	0.79684	1.649000	0.37281	2.812000	0.96745	0.561000	0.74099	CGA	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096635.1		-	ENST00000366582.3	Nonsense_Mutation	SNP	1 : 236762848 - 236762848 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	463	6
HECW2	57520	broad.mit.edu	37	2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:197187274C>T	ENST00000409111.1	-	0	859				HECW2_ENST00000260983.3_Missense_Mutation_p.R271H			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	NA					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GATGATGGGACGGCTCTTGGC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	137	135			NA	NA	2		NA											NA				197187274		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411	57520	57520			29853	protein-coding gene	gene with protein product					NA	10718198, 12890487	Standard	NM_020760	NM_020760	NA	Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000409111.1:c.-156G>A	2.37:g.197187274C>T		NA	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	37		.	.	.	.	.	.	.	.	.	.	C	32	5.137069	0.94517	.	.	ENSG00000138411	ENST00000260983	T	0.46451	0.87	5.49	4.6	0.57074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.191653	0.47455	D	0.000223	T	0.44973	0.1319	M	0.75447	2.3	0.58432	D	0.999998	B	0.29627	0.252	B	0.26614	0.071	T	0.51741	-0.8667	10	0.87932	D	0	.	14.9482	0.71050	0.0:0.9304:0.0:0.0696	.	271	Q9P2P5	HECW2_HUMAN	H	271	ENSP00000260983:R271H	ENSP00000260983:R271H	R	-	2	0	HECW2	196895519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.912000	0.69948	2.878000	0.98634	0.650000	0.86243	CGT	HECW2-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000335314.2		-	ENST00000409111.1	5'UTR	SNP	2 : 197187274 - 197187274 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	812	106
HERC2	8924	broad.mit.edu	37	15	28517442	28517442	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28517442G>A	ENST00000261609.7	-	9	1110	c.1002C>T	c.(1000-1002)agC>agT	p.S334S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	334					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAGTGGGGCGCTGGTGCCCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	57	62			NA	NA	15		NA											NA				28517442		2203	4300	6503	SO:0001819	synonymous_variant			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1002C>T	15.37:g.28517442G>A		NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1																																																																																			HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Silent	SNP	15 : 28517442 - 28517442 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	356	10
HIST1H1B	3009	broad.mit.edu	37	6	27834834	27834845	+	In_Frame_Del	DEL	CTTCTTCGGAGT	CTTCTTCGGAGT	-	rs143393068	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	CTTCTTCGGAGT	CTTCTTCGGAGT	-	-	CTTCTTCGGAGT	CTTCTTCGGAGT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:27834834_27834845delCTTCTTCGGAGT	ENST00000331442.3	-	1	514_525	c.463_474delACTCCGAAGAAG	c.(463-474)actccgaagaagdel	p.TPKK155del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	155					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTTCTTCGCCTTCTTCGGAGTCTTCTTCACT	0.599		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:0001651	inframe_deletion			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357	3009	3009		Histones / Replication-dependent	4719	protein-coding gene	gene with protein product		142711	H1 histone family, member 5, histone 1, H1b	H1F5	NA	9031620, 9119399, 12408966	Standard	NM_005322	NM_005322	NA	Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.463_474delACTCCGAAGAAG	6.37:g.27834834_27834845delCTTCTTCGGAGT	ENSP00000330074:p.Thr155_Lys158del	NA	Q14529|Q3MJ42	37	CCDS4635.1																																																																																			HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043371.1		-	ENST00000331442.3	In_Frame_Del	DEL	6 : 27834834 - 27834845 - PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	919	76
HK2	3099	broad.mit.edu	37	2	75118049	75118049	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:75118049G>A	ENST00000409174.1	+	18	2841	c.2651G>A	c.(2650-2652)cGt>cAt	p.R884H	HK2_ENST00000290573.2_Missense_Mutation_p.R912H			P52789	HXK2_HUMAN	hexokinase 2	912	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R912L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGCCGCATCCGTGAGGCTGGA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											51	53	53			NA	NA	2		NA											NA				75118049		2203	4300	6503	SO:0001583	missense				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	3099	3099	2.7.1.1		4923	protein-coding gene	gene with protein product		601125			NA		Standard	NM_000189	NM_000189	NA	Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000409174.1:c.2651G>A	2.37:g.75118049G>A	ENSP00000387140:p.Arg884His	NA	D6W5J2|Q8WU87|Q9UN82	37		.	.	.	.	.	.	.	.	.	.	G	19.73	3.882526	0.72294	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97553	-4.43;-4.43	4.99	4.99	0.66335	.	0.056749	0.64402	D	0.000001	D	0.93926	0.8056	L	0.41079	1.255	0.80722	D	1	D	0.61080	0.989	B	0.39027	0.288	D	0.93726	0.7037	10	0.40728	T	0.16	-11.9165	15.8192	0.78626	0.0:0.0:1.0:0.0	.	912	P52789	HXK2_HUMAN	H	912;912;884	ENSP00000290573:R912H;ENSP00000387140:R884H	ENSP00000290573:R912H	R	+	2	0	HK2	74971557	1.000000	0.71417	0.961000	0.40146	0.996000	0.88848	4.459000	0.60102	2.609000	0.88269	0.561000	0.74099	CGT	HK2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328629.4		+	ENST00000409174.1	Missense_Mutation	SNP	2 : 75118049 - 75118049 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	441	5
HMG20B	10362	broad.mit.edu	37	19	3574395	3574395	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:3574395C>T	ENST00000333651.6	+	4	237	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	54					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGAAACGCGGCTGGCCCA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	12	12			NA	NA	19		NA											NA				3574395		1887	4075	5962	SO:0001819	synonymous_variant			BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961	10362	10362		High mobility group / Non-canonical	5002	protein-coding gene	gene with protein product	HMG box domain containing 2	605535	high-mobility group 20B		NA	10773667	Standard	NM_006339	NM_006339	NA	Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.162C>T	19.37:g.3574395C>T		NA	A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	37	CCDS45919.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159407	0.38119	.	.	ENSG00000064961	ENST00000262949	.	.	.	4.03	-8.05	0.01106	.	0.000000	0.64402	U	0.000001	T	0.49745	0.1575	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.62067	-0.6932	6	0.72032	D	0.01	-7.5678	2.2814	0.04115	0.4628:0.0954:0.2597:0.182	.	.	.	.	W	59	.	ENSP00000262949:R59W	R	+	1	2	HMG20B	3525395	0.000000	0.05858	0.325000	0.25375	0.925000	0.55904	-2.871000	0.00720	-3.088000	0.00248	0.491000	0.48974	CGG	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318088.1		+	ENST00000333651.6	Silent	SNP	19 : 3574395 - 3574395 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	48	12
HYDIN	54768	broad.mit.edu	37	16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:70908762C>T	ENST00000393567.2	-	63	10768	c.10618G>A	c.(10618-10620)Gcg>Acg	p.A3540T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3540										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAGATATACGCGGTGGTGGGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	56	57			NA	NA	16		NA											NA				70908762		1869	4102	5971	SO:0001583	missense			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423	54768	54768		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	19368	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 31	610812	hydrocephalus inducing, hydrocephalus inducing homolog (mouse)		NA	12719380, 23022101	Standard		NM_001198542	NA	Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10618G>A	16.37:g.70908762C>T	ENSP00000377197:p.Ala3540Thr	NA	A6NC70|A6NLZ0|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	2.768	-0.256259	0.05829	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	4.66	0.836	0.18891	.	0.563128	0.13263	U	0.401146	T	0.00440	0.0014	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.51028	-0.8757	10	0.17832	T	0.49	.	0.1104	0.00055	0.365:0.2089:0.1834:0.2427	.	3539	F8WD23	.	T	3540;3539	ENSP00000377197:A3540T	ENSP00000313052:A3539T	A	-	1	0	HYDIN	69466263	0.999000	0.42202	0.992000	0.48379	0.039000	0.13416	0.722000	0.25925	0.614000	0.30107	-0.463000	0.05309	GCG	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398624.3		-	ENST00000393567.2	Missense_Mutation	SNP	16 : 70908762 - 70908762 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	188	36
IRF8	3394	broad.mit.edu	37	16	85946826	85946826	+	Silent	SNP	G	G	A	rs146360039	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	179					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACTGGTGGGCGCAGCAGCCCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		8,4388	14.3+/-33.2	0,8,2190	65	69	68		537	-3.1	0.1	16	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IRF8	NM_002163.2		0,9,6489	AA,AG,GG	NA	0.0116,0.182,0.0693		179/427	85946826	9,12987	2198	4300	6498	SO:0001819	synonymous_variant			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968	3394	3394			5358	protein-coding gene	gene with protein product		601565	interferon consensus sequence binding protein 1	ICSBP1	NA	1460054, 11997525	Standard	NM_002163	NM_002163	NA	Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.537G>A	16.37:g.85946826G>A		NA	A0AV82	37	CCDS10956.1																																																																																			IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269100.2		+	ENST00000268638.5	Silent	SNP	16 : 85946826 - 85946826 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	399	6
KLK4	9622	broad.mit.edu	37	19	51411880	51411880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:51411880C>T	ENST00000324041.1	-	3	429	c.430G>A	c.(430-432)Gcg>Acg	p.A144T	KLK4_ENST00000431178.2_Missense_Mutation_p.A95T	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	144	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GAGTTCCCCGCGGTAGGGCAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	79	87			NA	NA	19		NA											NA				51411880		2203	4300	6503	SO:0001583	missense			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749	9622	9622		Kallikreins, Serine peptidases / Serine peptidases	6365	protein-coding gene	gene with protein product		603767	kallikrein 4 (prostase, enamel matrix, prostate)	PRSS17	NA	10077646, 10438493, 16800724, 10863090, 9465170	Standard	NM_004917	XM_005259441	NA	Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.430G>A	19.37:g.51411880C>T	ENSP00000326159:p.Ala144Thr	NA	Q4VB16|Q9GZL6|Q9UBJ6	37	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	6.881	0.532035	0.13127	.	.	ENSG00000167749	ENST00000324041;ENST00000431178	D;D	0.89415	-2.51;-2.51	3.99	-7.97	0.01139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.234540	0.06113	N	0.667494	T	0.76307	0.3969	N	0.25201	0.72	0.09310	N	1	B;B	0.33964	0.434;0.248	B;B	0.27076	0.076;0.012	T	0.68296	-0.5446	10	0.41790	T	0.15	.	8.5105	0.33215	0.171:0.1988:0.5598:0.0703	.	95;144	Q96JD7;Q9Y5K2	.;KLK4_HUMAN	T	144;95	ENSP00000326159:A144T;ENSP00000399448:A95T	ENSP00000326159:A144T	A	-	1	0	KLK4	56103692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.743000	0.00797	-2.474000	0.00527	-1.157000	0.01802	GCG	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464449.1		-	ENST00000324041.1	Missense_Mutation	SNP	19 : 51411880 - 51411880 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	220	5
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	371	89
L2HGDH	79944	broad.mit.edu	37	14	50704423	50704423	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:50704423G>A	ENST00000261699.4	-	10	1234	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L				Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	401					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TAGCCAGCTCGGTCCTCTCAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	31	32			NA	NA	14		NA											NA				50704423		876	1991	2867	SO:0001583	missense				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	79944	79944	1.1.99.2		20499	protein-coding gene	gene with protein product	2-hydroxyglutarate dehydrogenase	609584	chromosome 14 open reading frame 160	C14orf160	NA	16005139	Standard	NM_024884	NM_024884	NA	Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000261699.4:c.1217C>T	14.37:g.50704423G>A	ENSP00000261699:p.Pro406Leu	NA	Q9BRR1	37		.	.	.	.	.	.	.	.	.	.	G	15.45	2.835940	0.50951	.	.	ENSG00000087299	ENST00000261699	D	0.92699	-3.09	4.54	-1.11	0.09840	.	.	.	.	.	D	0.93946	0.8062	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85113	0.0964	8	0.87932	D	0	.	4.3647	0.11218	0.4596:0.1691:0.3713:0.0	.	406	C9JVN9	.	L	406	ENSP00000261699:P406L	ENSP00000261699:P406L	P	-	2	0	L2HGDH	49774173	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-0.086000	0.11233	-0.302000	0.08869	-1.446000	0.01064	CCG	L2HGDH-002	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000276871.1		-	ENST00000261699.4	Missense_Mutation	SNP	14 : 50704423 - 50704423 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	142	15
LHX3	8022	broad.mit.edu	37	9	139090879	139090879	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:139090879G>A	ENST00000371746.3	-	4	614	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	LHX3_ENST00000371748.5_Missense_Mutation_p.R161C	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	161					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ATGGTCGTGCGCGGCCGCTTG	0.761		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	18	18			NA	NA	9		NA											NA				139090879		2191	4289	6480	SO:0001583	missense			AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187	8022	8022		Homeoboxes / LIM class	6595	protein-coding gene	gene with protein product		600577			NA	10598593, 10717474	Standard		NM_178138	NA	Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371746.3:c.496C>T	9.37:g.139090879G>A	ENSP00000360811:p.Arg166Cys	NA	Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	37	CCDS6995.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683978	0.88639	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.99186	-5.53;-5.53	3.81	3.81	0.43845	Homeobox (3);Zinc finger, LIM-type (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97659	1.0159	10	0.87932	D	0	.	10.2927	0.43605	0.0:0.0:0.8028:0.1972	.	161;166	Q9UBR4;F1T0D9	LHX3_HUMAN;.	C	161;166;164	ENSP00000360813:R161C;ENSP00000360811:R166C	ENSP00000319224:R164C	R	-	1	0	LHX3	138230700	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.984000	0.76186	1.959000	0.56917	0.555000	0.69702	CGC	LHX3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055049.1		-	ENST00000371746.3	Missense_Mutation	SNP	9 : 139090879 - 139090879 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	102	25
LRP1	4035	broad.mit.edu	37	12	57554894	57554894	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:57554894G>A	ENST00000243077.3	+	13	2664	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	733					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACAGACCGGAAGGTGGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	73	73			NA	NA	12		NA											NA				57554894		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2198G>A	12.37:g.57554894G>A	ENSP00000243077:p.Arg733Gln	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570954	0.86542	.	.	ENSG00000123384	ENST00000243077	T	0.32023	1.47	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	T	0.60130	0.2245	M	0.84433	2.695	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.63655	-0.6588	10	0.62326	D	0.03	.	16.9063	0.86128	0.0:0.0:1.0:0.0	.	733	Q07954	LRP1_HUMAN	Q	733	ENSP00000243077:R733Q	ENSP00000243077:R733Q	R	+	2	0	LRP1	55841161	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CGG	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57554894 - 57554894 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	348	6
LRRC55	219527	broad.mit.edu	37	11	56950145	56950145	+	Missense_Mutation	SNP	C	C	T	rs143027441	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:56950145C>T	ENST00000497933.1	+	1	925	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	230	LRRCT.					integral to membrane		p.R260C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCGGATCCAGCGCTGTACAGC	0.607		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)						C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	67	63	64		778	5.5	1	11	dbSNP_134	64	1,8591	1.2+/-3.3	0,1,4295	no	missense	LRRC55	NM_001005210.2	180	0,2,6495	TT,TC,CC	NA	0.0116,0.0227,0.0154	probably-damaging	260/342	56950145	2,12992	2201	4296	6497	SO:0001583	missense				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908	219527	219527			32324	protein-coding gene	gene with protein product		615213			NA		Standard	NM_001005210	NM_001005210	NA	Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.778C>T	11.37:g.56950145C>T	ENSP00000419542:p.Arg260Cys	NA	A7E2U7|B2RN81	37	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421766	0.62622	2.27E-4	1.16E-4	ENSG00000183908	ENST00000497933	T	0.22743	1.94	5.53	5.53	0.82687	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000016	T	0.33411	0.0862	L	0.43923	1.385	0.58432	D	0.999998	D	0.89917	1.0	P	0.55871	0.786	T	0.01363	-1.1374	10	0.54805	T	0.06	.	16.3896	0.83531	0.0:1.0:0.0:0.0	.	230	Q6ZSA7	LRC55_HUMAN	C	260	ENSP00000419542:R260C	ENSP00000419542:R260C	R	+	1	0	LRRC55	56706721	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.663000	0.37429	2.608000	0.88229	0.561000	0.74099	CGC	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354503.2		+	ENST00000497933.1	Missense_Mutation	SNP	11 : 56950145 - 56950145 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	487	60
LTB4R2	56413	broad.mit.edu	37	14	24780173	24780173	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:24780173C>T	ENST00000528054.1	+	1	2013	c.396C>T	c.(394-396)tgC>tgT	p.C132C	CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000533293.1_Silent_p.C101C|CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.C101C|CIDEB_ENST00000258807.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	132					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		ACTACGTGTGCGCGCTCAGCA	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													18	18	18			NA	NA	14		NA											NA				24780173		1966	3908	5874	SO:0001819	synonymous_variant			AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906	56413	56413		GPCR / Class A : Leukotriene receptors	19260	protein-coding gene	gene with protein product		605773			NA	11006272, 10934229	Standard		NM_001164692	NA	Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.396C>T	14.37:g.24780173C>T		NA	Q9NPE5	37																																																																																				LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000073194.4		+	ENST00000528054.1	Silent	SNP	14 : 24780173 - 24780173 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	328	42
MAP3K9	4293	broad.mit.edu	37	14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:71209085C>T	ENST00000553414.1	-	5	947	c.632G>A	c.(631-633)cGc>cAc	p.R211H	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000554752.2_Missense_Mutation_p.R517H			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	517	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCTGATGCGGTTGCCATC	0.602		NA											C	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9547	EXOME	NA	NA	0.001	SNP	GBM(114;411 1587 13539 28235 50070)							NA				0													100	94	96			NA	NA	14		NA											NA				71209085		2203	4300	6503	SO:0001583	missense			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432	4293	4293		Mitogen-activated protein kinase cascade / Kinase kinase kinases	6861	protein-coding gene	gene with protein product		600136		MLK1	NA		Standard		NM_001284231	NA	Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000553414.1:c.632G>A	14.37:g.71209085C>T	ENSP00000451038:p.Arg211His	NA	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.47	1.947067	0.34377	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	6.06	5.17	0.71159	Protein kinase-like domain (1);	0.211843	0.49305	D	0.000141	T	0.07413	0.0187	N	0.25245	0.725	0.50171	D	0.999854	B;B;B;B	0.20261	0.001;0.025;0.043;0.005	B;B;B;B	0.20577	0.005;0.009;0.03;0.013	T	0.28332	-1.0047	10	0.35671	T	0.21	.	7.1057	0.25362	0.1401:0.71:0.0:0.1499	.	254;517;517;211	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	H	517;517;211;517;254;245	ENSP00000451612:R517H;ENSP00000451038:R211H;ENSP00000370649:R517H;ENSP00000451921:R254H	ENSP00000005198:R517H	R	-	2	0	MAP3K9	70278838	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.617000	0.54181	1.577000	0.49804	-0.150000	0.13652	CGC	MAP3K9-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412552.1		-	ENST00000553414.1	Missense_Mutation	SNP	14 : 71209085 - 71209085 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	456	5
MARCH5	54708	broad.mit.edu	37	10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGCACACCGCAAAATTCTG	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	79			NA	NA	10		NA											NA				94110927		2203	4300	6503	SO:0001583	missense			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060	54708	54708		MARCH membrane-associated ring fingers, RING-type (C3HC4) zinc fingers	26025	protein-coding gene	gene with protein product		610637	ring finger protein 153	RNF153	NA	14722266	Standard	NM_017824	XM_005269923	NA	Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.800G>A	10.37:g.94110927G>A	ENSP00000351813:p.Arg267His	NA		37	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627017	0.87560	.	.	ENSG00000198060	ENST00000358935	T	0.70986	-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88657	0.3186	10	0.87932	D	0	-4.1613	19.6604	0.95864	0.0:0.0:1.0:0.0	.	267	Q9NX47	MARH5_HUMAN	H	267	ENSP00000351813:R267H	ENSP00000351813:R267H	R	+	2	0	MARCH5	94100907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	CGC	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049388.1		+	ENST00000358935.2	Missense_Mutation	SNP	10 : 94110927 - 94110927 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	723	6
MROH2B	133558	broad.mit.edu	37	5	41065559	41065559	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:41065559C>A	ENST00000399564.4	-	4	685	c.235G>T	c.(235-237)Gtt>Ttt	p.V79F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B	NA											NA						GACACCAAAACCTCACCAGCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	5		NA											NA				41065559		1912	4119	6031	SO:0001583	missense				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495	133558	133558		maestro heat-like repeat containing	26857	protein-coding gene	gene with protein product			HEAT repeat family member 7B2	HEATR7B2	NA	12477932	Standard	NM_173489	NM_173489	NA	Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.235G>T	5.37:g.41065559C>A	ENSP00000382476:p.Val79Phe	NA		37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507698	0.64410	.	.	ENSG00000171495	ENST00000399564	T	0.06449	3.3	5.86	3.03	0.35002	Armadillo-type fold (1);	0.393117	0.21777	N	0.069280	T	0.12860	0.0312	M	0.65498	2.005	0.36710	D	0.880611	D	0.53312	0.959	P	0.51135	0.66	T	0.05370	-1.0889	10	0.72032	D	0.01	.	8.2116	0.31486	0.0:0.6182:0.301:0.0808	.	79	Q7Z745	HTRB2_HUMAN	F	79	ENSP00000382476:V79F	ENSP00000382476:V79F	V	-	1	0	HEATR7B2	41101316	0.849000	0.29639	0.836000	0.33094	0.998000	0.95712	0.571000	0.23669	0.435000	0.26365	0.650000	0.86243	GTT	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367558.2		-	ENST00000399564.4	Missense_Mutation	SNP	5 : 41065559 - 41065559 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	326	31
MUC5AC	4586	broad.mit.edu	37	11	1157562	1157563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:1157562_1157563insT	ENST00000356191.2	+	12	733_734	c.733_734insT	c.(733-735)gtcfs	p.V245fs						mucin 5AC, oligomeric mucus/gel-forming	NA										NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		ACGGAGCAGTGTCAGGACCCTG	0.619		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			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182	4586	4586		Mucins	7515	protein-coding gene	gene with protein product		158373	mucin 5, subtypes A and C, tracheobronchial/gastric		NA	7826332, 9588204	Standard	XM_001130382	XM_006709945	NA	Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.734dupT	11.37:g.1157563_1157563dupT	ENSP00000348519:p.Val245fs	NA		37																																																																																				MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding			+	ENST00000356191.2	Frame_Shift_Ins	INS	11 : 1157562 - 1157563 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	149	27
MUS81	80198	broad.mit.edu	37	11	65630663	65630663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:65630663G>A	ENST00000308110.4	+	7	1082	c.733G>A	c.(733-735)Gct>Act	p.A245T	MUS81_ENST00000533035.1_Missense_Mutation_p.A170T	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	245					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCCAGGAGCAGCTTCAGCAGA	0.637		NA						Homologous recombination						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	41	42			NA	NA	11		NA											NA				65630663		2200	4296	6496	SO:0001583	missense				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732	80198	80198			29814	protein-coding gene	gene with protein product	SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)	606591	MUS81 endonuclease homolog (yeast), MUS81 endonuclease homolog (S. cerevisiae)		NA	11741546, 12374758	Standard	NM_025128	NM_025128	NA	Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.733G>A	11.37:g.65630663G>A	ENSP00000307853:p.Ala245Thr	NA	Q9H7D9	37	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.761|9.761	1.170193|1.170193	0.21621|0.21621	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374;ENST00000530111	T;T|.	0.14766|.	2.48;2.72|.	5.11|5.11	1.93|1.93	0.25924|0.25924	.|.	0.824135|.	0.11566|.	N|.	0.551224|.	T|T	0.34571|0.34571	0.0902|0.0902	L|L	0.41236|0.41236	1.265|1.265	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.21655|0.21655	-1.0239|-1.0239	10|5	0.08599|.	T|.	0.76|.	-6.8355|-6.8355	5.7461|5.7461	0.18120|0.18120	0.1806:0.0:0.6625:0.1569|0.1806:0.0:0.6625:0.1569	.|.	245|.	Q96NY9|.	MUS81_HUMAN|.	T|N	170;245;245|169;140	ENSP00000432287:A170T;ENSP00000307853:A245T|.	ENSP00000307853:A245T|.	A|S	+|+	1|2	0|0	MUS81|MUS81	65387239|65387239	0.107000|0.107000	0.21998|0.21998	0.073000|0.073000	0.20177|0.20177	0.212000|0.212000	0.24457|0.24457	1.083000|1.083000	0.30815|0.30815	1.138000|1.138000	0.42230|0.42230	0.556000|0.556000	0.70494|0.70494	GCT|AGC	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390941.3		+	ENST00000308110.4	Missense_Mutation	SNP	11 : 65630663 - 65630663 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	182	46
MUSK	4593	broad.mit.edu	37	9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:113547892C>T	ENST00000416899.2	+	11	1774	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	MUSK_ENST00000374448.4_Missense_Mutation_p.P558S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	207	209			NA	NA	9		NA											NA				113547892		1966	4156	6122	SO:0001583	missense			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304	4593	4593		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	7525	protein-coding gene	gene with protein product		601296			NA	7546737	Standard		NM_005592	NA	Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000416899.2:c.1648C>T	9.37:g.113547892C>T	ENSP00000393608:p.Pro550Ser	NA	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.084498	0.76642	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88664	-0.83;-2.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90595	0.4540	10	0.33940	T	0.23	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	558	O15146	MUSK_HUMAN	S	564;558;558;472;472;74;556;74	ENSP00000363571:P558S;ENSP00000363561:P74S	ENSP00000189978:P564S	P	+	1	0	MUSK	112587713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	CCG	MUSK-002	NOVEL	non_canonical_TEC|not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000053628.2		+	ENST00000416899.2	Missense_Mutation	SNP	9 : 113547892 - 113547892 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	720	6
MYO16	23026	broad.mit.edu	37	13	109779791	109779791	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:109779791G>A	ENST00000357550.2	+	30	3919	c.3878G>A	c.(3877-3879)cGg>cAg	p.R1293Q	MYO16_ENST00000457511.2_Missense_Mutation_p.R805Q|MYO16_ENST00000356711.2_Missense_Mutation_p.R1293Q	NM_001198950.1	NP_001185879.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1293					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCGTCTCCACGGAAACAGCCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	13		NA											NA				109779791		2203	4300	6503	SO:0001583	missense				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515	23026	23026		Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing	29822	protein-coding gene	gene with protein product	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107	615479			NA	11588169, 17029291, 21946561	Standard	NM_015011	NM_001198950	NA	Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3878G>A	13.37:g.109779791G>A	ENSP00000350160:p.Arg1293Gln	NA	A6H8Y0|A8MTX3|Q5VYX4|Q5VYX5|Q5VYX6|Q6ZS13|Q8N3C2|Q8N948	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064283	0.93898	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.50277	0.75;0.75;0.75	5.5	5.5	0.81552	.	0.000000	0.37178	U	0.002219	T	0.70684	0.3252	M	0.79258	2.445	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.71441	-0.4592	9	.	.	.	.	18.4132	0.90559	0.0:0.0:1.0:0.0	.	805;1293	F8W883;Q9Y6X6	.;MYO16_HUMAN	Q	1293;1293;805	ENSP00000349145:R1293Q;ENSP00000350160:R1293Q;ENSP00000401633:R805Q	.	R	+	2	0	MYO16	108577792	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	8.813000	0.91963	2.584000	0.87258	0.563000	0.77884	CGG	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045746.1		+	ENST00000357550.2	Missense_Mutation	SNP	13 : 109779791 - 109779791 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	186	25
OCA2	4948	broad.mit.edu	37	15	28211955	28211955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28211955G>A	ENST00000353809.5	-	14	1554	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	OCA2_ENST00000354638.3_Missense_Mutation_p.A506V|OCA2_ENST00000382996.2_Missense_Mutation_p.A506V			Q04671	P_HUMAN	oculocutaneous albinism II	506					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGTGAATCCGGCAAAGTCCAG	0.507		NA							Oculocutaneous Albinism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	56	60			NA	NA	15		NA											NA				28211955		2203	4300	6503	SO:0001583	missense	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044	4948	4948			8101	protein-coding gene	gene with protein product	melanocyte-specific transporter protein	611409	oculocutaneous albinism II (pink-eye dilution (murine) homolog), eye color 3 (brown), eye color 2 (central brown), oculocutaneous albinism II (pink-eye dilution homolog, mouse)	D15S12, P, EYCL3, EYCL2	NA		Standard	NM_000275	NM_000275	NA	Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000353809.5:c.1445C>T	15.37:g.28211955G>A	ENSP00000261276:p.Ala482Val	NA	Q15211|Q15212|Q96EN1|Q9UMI5	37		.	.	.	.	.	.	.	.	.	.	G	19.87	3.907629	0.72868	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	T;T;T	0.80480	-1.38;-1.38;-1.38	5.05	5.05	0.67936	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	N	0.16862	0.45	0.58432	D	0.999997	B;P	0.46621	0.196;0.881	B;P	0.51516	0.098;0.672	T	0.77451	-0.2583	10	0.38643	T	0.18	-19.0275	16.249	0.82472	0.0:0.0:1.0:0.0	.	482;506	Q04671-2;Q04671	.;P_HUMAN	V	506;482;506	ENSP00000346659:A506V;ENSP00000261276:A482V;ENSP00000372457:A506V	ENSP00000261276:A482V	A	-	2	0	OCA2	25885550	1.000000	0.71417	0.942000	0.38095	0.482000	0.33219	6.969000	0.76092	2.494000	0.84150	0.555000	0.69702	GCC	OCA2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000250824.1		-	ENST00000353809.5	Missense_Mutation	SNP	15 : 28211955 - 28211955 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	141	4
P2RY12	64805	broad.mit.edu	37	3	151055628	151055628	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:151055628G>A	ENST00000302632.3	-	3	1305	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	336					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TCTTCATTTGGGTCACCACCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	122	123			NA	NA	3		NA											NA				151055628		2203	4300	6503	SO:0001583	missense			AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313	NA	64805		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	18124	protein-coding gene	gene with protein product		600515			NA	11502873, 11104774	Standard		NM_022788	NA	Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.1006C>T	3.37:g.151055628G>A	ENSP00000307259:p.Pro336Ser	NA	D3DNJ5|Q546J7	37	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519990	0.27211	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.59906	0.23	5.48	4.6	0.57074	.	0.944449	0.08953	N	0.869875	T	0.31734	0.0806	N	0.08118	0	0.09310	N	1	B	0.31026	0.304	B	0.23419	0.046	T	0.18808	-1.0325	10	0.15499	T	0.54	-2.2908	5.6313	0.17512	0.1514:0.0:0.6808:0.1678	.	336	Q9H244	P2Y12_HUMAN	S	336;239	ENSP00000307259:P336S	ENSP00000307259:P336S	P	-	1	0	P2RY12	152538318	0.161000	0.22892	0.037000	0.18230	0.021000	0.10359	0.759000	0.26461	1.435000	0.47434	-0.169000	0.13324	CCA	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357796.1		-	ENST00000302632.3	Missense_Mutation	SNP	3 : 151055628 - 151055628 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	600	7
PCSK7	9159	broad.mit.edu	37	11	117090363	117090363	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:117090363G>A	ENST00000320934.3	-	10	1897	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	423	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGCAGGGCCGCACCTGCAGC	0.627		NA	T	IGH@	MLCLS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													57	46	50			NA	NA	11		NA											NA				117090363		2201	4296	6497	SO:0001583	missense			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613	9159	9159			8748	protein-coding gene	gene with protein product		604872			NA	8615762, 9820811	Standard	NM_004716	XM_006718938	NA	Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1267C>T	11.37:g.117090363G>A	ENSP00000325917:p.Arg423Trp	NA	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	37	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802841	0.90623	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.87887	-2.31;-2.31	5.69	4.7	0.59300	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94972	0.8118	10	0.72032	D	0.01	-34.1224	16.525	0.84328	0.0:0.0:0.8607:0.1393	.	423	Q16549	PCSK7_HUMAN	W	423;64;423	ENSP00000325917:R423W;ENSP00000441944:R64W	ENSP00000325917:R423W	R	-	1	2	PCSK7	116595573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.085000	0.71343	2.696000	0.92011	0.557000	0.71058	CGG	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385529.2		-	ENST00000320934.3	Missense_Mutation	SNP	11 : 117090363 - 117090363 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	220	4
PDCD11	22984	broad.mit.edu	37	10	105182763	105182763	+	Missense_Mutation	SNP	C	C	T	rs142899352		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:105182763C>T	ENST00000369797.3	+	18	2610	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	839					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.T839M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGATCCAGACGCTGGCCGAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	urinary_tract(1)						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116	103	107		2516	5	1	10	dbSNP_134	107	0,8600		0,0,4300	no	missense	PDCD11	NM_014976.1	81	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	839/1872	105182763	1,13005	2203	4300	6503	SO:0001583	missense			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843	22984	22984			13408	protein-coding gene	gene with protein product		612333			NA	10229231	Standard		XM_005269647	NA	Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2516C>T	10.37:g.105182763C>T	ENSP00000358812:p.Thr839Met	NA	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669172	0.47677	2.27E-4	0.0	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10288	2.89	5.95	5.04	0.67666	.	0.388932	0.31092	N	0.008272	T	0.12646	0.0307	L	0.51422	1.61	0.35143	D	0.769016	D	0.67145	0.996	B	0.44163	0.443	T	0.07616	-1.0763	10	0.45353	T	0.12	-14.7673	11.5381	0.50651	0.0:0.9178:0.0:0.0822	.	839	Q14690	RRP5_HUMAN	M	839	ENSP00000358812:T839M	ENSP00000358812:T839M	T	+	2	0	PDCD11	105172753	0.029000	0.19370	0.968000	0.41197	0.402000	0.30811	0.122000	0.15687	2.826000	0.97356	0.491000	0.48974	ACG	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050151.1		+	ENST00000369797.3	Missense_Mutation	SNP	10 : 105182763 - 105182763 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	367	50
PDCD1LG2	80380	broad.mit.edu	37	9	5535034	5535034	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:5535034G>A	ENST00000397747.3	+	3	593	c.345G>A	c.(343-345)ctG>ctA	p.L115L	PDCD1LG2_ENST00000397745.2_Silent_p.L115L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	115	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		ACAAGTACCTGACTCTGAAAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	44	46			NA	NA	9		NA											NA				5535034		2203	4300	6503	SO:0001819	synonymous_variant			AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646	80380	80380		CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Endogenous ligands	18731	protein-coding gene	gene with protein product	B7 dendritic cell molecule	605723			NA	11224527	Standard	NM_025239	NM_025239	NA	Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.345G>A	9.37:g.5535034G>A		NA	Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	37	CCDS6465.1																																																																																			PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051634.1		+	ENST00000397747.3	Silent	SNP	9 : 5535034 - 5535034 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	94	10
PLCL2	23228	broad.mit.edu	37	3	17052241	17052241	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:17052241G>A	ENST00000418129.2	+	2	1490	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	PLCL2_ENST00000432376.1_Missense_Mutation_p.R342Q|PLCL2_ENST00000396755.2_Missense_Mutation_p.R342Q|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	468					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGGGTTGCCGGAGTGTTGAA	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	108	109			NA	NA	3		NA											NA				17052241		2203	4300	6503	SO:0001583	missense			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822	23228	23228			9064	protein-coding gene	gene with protein product		614276	phospholipase C, epsilon 2	PLCE2	NA	10470851	Standard		NM_015184	NA	Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1025G>A	3.37:g.17052241G>A	ENSP00000409637:p.Arg342Gln	NA	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	37	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776979|4.776979	0.90195|0.90195	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.81163	.|-1.46;-1.46;-1.46	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.053332	.|0.64402	.|N	.|0.000001	D|D	0.90841|0.90841	0.7123|0.7123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.90920|0.90920	0.4782|0.4782	4|9	.|0.87932	.|D	.|0	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|468	.|Q9UPR0	.|PLCL2_HUMAN	R|Q	86|342;469;342;342	.|ENSP00000409637:R342Q;ENSP00000379979:R342Q;ENSP00000412836:R342Q	.|ENSP00000285094:R469Q	G|R	+|+	1|2	0|0	PLCL2|PLCL2	17027245|17027245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	9.869000|9.869000	0.99810|0.99810	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GGA|CGG	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340250.3		+	ENST00000418129.2	Missense_Mutation	SNP	3 : 17052241 - 17052241 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	646	6
POU2AF1	5450	broad.mit.edu	37	11	111225288	111225288	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:111225288C>T	ENST00000393067.3	-	5	983	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	157					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCGGGCGTGGCGGAGCTTCTT	0.642		NA	T	BCL6	NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.1	5450	POU domain, class 2, associating factor 1 (OBF1)		L	0													16	23	21			NA	NA	11		NA											NA				111225288		2194	4293	6487	SO:0001583	missense				CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777	5450	5450			9211	protein-coding gene	gene with protein product		601206	POU domain class 2, associating factor 1		NA	8617501	Standard	NM_006235	NM_006235	NA	Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.469G>A	11.37:g.111225288C>T	ENSP00000376786:p.Ala157Thr	NA	B2R8Z9|Q14983	37	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578757	0.65878	.	.	ENSG00000110777	ENST00000393067	T	0.30448	1.53	4.87	1.8	0.24995	.	0.529845	0.18793	N	0.131018	T	0.26085	0.0636	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.23084	-1.0198	10	0.51188	T	0.08	-25.8385	5.1776	0.15143	0.1407:0.6002:0.0:0.259	.	157	Q16633	OBF1_HUMAN	T	157	ENSP00000376786:A157T	ENSP00000376786:A157T	A	-	1	0	POU2AF1	110730498	0.018000	0.18449	0.001000	0.08648	0.845000	0.48019	0.185000	0.16958	0.189000	0.20188	0.563000	0.77884	GCC	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391002.1		-	ENST00000393067.3	Missense_Mutation	SNP	11 : 111225288 - 111225288 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	24	6
PREX1	57580	broad.mit.edu	37	20	47262580	47262580	+	Silent	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:47262580G>A	ENST00000371941.3	-	26	3343	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	PREX1_ENST00000396220.1_Silent_p.I1107I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1107					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGGCTCTGTGATGGTGGACA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	55	56			NA	NA	20		NA											NA				47262580		2203	4300	6503	SO:0001819	synonymous_variant			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126	57580	57580		Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing	32594	protein-coding gene	gene with protein product		606905			NA	11955434, 15545267, 16301320	Standard	NM_020820	NM_020820	NA	Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3321C>T	20.37:g.47262580G>A		NA	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	37	CCDS13410.1																																																																																			PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079623.1		-	ENST00000371941.3	Silent	SNP	20 : 47262580 - 47262580 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	298	81
PRSS55	203074	broad.mit.edu	37	8	10383123	10383123	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:10383123C>T	ENST00000522210.1	+	1	68	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	PRSS55_ENST00000328655.3_Silent_p.L10L|PRSS51_ENST00000523024.1_RNA	NM_001197020.1	NP_001183949.1	Q6UWB4	PRS55_HUMAN	protease, serine, 55	10					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GTTGCTGCTCCTGTCCCTGGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	81	88			NA	NA	8		NA											NA				10383123		2203	4300	6503	SO:0001819	synonymous_variant			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647	203074	203074		Serine peptidases / Serine peptidases	30824	protein-coding gene	gene with protein product		615144			NA	12975309, 18844450	Standard	NM_198464	NM_198464	NA	Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000522210.1:c.28C>T	8.37:g.10383123C>T		NA		37	CCDS56523.1																																																																																			PRSS55-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375671.1		+	ENST00000522210.1	Silent	SNP	8 : 10383123 - 10383123 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	306	114
PSG6	5675	broad.mit.edu	37	19	43420517	43420517	+	Missense_Mutation	SNP	T	T	C	rs140507212		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:43420517T>C	ENST00000402603.4	-	2	276	c.187A>G	c.(187-189)Act>Gct	p.T63A	PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000187910.2_Missense_Mutation_p.T63A|PSG6_ENST00000292125.2_Missense_Mutation_p.T63A					pregnancy specific beta-1-glycoprotein 6	NA										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATGTAGCCAGTAAGATTCTGG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	215	215			NA	NA	19		NA											NA				43420517		2202	4299	6501	SO:0001583	missense				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848	5675	5675		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9523	protein-coding gene	gene with protein product		176395			NA	1690992	Standard	NM_002782	NM_002782	NA	Approved			Q00889	OTTHUMG00000151127	ENST00000402603.4:c.187A>G	19.37:g.43420517T>C	ENSP00000385736:p.Thr63Ala	NA		37		.	.	.	.	.	.	.	.	.	.	N	0.008	-1.914902	0.00503	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.01464	4.86;4.86;4.86	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00784	0.0026	N	0.11651	0.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.002;0.001;0.006	T	0.46020	-0.9221	9	0.05959	T	0.93	.	0.9301	0.01333	0.2963:0.2272:0.3254:0.1511	.	63;63;63	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	A	63	ENSP00000187910:T63A;ENSP00000385736:T63A;ENSP00000292125:T63A	ENSP00000187910:T63A	T	-	1	0	PSG6	48112357	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.985000	0.00163	-2.639000	0.00430	-1.366000	0.01203	ACT	PSG6-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000321437.2		-	ENST00000402603.4	Missense_Mutation	SNP	19 : 43420517 - 43420517 C PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	1308	7
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	116					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393		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)											87	75	79			NA	NA	7		NA											NA				56085002		2203	4300	6503	SO:0001583	missense			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	5723	5723	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP	NA	6297854, 9188776	Standard	NM_004577	NM_004577	NA	Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile	NA	B2RCR5|Q7Z3S5	37	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343304.1		-	ENST00000395471.3	Missense_Mutation	SNP	7 : 56085002 - 56085002 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	327	5
RUNX3	864	broad.mit.edu	37	1	25254076	25254076	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:25254076C>T	ENST00000308873.6	-	2	436	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RUNX3_ENST00000540420.1_Missense_Mutation_p.R50H|RUNX3_ENST00000338888.3_Missense_Mutation_p.R157H|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000399916.1_Missense_Mutation_p.R157H	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	143	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TCGCCCACTGCGGCCCACGAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	76	80			NA	NA	1		NA											NA				25254076		2203	4300	6503	SO:0001583	missense			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633	864	864			10473	protein-coding gene	gene with protein product		600210		CBFA3	NA	7835892	Standard	NM_004350	NM_001031680	NA	Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.428G>A	1.37:g.25254076C>T	ENSP00000308051:p.Arg143His	NA	Q12969|Q13760	37	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	36	5.873516	0.97049	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.99714	-6.5;-6.5;-6.5;-6.5	5.65	5.65	0.86999	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.78314	0.991;0.991;0.991	D	0.97489	1.0052	10	0.87932	D	0	-32.702	19.3352	0.94314	0.0:1.0:0.0:0.0	.	143;157;143	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	H	157;143;157;50;143	ENSP00000382800:R157H;ENSP00000308051:R143H;ENSP00000343477:R157H;ENSP00000444872:R50H	ENSP00000308051:R143H	R	-	2	0	RUNX3	25126663	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.484000	0.81180	2.642000	0.89623	0.655000	0.94253	CGC	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009284.1		-	ENST00000308873.6	Missense_Mutation	SNP	1 : 25254076 - 25254076 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	426	5
RYR2	6262	broad.mit.edu	37	1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R|RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2.				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)			AGTGAAGGCCGGACGGTGGTA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	134	134			NA	NA	1		NA											NA				237729947		1973	4146	6119	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.3295G>A	1.37:g.237729947G>A	ENSP00000355533:p.Gly1099Arg	NA	Q15411|Q546N8|Q5T3P2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569236	0.86439	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92348	-3.02;-3.02;-3.02	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000010	D	0.96645	0.8905	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97217	0.9875	10	0.87932	D	0	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1099	Q92736	RYR2_HUMAN	R	1099;1097;1083	ENSP00000355533:G1099R;ENSP00000353174:G1097R;ENSP00000443798:G1083R	ENSP00000353174:G1097R	G	+	1	0	RYR2	235796570	1.000000	0.71417	0.874000	0.34290	0.873000	0.50193	7.924000	0.87555	2.465000	0.83290	0.655000	0.94253	GGA	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095402.2		+	ENST00000366574.2	Missense_Mutation	SNP	1 : 237729947 - 237729947 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	627	6
SCN2A	6326	broad.mit.edu	37	2	166201198	166201198	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:166201198G>A	ENST00000375437.2	+	16	2986	c.2696G>A	c.(2695-2697)gGc>gAc	p.G899D	SCN2A_ENST00000375427.2_Missense_Mutation_p.G899D|SCN2A_ENST00000283256.6_Missense_Mutation_p.G899D|SCN2A_ENST00000357398.3_Missense_Mutation_p.G899D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	899					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTGTGGTCGGCATGCAGCTC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	160	163			NA	NA	2		NA											NA				166201198		2203	4300	6503	SO:0001583	missense			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	6326	6326		Sodium channels, Voltage-gated ion channels / Sodium channels	10588	protein-coding gene	gene with protein product		182390	sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha 1 polypeptide	SCN2A1, SCN2A2	NA	1317301, 16382098	Standard	NM_021007	XM_005246753	NA	Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2696G>A	2.37:g.166201198G>A	ENSP00000364586:p.Gly899Asp	NA	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064264	0.93898	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99444	0.9803	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98030	1.0376	10	0.87932	D	0	.	19.9329	0.97127	0.0:0.0:1.0:0.0	.	899;899	Q99250-2;Q99250	.;SCN2A_HUMAN	D	899	ENSP00000364586:G899D;ENSP00000349973:G899D;ENSP00000283256:G899D;ENSP00000364576:G899D	ENSP00000283256:G899D	G	+	2	0	SCN2A	165909444	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.735000	0.98825	2.714000	0.92807	0.650000	0.86243	GGC	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000102659.2		+	ENST00000375437.2	Missense_Mutation	SNP	2 : 166201198 - 166201198 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	778	7
SLAIN2	57606	broad.mit.edu	37	4	48379970	48379970	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:48379970C>G	ENST00000264313.6	+	3	1014	c.596C>G	c.(595-597)cCt>cGt	p.P199R	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P6R|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	199						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TACACCAGTCCTTACAGTCCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	97	98			NA	NA	4		NA											NA				48379970		1882	4107	5989	SO:0001583	missense			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171	57606	57606			29282	protein-coding gene	gene with protein product		610492	KIAA1458	KIAA1458	NA	16546155	Standard	NM_020846	NM_020846	NA	Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.596C>G	4.37:g.48379970C>G	ENSP00000264313:p.Pro199Arg	NA	A8K4P1|Q8N5R3	37	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377180	0.61735	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.76	5.76	0.90799	.	0.207938	0.42420	D	0.000708	T	0.52613	0.1745	L	0.29908	0.895	0.46131	D	0.998881	B	0.34200	0.441	B	0.36030	0.216	T	0.55866	-0.8073	9	0.87932	D	0	-3.4428	19.9601	0.97247	0.0:1.0:0.0:0.0	.	199	Q9P270	SLAI2_HUMAN	R	199;6	.	ENSP00000264313:P199R	P	+	2	0	SLAIN2	48074727	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.168000	0.64978	2.720000	0.93068	0.655000	0.94253	CCT	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365807.4		+	ENST00000264313.6	Missense_Mutation	SNP	4 : 48379970 - 48379970 G PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	517	146
SLC12A3	6559	broad.mit.edu	37	16	56920974	56920974	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:56920974A>G	ENST00000438926.2	+	17	2176	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	SLC12A3_ENST00000563236.1_Missense_Mutation_p.D716G|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D715G|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D715G	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	716					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATTGCCGAGGACCTCCGCAGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	80	84			NA	NA	16		NA											NA				56920974		2198	4300	6498	SO:0001583	missense				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915	NA	6559		Solute carriers	10912	protein-coding gene	gene with protein product		600968			NA	8812482	Standard		NM_000339	NA	Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000438926.2:c.2147A>G	16.37:g.56920974A>G	ENSP00000402152:p.Asp716Gly	NA	A8MSJ2|C9JNN9	37	CCDS10770.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675396	0.47781	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.66	5.66	0.87406	.	0.153400	0.56097	D	0.000024	T	0.65575	0.2704	M	0.68317	2.08	0.80722	D	1	B;B;B	0.27910	0.193;0.006;0.011	B;B;B	0.34346	0.18;0.017;0.034	T	0.65598	-0.6129	9	0.52906	T	0.07	.	15.9025	0.79392	1.0:0.0:0.0:0.0	.	715;716;716	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	G	715;716	.	ENSP00000262502:D716G	D	+	2	0	SLC12A3	55478475	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.121000	0.71602	2.155000	0.67459	0.450000	0.29827	GAC	SLC12A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257064.2		+	ENST00000438926.2	Missense_Mutation	SNP	16 : 56920974 - 56920974 G PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	339	30
SLC18A3	6572	broad.mit.edu	37	10	50819803	50819803	+	Silent	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:50819803G>T	ENST00000374115.3	+	1	1457	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	339					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCCTCATGTGCTGGGCGTCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	70	70			NA	NA	10		NA											NA				50819803		2203	4300	6503	SO:0001819	synonymous_variant			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714	6572	6572		Solute carriers	10936	protein-coding gene	gene with protein product		600336			NA	8071310	Standard	NM_003055	NM_003055	NA	Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1017G>T	10.37:g.50819803G>T		NA	B2R7S1	37	CCDS7231.1																																																																																			SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047995.1		+	ENST00000374115.3	Silent	SNP	10 : 50819803 - 50819803 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	689	80
SLX4	84464	broad.mit.edu	37	16	3652237	3652237	+	Missense_Mutation	SNP	G	G	A	rs141597706	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:3652237G>A	ENST00000294008.3	-	4	1472	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	278	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R278W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTCCTACCCGTGCAAACTCC	0.562		NA						Direct reversal of damage					G	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	9e-04	SNP								NA				1	Substitution - Missense(1)	prostate(1)						G	TRP/ARG	2,4392	4.2+/-10.8	0,2,2195	117	106	110		832	4.8	0.2	16	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLX4	NM_032444.2	101	0,3,6494	AA,AG,GG	NA	0.0116,0.0455,0.0231	probably-damaging	278/1835	3652237	3,12991	2197	4300	6497	SO:0001583	missense			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827	84464	84464		Fanconi anemia, complementation groups, BTB/POZ domain containing	23845	protein-coding gene	gene with protein product	Fanconi anemia, complementation group P	613278	BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)	BTBD12	NA	11347906, 19595721	Standard	NM_032444	NM_032444	NA	Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.832C>T	16.37:g.3652237G>A	ENSP00000294008:p.Arg278Trp	NA	Q69YT8|Q8TF15|Q96JP1	37	CCDS10506.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.09	2.731181	0.48939	4.55E-4	1.16E-4	ENSG00000188827	ENST00000294008	T	0.01406	4.93	5.83	4.85	0.62838	.	0.801221	0.11740	N	0.534142	T	0.03178	0.0093	L	0.39898	1.24	0.09310	N	1	D	0.69078	0.997	P	0.50490	0.642	T	0.50145	-0.8862	10	0.72032	D	0.01	.	12.7343	0.57214	0.0:0.0:0.6469:0.3531	.	278	Q8IY92	SLX4_HUMAN	W	278	ENSP00000294008:R278W	ENSP00000294008:R278W	R	-	1	2	SLX4	3592238	0.154000	0.22792	0.182000	0.23118	0.268000	0.26511	1.037000	0.30241	1.377000	0.46286	0.655000	0.94253	CGG	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157301.3		-	ENST00000294008.3	Missense_Mutation	SNP	16 : 3652237 - 3652237 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	600	5
SOGA1	140710	broad.mit.edu	37	20	35444329	35444329	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:35444329C>T	ENST00000237536.4	-	5	1857	c.1516G>A	c.(1516-1518)Ggg>Agg	p.G506R	SOGA1_ENST00000357779.3_Missense_Mutation_p.G268R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G109R|SOGA1_ENST00000279034.6_Missense_Mutation_p.G268R	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	268										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AAGCTCTCCCCGCACTCTCCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	43	41			NA	NA	20		NA											NA				35444329		2157	4253	6410	SO:0001583	missense			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639	140710	140710			16111	protein-coding gene	gene with protein product	suppressor of glucose by autophagy, suppressor of glucose from autophagy		chromosome 20 open reading frame 117, KIAA0889	C20orf117, KIAA0889	NA	20813965	Standard	NM_199181	NM_080627	NA	Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000237536.4:c.1516G>A	20.37:g.35444329C>T	ENSP00000237536:p.Gly506Arg	NA	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	37	CCDS54459.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123581	0.56613	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18810	2.2;2.2;2.25;2.19	5.24	4.3	0.51218	.	0.303544	0.32301	N	0.006290	T	0.22666	0.0547	N	0.14661	0.345	0.41164	D	0.986118	D	0.67145	0.996	P	0.61070	0.883	T	0.05354	-1.0890	10	0.18276	T	0.48	-55.9132	12.7227	0.57152	0.0:0.9197:0.0:0.0803	.	268	O94964-4	.	R	506;268;109;268	ENSP00000237536:G506R;ENSP00000279034:G268R;ENSP00000413886:G109R;ENSP00000350424:G268R	ENSP00000237536:G506R	G	-	1	0	KIAA0889	34877743	0.978000	0.34361	0.997000	0.53966	0.685000	0.39939	2.532000	0.45659	1.440000	0.47531	0.655000	0.94253	GGG	SOGA1-005	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276635.1		-	ENST00000237536.4	Missense_Mutation	SNP	20 : 35444329 - 35444329 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	143	21
SPTA1	6708	broad.mit.edu	37	1	158585164	158585164	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:158585164C>T	ENST00000368147.4	-	48	6810	c.6630G>A	c.(6628-6630)aaG>aaA	p.K2210K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTAGTTGACGCTTCATCGCCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	161	162			NA	NA	1		NA											NA				158585164		1934	4147	6081	SO:0001819	synonymous_variant			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6630G>A	1.37:g.158585164C>T		NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1																																																																																			SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Silent	SNP	1 : 158585164 - 158585164 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	699	6
STIP1	10963	broad.mit.edu	37	11	63971050	63971050	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:63971050C>T	ENST00000358794.5	+	13	2209	c.1656C>T	c.(1654-1656)cgC>cgT	p.R552R	STIP1_ENST00000538945.1_Silent_p.R481R|STIP1_ENST00000305218.4_Silent_p.R505R	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	505					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CAGCCATGCGCCTTATCCTGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	49	54			NA	NA	11		NA											NA				63971050		2201	4297	6498	SO:0001819	synonymous_variant			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439	10963	10963		Tetratricopeptide (TTC) repeat domain containing	11387	protein-coding gene	gene with protein product	Hsp70/Hsp90-organizing protein	605063	stress-induced-phosphoprotein 1		NA	1569099	Standard	NM_006819	NM_006819	NA	Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000358794.5:c.1656C>T	11.37:g.63971050C>T		NA	Q5TZU9	37																																																																																				STIP1-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396930.1		+	ENST00000358794.5	Silent	SNP	11 : 63971050 - 63971050 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	218	61
TANC2	26115	broad.mit.edu	37	17	61483573	61483573	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:61483573G>A	ENST00000424789.2	+	19	3306	c.3302G>A	c.(3301-3303)cGc>cAc	p.R1101H	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1101H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1101							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAGCAGGGCCGCACTCCCCTG	0.512		NA									OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	112	113			NA	NA	17		NA											NA				61483573		1972	4167	6139	SO:0001583	missense			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921	26115	26115		Ankyrin repeat domain containing, Tetratricopeptide (TTC) repeat domain containing	30212	protein-coding gene	gene with protein product	rolling pebbles homolog B (Drosophila)	615047			NA		Standard		NM_025185	NA	Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3302G>A	17.37:g.61483573G>A	ENSP00000387593:p.Arg1101His	1054	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398436	0.96030	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66280	-0.2;-0.2	5.48	5.48	0.80851	Ankyrin repeat-containing domain (4);	0.055575	0.64402	D	0.000001	T	0.76357	0.3976	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.77368	-0.2614	10	0.66056	D	0.02	.	19.3674	0.94469	0.0:0.0:1.0:0.0	.	1101;1101	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	1101	ENSP00000374171:R1101H;ENSP00000387593:R1101H	ENSP00000374171:R1101H	R	+	2	0	TANC2	58837305	1.000000	0.71417	0.966000	0.40874	0.973000	0.67179	9.810000	0.99221	2.587000	0.87381	0.462000	0.41574	CGC	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444765.1		+	ENST00000424789.2	Missense_Mutation	SNP	17 : 61483573 - 61483573 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	474	5
TBC1D1	23216	broad.mit.edu	37	4	38023260	38023260	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:38023260G>T	ENST00000261439.4	+	6	1486	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	TBC1D1_ENST00000508802.1_Missense_Mutation_p.Q377H	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	377	PID.					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						CCGCAGTGCAGCAGACAGCTA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	33	34			NA	NA	4		NA											NA				38023260		2203	4300	6503	SO:0001583	missense			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.1131G>T	4.37:g.38023260G>T	ENSP00000261439:p.Gln377His	NA	Q96K82|Q9UPP4	37	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.32|17.32	3.358757|3.358757	0.61403|0.61403	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000508802;ENST00000261439;ENST00000446803	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.76|5.76	4.01|4.01	0.46588|0.46588	.|Phosphotyrosine interaction domain (1);	.|0.112392	.|0.39985	.|N	.|0.001213	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D;B;D	.|0.89917	.|1.0;1.0;0.028;1.0	.|D;D;B;D	.|0.81914	.|0.99;0.995;0.018;0.99	T|T	0.02713|0.02713	-1.1120|-1.1120	5|10	.|0.40728	.|T	.|0.16	-24.9276|-24.9276	5.7525|5.7525	0.18154|0.18154	0.1938:0.0:0.6522:0.154|0.1938:0.0:0.6522:0.154	.|.	.|377;377;109;377	.|B9A6J6;E9PGH8;Q6PJJ8;Q86TI0	.|.;.;.;TBCD1_HUMAN	S|H	25|377;377;248	.|ENSP00000423651:Q377H;ENSP00000261439:Q377H;ENSP00000396877:Q248H	.|ENSP00000261439:Q377H	A|Q	+|+	1|3	0|2	TBC1D1|TBC1D1	37699655|37699655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	6.142000|6.142000	0.71750|0.71750	0.761000|0.761000	0.33130|0.33130	0.591000|0.591000	0.81541|0.81541	GCA|CAG	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317443.2		+	ENST00000261439.4	Missense_Mutation	SNP	4 : 38023260 - 38023260 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	123	9
TGFBR1	7046	broad.mit.edu	37	9	101907091	101907091	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:101907091G>C	ENST00000374994.4	+	6	1168	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H	TGFBR1_ENST00000550253.1_Missense_Mutation_p.D282H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D274H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D355H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	351	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTGTATTGCAGACTTAGGACT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	128	130			NA	NA	9		NA											NA				101907091		2203	4300	6503	SO:0001583	missense				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799	7046	7046			11772	protein-coding gene	gene with protein product	activin A receptor type II-like kinase, 53kDa	190181	transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD), multiple self-healing squamous epithelioma	MSSE, ESS1	NA	1319842, 8530052, 21358634	Standard		NM_001130916	NA	Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1051G>C	9.37:g.101907091G>C	ENSP00000364133:p.Asp351His	NA	Q6IR47|Q706C0|Q706C1	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867703	0.91587	.	.	ENSG00000106799	ENST00000374994;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042450	0.85682	N	0.000000	D	0.98726	0.9572	H	0.99964	5.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99063	1.0831	10	0.87932	D	0	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	274;351	P36897-3;P36897	.;TGFR1_HUMAN	H	351;274;355;282	ENSP00000364133:D351H;ENSP00000364129:D274H;ENSP00000447297:D355H;ENSP00000450052:D282H	ENSP00000364129:D274H	D	+	1	0	TGFBR1	100946912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.854000	0.98071	0.655000	0.94253	GAC	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053390.3		+	ENST00000374994.4	Missense_Mutation	SNP	9 : 101907091 - 101907091 C PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	319	7
TOX4	9878	broad.mit.edu	37	14	21961173	21961173	+	Silent	SNP	T	T	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:21961173T>C	ENST00000405508.1	+	8	1674	c.1398T>C	c.(1396-1398)ccT>ccC	p.P466P	TOX4_ENST00000262709.3_Silent_p.P466P|TOX4_ENST00000448790.2_Silent_p.P443P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	466	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGCAGCAGCCTCCTCCACTCC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	80	83			NA	NA	14		NA											NA				21961173		2203	4300	6503	SO:0001819	synonymous_variant			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203	9878	9878			20161	protein-coding gene	gene with protein product		614032	chromosome 14 open reading frame 92, KIAA0737	C14orf92, KIAA0737	NA		Standard	NM_014828	NM_014828	NA	Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1398T>C	14.37:g.21961173T>C		NA		37	CCDS32043.1																																																																																			TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317287.2		+	ENST00000405508.1	Silent	SNP	14 : 21961173 - 21961173 C PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	696	65
TP53	7157	broad.mit.edu	37	17	7579320	7579321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7579320_7579321insC	ENST00000420246.2	-	4	498_499	c.366_367insG	c.(364-369)gtgactfs	p.T123fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T123fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.T123fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	123	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> I (in a sporadic cancer; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCGTGCAAGTCACAGACTTGG	0.55		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	24	Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(2)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|breast(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|liver(1)|ovary(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.367dupG	17.37:g.7579321_7579321dupC	ENSP00000391127:p.Thr123fs	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1																																																																																			TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Frame_Shift_Ins	INS	17 : 7579320 - 7579321 C PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	287	58
TTBK1	84630	broad.mit.edu	37	6	43222815	43222815	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:43222815C>T	ENST00000304139.5	+	6	614	c.452C>T	c.(451-453)aCg>aTg	p.T151M	TTBK1_ENST00000259750.4_Missense_Mutation_p.T202M			Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	202	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTTCGAGGAACGGTTCGCTAT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	108	120			NA	NA	6		NA											NA				43222815		2203	4300	6503	SO:0001583	missense			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216	84630	84630			19140	protein-coding gene	gene with protein product					NA	11347906	Standard		XM_006715229	NA	Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000304139.5:c.452C>T	6.37:g.43222815C>T	ENSP00000307357:p.Thr151Met	NA	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	37		.	.	.	.	.	.	.	.	.	.	C	26.2	4.712948	0.89112	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.76839	-1.05	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92756	0.7697	H	0.99336	4.52	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.95848	0.8872	10	0.87932	D	0	.	16.6948	0.85332	0.0:1.0:0.0:0.0	.	202	Q5TCY1	TTBK1_HUMAN	M	151;202;151	ENSP00000259750:T202M	ENSP00000259750:T202M	T	+	2	0	TTBK1	43330793	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.413000	0.80104	2.242000	0.73789	0.655000	0.94253	ACG	TTBK1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000280664.3		+	ENST00000304139.5	Missense_Mutation	SNP	6 : 43222815 - 43222815 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	213	5
TTN	7273	broad.mit.edu	37	2	179407109	179407109	+	Silent	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:179407109C>T	ENST00000589042.1	-	349	97598	c.97374G>A	c.(97372-97374)acG>acA	p.T32458T	TTN_ENST00000342992.6_Silent_p.T29890T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.T23393T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.T23518T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T23585T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T30817T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30817							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACTTAAACGTGGACCTAG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	73	74			NA	NA	2		NA											NA				179407109		2038	4201	6239	SO:0001819	synonymous_variant			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.97374G>A	2.37:g.179407109C>T		NA	E7ET18	37	CCDS59435.1																																																																																			TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Silent	SNP	2 : 179407109 - 179407109 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	200	53
VSTM4	196740	broad.mit.edu	37	10	50315817	50315817	+	Silent	SNP	G	G	A	rs111748147	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:50315817G>A	ENST00000332853.4	-	2	302	c.279C>T	c.(277-279)agC>agT	p.S93S	VSTM4_ENST00000298454.3_Silent_p.S93S	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	NA	Ig-like.					integral to membrane|plasma membrane		p.S93S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCCGTTTGGCGCTGCGGCTGA	0.612		NA											g	17	0.01	0.03	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	0.0078	0.9916	LOWCOV,EXOME	NA	NA	0.0024	SNP								NA				2	Substitution - coding silent(2)	large_intestine(2)						A	,	84,4322	71.4+/-109.4	2,80,2121	63	64	63		279,279	-10.7	0	10	dbSNP_132	63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	VSTM4	NM_001031746.3,NM_144984.2	,	2,82,6419	AA,AG,GG	NA	0.0233,1.9065,0.6612	,	93/321,93/192	50315817	86,12920	2203	4300	6503	SO:0001819	synonymous_variant			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633	196740	196740		Immunoglobulin superfamily / V-set domain containing	26470	protein-coding gene	gene with protein product			chromosome 10 open reading frame 72	C10orf72	NA		Standard	NM_144984	XR_246075	NA	Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.279C>T	10.37:g.50315817G>A		NA	Q96MX7	37	CCDS31198.1																																																																																			VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047966.2		-	ENST00000332853.4	Silent	SNP	10 : 50315817 - 50315817 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	453	70
WHSC1L1	54904	broad.mit.edu	37	8	38205614	38205614	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:38205614C>T	ENST00000317025.8	-	2	593	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A26T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A26T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A26T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	26					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CGGATGTTGGCGGAGTCAATG	0.453		NA	T	NUP98	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													170	151	158			NA	NA	8		NA											NA				38205614		2203	4300	6503	SO:0001583	missense			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548	54904	54904			12767	protein-coding gene	gene with protein product		607083			NA	10802047, 23269674	Standard	NM_023034	NM_023034	NA	Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.76G>A	8.37:g.38205614C>T	ENSP00000313983:p.Ala26Thr	NA	D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358909	0.95854	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.96651	-4.08;-4.02;-4.02;-0.76;0.39	5.56	5.56	0.83823	.	0.000000	0.47852	U	0.000201	D	0.97420	0.9156	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.996;0.999;0.99	D	0.98006	1.0363	10	0.87932	D	0	.	19.8909	0.96929	0.0:1.0:0.0:0.0	.	26;26;26;26	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	T	26	ENSP00000393284:A26T;ENSP00000313983:A26T;ENSP00000434730:A26T;ENSP00000313410:A26T;ENSP00000435422:A26T	ENSP00000313410:A26T	A	-	1	0	WHSC1L1	38324771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.745000	0.68672	2.765000	0.95021	0.655000	0.94253	GCC	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381924.3		-	ENST00000317025.8	Missense_Mutation	SNP	8 : 38205614 - 38205614 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	424	5
YLPM1	56252	broad.mit.edu	37	14	75276279	75276279	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:75276279G>A	ENST00000552421.1	+	6	2724	c.2600G>A	c.(2599-2601)cGa>cAa	p.R867Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1573Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1378Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1378	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACAGGAACGATGGGATGAA	0.478		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	14		NA											NA				75276279		1940	4159	6099	SO:0001583	missense			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596	56252	56252			17798	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 169		chromosome 14 open reading frame 170	C14orf170	NA	7596406	Standard	NM_019589	NM_019589	NA	Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2600G>A	14.37:g.75276279G>A	ENSP00000447921:p.Arg867Gln	NA	P49752|Q96I64|Q9P1V7	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.492754	0.84962	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000008	T	0.66386	0.2784	L	0.27053	0.805	0.42961	D	0.994407	D;D	0.89917	0.997;1.0	D;D	0.81914	0.964;0.995	T	0.70139	-0.4954	9	0.72032	D	0.01	-5.0092	17.6519	0.88167	0.0:0.0:1.0:0.0	.	1378;1573	P49750-3;P49750-4	.;.	Q	867;1573;1378;1286	.	ENSP00000238571:R1378Q	R	+	2	0	YLPM1	74346032	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.826000	0.75298	2.588000	0.87417	0.591000	0.81541	CGA	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404450.1		+	ENST00000552421.1	Missense_Mutation	SNP	14 : 75276279 - 75276279 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	115	29
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	0.0018	SNP								NA				0													118	123	122			NA	NA	4		NA											NA				188924640		2203	4300	6503	SO:0001583	missense			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059	132625	132625		Zinc fingers, C2H2-type	30949	protein-coding gene	gene with protein product		614572	zinc finger protein 42 homolog (mouse), zinc finger protein 42		NA	12110702	Standard	NM_174900	NM_174900	NA	Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.679G>A	4.37:g.188924640G>A	ENSP00000317686:p.Val227Ile	NA	D3DP65|Q8WXE2	37	CCDS3849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.42	1.345682	0.24426	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.41400	1.0;1.0	4.39	-8.78	0.00824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.214960	0.06385	N	0.715986	T	0.16171	0.0389	N	0.16478	0.41	0.09310	N	1	B	0.27316	0.175	B	0.14023	0.01	T	0.08953	-1.0697	10	0.17832	T	0.49	.	1.3926	0.02253	0.1903:0.3391:0.2374:0.2333	.	227	Q96MM3	ZFP42_HUMAN	I	227	ENSP00000317686:V227I;ENSP00000424662:V227I	ENSP00000317686:V227I	V	+	1	0	ZFP42	189161634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	-3.355000	0.00180	-0.892000	0.02923	GTT	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359794.1		+	ENST00000326866.4	Missense_Mutation	SNP	4 : 188924640 - 188924640 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	386	63
ZMAT4	79698	broad.mit.edu	37	8	40532370	40532370	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:40532370C>G	ENST00000297737.6	-	5	576	c.430G>C	c.(430-432)Gac>Cac	p.D144H	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	144						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CAGTATCTGTCTGAATCTCTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	187	188			NA	NA	8		NA											NA				40532370		2203	4300	6503	SO:0001583	missense			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061	79698	79698		Zinc fingers, matrin-type	25844	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024645	NM_024645	NA	Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.430G>C	8.37:g.40532370C>G	ENSP00000297737:p.Asp144His	NA	Q8WUT8	37	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608201	0.87258	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.42513	0.97;0.97	5.88	5.88	0.94601	Zinc finger, U1-type (1);	0.260803	0.46442	D	0.000283	T	0.34803	0.0910	N	0.24115	0.695	0.58432	D	0.999996	P	0.49961	0.93	P	0.44732	0.459	T	0.03773	-1.1005	10	0.15066	T	0.55	-30.1803	18.7792	0.91925	0.0:1.0:0.0:0.0	.	144	Q9H898	ZMAT4_HUMAN	H	144	ENSP00000297737:D144H;ENSP00000428423:D144H	ENSP00000297737:D144H	D	-	1	0	ZMAT4	40651527	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	7.376000	0.79658	2.782000	0.95742	0.557000	0.71058	GAC	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376950.1		-	ENST00000297737.6	Missense_Mutation	SNP	8 : 40532370 - 40532370 G PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	3853	276
ZNF362	149076	broad.mit.edu	37	1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	194				R -> L (in Ref. 1; AAL55863).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAACGCGGCCGCAAAAAGATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(162;1431 2676 35353 38425)							NA				0													24	26	25			NA	NA	1		NA											NA				33745956		2203	4300	6503	SO:0001583	missense				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094	149076	149076		Zinc fingers, C2H2-type	18079	protein-coding gene	gene with protein product	rotund homolog (Drosophila)				NA		Standard	NM_152493	NM_152493	NA	Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.581G>A	1.37:g.33745956G>A	ENSP00000446335:p.Arg194His	NA	Q8WYU4	37	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	36	5.713649	0.96830	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.09163	3.01;3.01	5.99	5.99	0.97316	.	0.468737	0.18085	N	0.152172	T	0.37404	0.1002	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.02512	-1.1148	10	0.87932	D	0	-36.2752	18.0311	0.89285	0.0:0.0:1.0:0.0	.	194	Q5T0B9	ZN362_HUMAN	H	181;194;194	ENSP00000446335:R194H;ENSP00000362527:R194H	ENSP00000362527:R194H	R	+	2	0	ZNF362	33518543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.314000	0.96306	2.857000	0.98124	0.650000	0.86243	CGC	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011857.2		+	ENST00000539719.1	Missense_Mutation	SNP	1 : 33745956 - 33745956 A PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	180	5
ZNF700	90592	broad.mit.edu	37	19	12060731	12060731	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:12060731C>T	ENST00000482090.1	+	3	2256	c.1838C>T	c.(1837-1839)tCt>tTt	p.S613F	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.S631F			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCCTTCAGATCTGCCTCAAAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	83	83			NA	NA	19		NA											NA				12060731		2203	4300	6503	SO:0001583	missense			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757	90592	90592		Zinc fingers, C2H2-type, -	25292	protein-coding gene	gene with protein product					NA		Standard	NM_144566	NM_144566	NA	Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000482090.1:c.1838C>T	19.37:g.12060731C>T	ENSP00000467996:p.Ser613Phe	NA	B9EGU4	37		.	.	.	.	.	.	.	.	.	.	c	0.399	-0.919390	0.02396	.	.	ENSG00000196757	ENST00000254321	T	0.03580	3.88	0.563	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	M	0.62723	1.935	0.09310	N	1	D	0.67145	0.996	D	0.64877	0.93	T	0.24512	-1.0158	9	0.10636	T	0.68	.	7.1331	0.25512	0.0:0.7162:0.2837:0.0	.	631	Q9H0M5	ZN700_HUMAN	F	631	ENSP00000254321:S631F	ENSP00000254321:S631F	S	+	2	0	ZNF700	11921731	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.497000	0.02289	-0.437000	0.07243	0.313000	0.20887	TCT	ZNF700-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000344127.2		+	ENST00000482090.1	Missense_Mutation	SNP	19 : 12060731 - 12060731 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	475	84
ZSWIM8	23053	broad.mit.edu	37	10	75559013	75559013	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:75559013C>T	ENST00000604729.1	+	21	4727	c.4430C>T	c.(4429-4431)gCg>gTg	p.A1477V	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1477V|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1439V|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.A1472V|ZSWIM8_ENST00000604524.1_Intron					zinc finger, SWIM-type containing 8	NA											NA						ACAGTGGCAGCGGCAGCAGTG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	23	20			NA	NA	10		NA											NA				75559013		2050	4215	6265	SO:0001583	missense			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655	23053	23053		Zinc fingers, SWIM-type	23528	protein-coding gene	gene with protein product			KIAA0913	KIAA0913	NA		Standard	NM_001242487	NM_015037	NA	Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000604729.1:c.4430C>T	10.37:g.75559013C>T	ENSP00000474944:p.Ala1477Val	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.475279|4.475279	0.84640|0.84640	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.45668|.	0.89|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.219107|.	0.29884|.	U|.	0.010959|.	T|T	0.49813|0.49813	0.1579|0.1579	N|N	0.16368|0.16368	0.405|0.405	0.41103|0.41103	D|D	0.985683|0.985683	P;P;P|.	0.41624|.	0.757;0.757;0.757|.	B;B;B|.	0.30943|.	0.122;0.122;0.122|.	T|T	0.44159|0.44159	-0.9346|-0.9346	10|5	0.11485|.	T|.	0.65|.	-5.5053|-5.5053	16.1537|16.1537	0.81640|0.81640	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1472;1484;1477|.	A7E2V4;A7E2V4-3;A7E2V4-4|.	K0913_HUMAN;.;.|.	V|W	1477|747	ENSP00000381693:A1477V|.	ENSP00000381693:A1477V|.	A|R	+|+	2|1	0|2	KIAA0913|KIAA0913	75229019|75229019	0.984000|0.984000	0.35163|0.35163	0.737000|0.737000	0.30932|0.30932	0.889000|0.889000	0.51656|0.51656	3.025000|3.025000	0.49681|0.49681	2.681000|2.681000	0.91329|0.91329	0.643000|0.643000	0.83706|0.83706	GCG|CGG	ZSWIM8-027	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000468541.1		+	ENST00000604729.1	Missense_Mutation	SNP	10 : 75559013 - 75559013 T PAAD-TCGA-IB-AAUU-Tumor-SM-5PNOW	86	13
