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
ANAPC5	51433	broad.mit.edu	37	12	121746425	121746425	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:121746425C>T	ENST00000261819.3	-	17	2247	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ANAPC5_ENST00000344395.4_Missense_Mutation_p.R597H|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R597H|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R696H|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R375H|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	709					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTCCCTGATGCGCTCTTTGCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													159	138	145			NA	NA	12		NA											NA				121746425		2203	4300	6503	SO:0001583	missense			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053	51433	51433		Anaphase promoting complex subunits	15713	protein-coding gene	gene with protein product		606948			NA	9469815	Standard		NM_016237	NA	Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2126G>A	12.37:g.121746425C>T	ENSP00000261819:p.Arg709His	NA	Q8N4H7|Q9BQD4	37	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072176	0.76415	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.61	3.41	0.39046	Tetratricopeptide-like helical (1);	0.174381	0.52532	D	0.000074	T	0.68210	0.2976	L	0.43923	1.385	0.80722	D	1	P;P;P	0.51147	0.942;0.784;0.903	P;B;B	0.48089	0.566;0.34;0.433	T	0.66598	-0.5883	10	0.72032	D	0.01	.	5.2077	0.15299	0.0:0.3649:0.0:0.6351	.	375;597;709	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	H	597;696;709;375;311;597	ENSP00000415061:R597H;ENSP00000439875:R696H;ENSP00000261819:R709H;ENSP00000438754:R375H;ENSP00000343787:R597H	ENSP00000261819:R709H	R	-	2	0	ANAPC5	120230808	0.996000	0.38824	0.780000	0.31762	0.867000	0.49689	3.016000	0.49607	0.521000	0.28445	0.563000	0.77884	CGC	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402582.1		-	ENST00000261819.3	Missense_Mutation	SNP	12 : 121746425 - 121746425 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	791	7
ATP2B1	490	broad.mit.edu	37	12	89992937	89992937	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:89992937C>T	ENST00000428670.3	-	20	3764	c.3308G>A	c.(3307-3309)gGc>gAc	p.G1103D	ATP2B1_ENST00000348959.3_Missense_Mutation_p.G1067D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G1103D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G1103D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G846D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1103	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAAGATTTGGCCACGCCGCAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	122	128			NA	NA	12		NA											NA				89992937		2203	4300	6503	SO:0001583	missense			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	490	490	3.6.3.8	ATPases / P-type	814	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 1	108731			NA	1674727	Standard	NM_001682	NM_001682	NA	Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3308G>A	12.37:g.89992937C>T	ENSP00000392043:p.Gly1103Asp	NA	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	37	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.061150|4.061150	0.76074|0.76074	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.|D;D;D;D;D	.|0.87334	.|-2.24;-2.24;-2.24;-2.24;-2.24	5.99|5.99	5.08|5.08	0.68730|0.68730	.|.	.|0.048031	.|0.85682	.|D	.|0.000000	D|D	0.93341|0.93341	0.7877|0.7877	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.69078	.|0.934;0.997;0.997	.|P;D;D	.|0.75020	.|0.559;0.985;0.962	D|D	0.94171|0.94171	0.7423|0.7423	5|10	.|0.87932	.|D	.|0	-20.0772|-20.0772	17.1454|17.1454	0.86765|0.86765	0.0:0.8736:0.1264:0.0|0.0:0.8736:0.1264:0.0	.|.	.|1103;1103;1067	.|P20020-3;P20020-2;P20020-6	.|.;.;.	T|D	84|1103;1067;1103;1103;846	.|ENSP00000261173:G1103D;ENSP00000343599:G1067D;ENSP00000352054:G1103D;ENSP00000392043:G1103D;ENSP00000376869:G846D	.|ENSP00000261173:G1103D	A|G	-|-	1|2	0|0	ATP2B1|ATP2B1	88517068|88517068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	1.491000|1.491000	0.48482|0.48482	0.655000|0.655000	0.94253|0.94253	GCC|GGC	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406653.1		-	ENST00000428670.3	Missense_Mutation	SNP	12 : 89992937 - 89992937 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	559	6
BIRC6	57448	broad.mit.edu	37	2	32734896	32734896	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:32734896C>G	ENST00000421745.2	+	52	10206	c.10072C>G	c.(10072-10074)Ctg>Gtg	p.L3358V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3358					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACTGCTAATCTGCTGCAGAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(94;175 1509 16028 18060 45422)							NA				0													200	175	184			NA	NA	2		NA											NA				32734896		2203	4300	6503	SO:0001583	missense			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760	57448	57448		Baculoviral IAP repeat containing, Ubiquitin-conjugating enzymes E2	13516	protein-coding gene	gene with protein product	apollon	605638	baculoviral IAP repeat-containing 6		NA	10544019	Standard	NM_016252	NM_016252	NA	Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10072C>G	2.37:g.32734896C>G	ENSP00000393596:p.Leu3358Val	NA	Q9ULD1	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004666	0.35320	.	.	ENSG00000115760	ENST00000421745	T	0.79352	-1.26	5.67	2.9	0.33743	.	0.000000	0.64402	D	0.000003	T	0.81465	0.4828	L	0.43152	1.355	0.48762	D	0.999706	D	0.63880	0.993	D	0.70016	0.967	T	0.80134	-0.1509	10	0.66056	D	0.02	.	10.2512	0.43370	0.0:0.7978:0.0:0.2022	.	3358	Q9NR09	BIRC6_HUMAN	V	3358	ENSP00000393596:L3358V	ENSP00000393596:L3358V	L	+	1	2	BIRC6	32588400	1.000000	0.71417	0.603000	0.28903	0.460000	0.32559	3.334000	0.52097	0.416000	0.25844	0.585000	0.79938	CTG	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318769.3		+	ENST00000421745.2	Missense_Mutation	SNP	2 : 32734896 - 32734896 G PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	603	6
C1orf173	0	broad.mit.edu	37	1	75037940	75037940	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:75037940T>A	ENST00000326665.5	-	14	3672	c.3454A>T	c.(3454-3456)Aca>Tca	p.T1152S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN		1152	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAACCACTGTCTCTTTTAGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	71	70			NA	NA	1		NA											NA				75037940		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000326665.5:c.3454A>T	1.37:g.75037940T>A	ENSP00000322609:p.Thr1152Ser	NA	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625736	0.28889	.	.	ENSG00000178965	ENST00000326665	T	0.11712	2.75	4.83	-0.42	0.12336	.	.	.	.	.	T	0.01523	0.0049	N	0.22421	0.69	0.09310	N	1	B	0.21452	0.056	B	0.20955	0.032	T	0.48801	-0.9003	9	0.12766	T	0.61	-0.5703	5.6261	0.17482	0.0:0.3122:0.1374:0.5504	.	1152	Q5RHP9	CA173_HUMAN	S	1152	ENSP00000322609:T1152S	ENSP00000322609:T1152S	T	-	1	0	C1orf173	74810528	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.356000	0.20181	-0.357000	0.08175	0.459000	0.35465	ACA	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026516.1		-	ENST00000326665.5	Missense_Mutation	SNP	1 : 75037940 - 75037940 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	345	125
CAMTA1	23261	broad.mit.edu	37	1	7725038	7725038	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:7725038C>T	ENST00000303635.7	+	9	2638	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGACGGGGCGCGGGCCCCCTT	0.687		NA	T	WWTR1	epitheliod hemangioendothelioma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													67	83	78			NA	NA	1		NA											NA				7725038		2203	4297	6500	SO:0001583	missense			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735	23261	23261			18806	protein-coding gene	gene with protein product		611501			NA	11925432	Standard	NM_015215	NM_001195563	NA	Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2431C>T	1.37:g.7725038C>T	ENSP00000306522:p.Arg811Trp	NA	A7MBM4|Q5VUE1|Q6V701|Q8WYI3	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.566650	0.28003	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.23147	1.92;1.92	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	L	0.47716	1.5	0.32683	N	0.515231	D	0.89917	1.0	D	0.79784	0.993	T	0.52697	-0.8541	10	0.62326	D	0.03	-16.616	10.6616	0.45706	0.1539:0.714:0.1321:0.0	.	811	Q9Y6Y1	CMTA1_HUMAN	W	811	ENSP00000306522:R811W;ENSP00000402561:R811W	ENSP00000306522:R811W	R	+	1	2	CAMTA1	7647625	0.998000	0.40836	0.328000	0.25416	0.395000	0.30598	3.293000	0.51779	2.406000	0.81754	0.478000	0.44815	CGG	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000003588.3		+	ENST00000303635.7	Missense_Mutation	SNP	1 : 7725038 - 7725038 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	457	6
CBX8	57332	broad.mit.edu	37	17	77768564	77768564	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr17:77768564T>C	ENST00000269385.4	-	5	1157	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	347					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACTCTTCCTCCGGGTCCCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	53	50			NA	NA	17		NA											NA				77768564		2202	4299	6501	SO:0001583	missense			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570	57332	57332			15962	protein-coding gene	gene with protein product	polycomb 3, Pc class 3 homolog (Drosophila)		chromobox homolog 8 (Drosophila Pc class)		NA	10825164	Standard	NM_020649	NM_020649	NA	Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1040A>G	17.37:g.77768564T>C	ENSP00000269385:p.Glu347Gly	NA	Q96H39|Q9NR07	37	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	t	13.89	2.372411	0.42003	.	.	ENSG00000141570	ENST00000269385	T	0.52983	0.64	4.94	4.94	0.65067	.	0.340813	0.21090	U	0.080336	T	0.44746	0.1308	N	0.04508	-0.205	0.44295	D	0.997161	D	0.71674	0.998	D	0.72982	0.979	T	0.46925	-0.9156	10	0.20519	T	0.43	-25.0512	15.0139	0.71570	0.0:0.0:0.0:1.0	.	347	Q9HC52	CBX8_HUMAN	G	347	ENSP00000269385:E347G	ENSP00000269385:E347G	E	-	2	0	CBX8	75383159	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.252000	0.51461	2.011000	0.59026	0.434000	0.28630	GAG	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318011.1		-	ENST00000269385.4	Missense_Mutation	SNP	17 : 77768564 - 77768564 C PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	482	8
CRISP2	7180	broad.mit.edu	37	6	49667525	49667525	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:49667525C>T	ENST00000339139.4	-	6	499	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	88						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			actggttttgcggtcctctgG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	108	115			NA	NA	6		NA											NA				49667525		2202	4300	6502	SO:0001583	missense			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490	7180	7180			12024	protein-coding gene	gene with protein product	cancer/testis antigen 36	187430	testis specific protein 1 (probe H4-1 p3-1)	GAPDL5, TPX1	NA	2613236, 8665901	Standard	NM_003296	NM_003296	NA	Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.263G>A	6.37:g.49667525C>T	ENSP00000339155:p.Arg88His	NA		37	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831906	0.50845	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08370	3.1	5.02	4.15	0.48705	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	M	0.90650	3.135	0.24684	N	0.993341	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	T	0.11792	-1.0573	10	0.37606	T	0.19	.	9.7734	0.40603	0.0:0.906:0.0:0.094	.	88;88	Q7Z7B2;P16562	.;CRIS2_HUMAN	H	88	ENSP00000339155:R88H	ENSP00000211238:R88H	R	-	2	0	CRISP2	49775484	0.493000	0.26035	0.479000	0.27329	0.429000	0.31625	2.574000	0.46016	1.478000	0.48253	0.650000	0.86243	CGC	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040870.2		-	ENST00000339139.4	Missense_Mutation	SNP	6 : 49667525 - 49667525 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	228	5
CSNK1A1	1452	broad.mit.edu	37	5	148891409	148891409	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:148891409C>T	ENST00000261798.5	-	6	1055	c.623G>A	c.(622-624)gGa>gAa	p.G208E	CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.G208E|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	208	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CAAAACATATCCTAATGATTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(5;64 69 1309 10383)							NA				0													101	102	101			NA	NA	5		NA											NA				148891409		1963	4181	6144	SO:0001583	missense			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712	1452	1452			2451	protein-coding gene	gene with protein product	clock regulator kinase	600505			NA	8050587	Standard	NM_001892	NM_001025105	NA	Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000261798.5:c.623G>A	5.37:g.148891409C>T	ENSP00000261798:p.Gly208Glu	NA	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q96HD2|Q9UDK3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.211546|5.211546	0.95069|0.95069	.|.	.|.	ENSG00000113712|ENSG00000113712	ENST00000503350|ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	.|D;D;D;D;D	.|0.85013	.|-1.93;-1.93;-1.93;-1.93;-1.93	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.97037|0.97037	0.9032|0.9032	H|H	0.99979|0.99979	5.185|5.185	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.998;0.998;1.0;1.0;1.0;1.0	D|D	0.98939|0.98939	1.0790|1.0790	5|10	.|0.87932	.|D	.|0	.|.	19.8669|19.8669	0.96806|0.96806	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|147;147;208;208;236;119	.|B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.|.;.;.;KC1A_HUMAN;.;.	N|E	39|208;208;119;147;208;236	.|ENSP00000261798:G208E;ENSP00000367074:G208E;ENSP00000426747:G119E;ENSP00000427031:G147E;ENSP00000421689:G236E	.|ENSP00000261798:G208E	D|G	-|-	1|2	0|0	CSNK1A1|CSNK1A1	148871602|148871602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.750000|7.750000	0.85110|0.85110	2.704000|2.704000	0.92352|0.92352	0.573000|0.573000	0.79308|0.79308	GAT|GGA	CSNK1A1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000373582.1		-	ENST00000261798.5	Missense_Mutation	SNP	5 : 148891409 - 148891409 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	546	7
CSNK1A1	1452	broad.mit.edu	37	5	148891414	148891414	+	Silent	SNP	T	T	C			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:148891414T>C	ENST00000261798.5	-	6	1050	c.618A>G	c.(616-618)tcA>tcG	p.S206S	CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000504676.1_Silent_p.S117S|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000377843.2_Silent_p.S206S|CSNK1A1_ENST00000515435.1_Silent_p.S145S|CSNK1A1_ENST00000515768.1_Silent_p.S234S	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	206	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CATATCCTAATGATTCCATGT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(5;64 69 1309 10383)							NA				0													101	102	102			NA	NA	5		NA											NA				148891414		1958	4180	6138	SO:0001819	synonymous_variant			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712	1452	1452			2451	protein-coding gene	gene with protein product	clock regulator kinase	600505			NA	8050587	Standard	NM_001892	NM_001025105	NA	Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000261798.5:c.618A>G	5.37:g.148891414T>C		NA	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q96HD2|Q9UDK3	37		.	.	.	.	.	.	.	.	.	.	T	10.39	1.336486	0.24253	.	.	ENSG00000113712	ENST00000503350	.	.	.	5.72	1.51	0.23008	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54490	-0.8286	4	.	.	.	.	10.8543	0.46789	0.5605:0.0:0.0:0.4395	.	.	.	.	R	37	.	.	H	-	2	0	CSNK1A1	148871607	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.432000	0.21461	0.367000	0.24454	0.467000	0.42956	CAT	CSNK1A1-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000373582.1		-	ENST00000261798.5	Silent	SNP	5 : 148891414 - 148891414 C PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	544	7
DEPDC5	9681	broad.mit.edu	37	22	32211058	32211058	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr22:32211058G>A	ENST00000382112.3	+	20	1596	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	DEPDC5_ENST00000400246.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R481H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	509					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTACCAAGCCGCACACTGCCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4112		0,0,2056	86	88	87		1526,1526,1526,1526,1526	3.9	0.1	22		87	1,8415		0,1,4207	no	missense,missense,missense,missense,missense	DEPDC5	NM_001007188.2,NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	29,29,29,29,29	0,1,6263	AA,AG,GG	NA	0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	509/560,509/1595,509/1604,509/1504,509/1573	32211058	1,12527	2056	4208	6264	SO:0001583	missense			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150	9681	9681			18423	protein-coding gene	gene with protein product		614191			NA	23542697, 23542701	Standard	NM_014662	NM_001242896	NA	Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1526G>A	22.37:g.32211058G>A	ENSP00000371546:p.Arg509His	NA	A6H8V6|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846647	0.51164	0.0	1.19E-4	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.51071	1.43;1.42;0.72;1.81;1.8;1.79;1.39;1.8;1.79;1.8	6.01	3.93	0.45458	.	0.050574	0.85682	D	0.000000	T	0.59770	0.2218	L	0.57536	1.79	0.58432	D	0.999993	D;D;P;D;D;D	0.76494	0.999;0.975;0.547;0.999;0.999;0.992	P;P;B;P;P;P	0.62184	0.899;0.503;0.138;0.891;0.899;0.557	T	0.58885	-0.7557	10	0.44086	T	0.13	.	12.4786	0.55829	0.1353:0.0:0.8647:0.0	.	509;481;509;509;509;509	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	H	509;481;509;509;509;509;509;509;509;509;509	ENSP00000440210:R509H;ENSP00000441358:R481H;ENSP00000383101:R509H;ENSP00000266091:R509H;ENSP00000383108:R509H;ENSP00000383105:R509H;ENSP00000371539:R509H;ENSP00000371546:R509H;ENSP00000371545:R509H;ENSP00000383107:R509H	ENSP00000266091:R509H	R	+	2	0	DEPDC5	30541058	1.000000	0.71417	0.051000	0.19133	0.396000	0.30629	4.969000	0.63735	0.894000	0.36317	0.558000	0.71614	CGC	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000129087.1		+	ENST00000382112.3	Missense_Mutation	SNP	22 : 32211058 - 32211058 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	311	5
DNAH8	1769	broad.mit.edu	37	6	38820472	38820472	+	Silent	SNP	G	G	A	rs61757626		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:38820472G>A	ENST00000359357.3	+	38	5072	c.4818G>A	c.(4816-4818)ccG>ccA	p.P1606P	DNAH8_ENST00000449981.2_Silent_p.P1823P|DNAH8_ENST00000441566.1_Silent_p.P1606P					dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTACAGCCGCATCTCCCTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	6		NA											NA				38820472		2203	4300	6503	SO:0001819	synonymous_variant			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4818G>A	6.37:g.38820472G>A		NA		37																																																																																				DNAH8-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000043574.1		+	ENST00000359357.3	Silent	SNP	6 : 38820472 - 38820472 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	203	4
EGR4	1961	broad.mit.edu	37	2	73519782	73519782	+	Silent	SNP	A	A	G			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:73519782A>G	ENST00000436467.2	-	2	651	c.264T>C	c.(262-264)atT>atC	p.I88I	EGR4_ENST00000545030.1_Silent_p.I191I			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	87						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCACTGCCTGAATGAAGAAGC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	30	28			NA	NA	2		NA											NA				73519782		2203	4299	6502	SO:0001819	synonymous_variant				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625	1961	1961		Zinc fingers, C2H2-type	3241	protein-coding gene	gene with protein product		128992			NA	1584812	Standard	NM_001965	NM_001965	NA	Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000436467.2:c.264T>C	2.37:g.73519782A>G		NA		37																																																																																				EGR4-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000251990.4		-	ENST00000436467.2	Silent	SNP	2 : 73519782 - 73519782 G PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	56	20
F12	2161	broad.mit.edu	37	5	176829597	176829597	+	Missense_Mutation	SNP	C	C	T	rs17876034		TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:176829597C>T	ENST00000253496.3	-	13	1682	c.1634G>A	c.(1633-1635)gGc>gAc	p.G545D		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	545	Peptidase S1.		G -> D (in dbSNP:rs17876034).		Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GCAGAGCATGCCGGGGAGGAT	0.672		NA							Hereditary Angioedema					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	36	36	36		1634	3.6	0.7	5	dbSNP_124	36	0,8600		0,0,4300	no	missense	F12	NM_000505.3	94	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	545/616	176829597	1,13005	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	2161	2161	3.4.21.38		3530	protein-coding gene	gene with protein product		610619			NA		Standard		NM_000505	NA	Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1634G>A	5.37:g.176829597C>T	ENSP00000253496:p.Gly545Asp	NA	P78339	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333662	0.41297	2.27E-4	0.0	ENSG00000131187	ENST00000253496	T	0.59083	0.29	5.65	3.64	0.41730	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.159525	0.29745	N	0.011311	T	0.40522	0.1120	N	0.25245	0.725	0.25749	N	0.985076	P	0.43633	0.813	B	0.40134	0.32	T	0.20371	-1.0277	10	0.29301	T	0.29	.	10.1343	0.42697	0.0:0.7895:0.0:0.2105	rs17876034	545	P00748	FA12_HUMAN	D	545	ENSP00000253496:G545D	ENSP00000253496:G545D	G	-	2	0	F12	176762203	0.000000	0.05858	0.670000	0.29842	0.930000	0.56654	0.218000	0.17622	1.399000	0.46721	0.561000	0.74099	GGC	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373217.1		-	ENST00000253496.3	Missense_Mutation	SNP	5 : 176829597 - 176829597 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	167	4
FLNA	2316	broad.mit.edu	37	X	153594439	153594439	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chrX:153594439G>A	ENST00000344736.4	-	8	1424	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	FLNA_ENST00000369850.3_Missense_Mutation_p.A461V|FLNA_ENST00000422373.1_Missense_Mutation_p.A461V|FLNA_ENST00000360319.4_Missense_Mutation_p.A461V			P21333	FLNA_HUMAN	filamin A, alpha	461					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCACGCCGGCAAACGTGAC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	55	52			NA	NA	X		NA											NA				153594439		2155	4227	6382	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.1382C>T	X.37:g.153594439G>A	ENSP00000358863:p.Ala461Val	NA	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	G	7.166	0.586624	0.13749	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.96	4.06	0.47325	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.069730	0.53938	D	0.000041	D	0.89312	0.6679	M	0.93328	3.405	0.80722	D	1	B;B	0.29270	0.24;0.119	B;B	0.34452	0.087;0.183	D	0.88074	0.2802	10	0.87932	D	0	.	12.2745	0.54726	0.0:0.3195:0.6805:0.0	.	461;461	P21333-2;P21333	.;FLNA_HUMAN	V	461;434;461;461;461	ENSP00000353467:A461V;ENSP00000416926:A461V;ENSP00000358866:A461V;ENSP00000358863:A461V	ENSP00000358863:A461V	A	-	2	0	FLNA	153247633	1.000000	0.71417	0.028000	0.17463	0.073000	0.16967	4.756000	0.62205	0.815000	0.34398	0.540000	0.68198	GCC	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153594439 - 153594439 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	260	4
FMOD	2331	broad.mit.edu	37	1	203316552	203316552	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr1:203316552T>C	ENST00000354955.4	-	2	1310	c.847A>G	c.(847-849)Aat>Gat	p.N283D	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	283					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GCCAGGCCATTGTTGGTTAGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	141	143			NA	NA	1		NA											NA				203316552		2203	4300	6503	SO:0001583	missense			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176	2331	2331		Proteoglycans / Extracellular Matrix : Small leucine-rich repeats	3774	protein-coding gene	gene with protein product	fibromodulin proteoglycan	600245			NA	7851907	Standard	NM_002023	NM_002023	NA	Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.847A>G	1.37:g.203316552T>C	ENSP00000347041:p.Asn283Asp	NA	Q15331|Q8IV47	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	T	7.945	0.743682	0.15642	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04317	3.65	5.18	0.217	0.15264	.	0.688390	0.15290	N	0.270224	T	0.01976	0.0062	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48399	-0.9039	10	0.15499	T	0.54	-12.1511	4.9449	0.13984	0.0:0.3254:0.3087:0.3659	.	283	Q06828	FMOD_HUMAN	D	270;283	ENSP00000347041:N283D	ENSP00000347041:N283D	N	-	1	0	FMOD	201583175	0.014000	0.17966	0.225000	0.23894	0.923000	0.55619	0.792000	0.26929	0.004000	0.14682	-0.290000	0.09829	AAT	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000087472.1		-	ENST00000354955.4	Missense_Mutation	SNP	1 : 203316552 - 203316552 C PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	439	32
GPD1L	23171	broad.mit.edu	37	3	32201095	32201095	+	Silent	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr3:32201095G>A	ENST00000282541.5	+	7	1089	c.888G>A	c.(886-888)ggG>ggA	p.G296G		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	296					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						TGCTGAATGGGCAAAAGCTCC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	59	60			NA	NA	3		NA											NA				32201095		2203	4300	6503	SO:0001819	synonymous_variant			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642	23171	23171			28956	protein-coding gene	gene with protein product		611778			NA	7788527	Standard	NM_015141	NM_015141	NA	Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.888G>A	3.37:g.32201095G>A		NA	A8K9U3|Q14702|Q9BRM5	37	CCDS33729.1																																																																																			GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000341975.2		+	ENST00000282541.5	Silent	SNP	3 : 32201095 - 32201095 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	297	4
GRIN3B	116444	broad.mit.edu	37	19	1005484	1005484	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:1005484G>A	ENST00000234389.3	+	3	2003	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	662					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CAGCTACACGGCCAACCTGGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	19		NA											NA				1005484		2203	4300	6503	SO:0001583	missense				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032	116444	116444		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	16768	protein-coding gene	gene with protein product		606651			NA		Standard		XM_003403700	NA	Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1984G>A	19.37:g.1005484G>A	ENSP00000234389:p.Ala662Thr	NA	Q5EAK7|Q7RTW9	37	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555006	0.86231	.	.	ENSG00000116032	ENST00000234389	T	0.74315	-0.83	4.36	4.36	0.52297	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.91768	3.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91584	0.5281	10	0.87932	D	0	.	15.5149	0.75815	0.0:0.0:1.0:0.0	.	662	O60391	NMD3B_HUMAN	T	662	ENSP00000234389:A662T	ENSP00000234389:A662T	A	+	1	0	GRIN3B	956484	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	9.675000	0.98638	2.012000	0.59069	0.306000	0.20318	GCC	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103923.2		+	ENST00000234389.3	Missense_Mutation	SNP	19 : 1005484 - 1005484 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	154	4
MAML1	9794	broad.mit.edu	37	5	179192636	179192636	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr5:179192636C>T	ENST00000292599.3	+	2	888	c.625C>T	c.(625-627)Cct>Tct	p.P209S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	209					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGTCATTTCCTCTGAGCCT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	5		NA											NA				179192636		2203	4300	6503	SO:0001583	missense			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021	9794	9794			13632	protein-coding gene	gene with protein product	mastermind homolog	605424	mastermind (drosophila)-like 1		NA	11101851, 11390662	Standard	NM_014757	NM_014757	NA	Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.625C>T	5.37:g.179192636C>T	ENSP00000292599:p.Pro209Ser	NA	Q9NZ12	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	2.237	-0.374809	0.05034	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.41065	1.01	4.9	-2.85	0.05734	.	0.748097	0.12499	N	0.463489	T	0.21267	0.0512	N	0.17082	0.46	0.09310	N	1	B;B	0.24483	0.104;0.021	B;B	0.27887	0.084;0.012	T	0.34650	-0.9820	10	0.07030	T	0.85	-0.2222	10.5807	0.45255	0.1074:0.1897:0.6345:0.0684	.	246;209	Q59GH4;Q92585	.;MAML1_HUMAN	S	209;246	ENSP00000292599:P209S	ENSP00000292599:P209S	P	+	1	0	MAML1	179125242	0.894000	0.30519	0.183000	0.23137	0.961000	0.63080	0.063000	0.14410	-0.556000	0.06134	-0.519000	0.04390	CCT	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372316.2		+	ENST00000292599.3	Missense_Mutation	SNP	5 : 179192636 - 179192636 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	280	7
NOP9	161424	broad.mit.edu	37	14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	NM_174913.1	NP_777573.1			NOP9 nucleolar protein	NA											NA						GTTTTACACCGCAAACTTCCC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	156	155			NA	NA	14		NA											NA				24771231		2203	4300	6503	SO:0001583	missense				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943	161424	161424			19826	protein-coding gene	gene with protein product			chromosome 14 open reading frame 21, NOP9 nucleolar protein homolog (yeast)	C14orf21	NA	21653694	Standard		XM_005267385	NA	Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His	NA		37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000073186.2		+	ENST00000267425.3	Missense_Mutation	SNP	14 : 24771231 - 24771231 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	748	7
SCN1A	6323	broad.mit.edu	37	2	166894518	166894518	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr2:166894518G>A	ENST00000409050.1	-	15	2629	c.2630C>T	c.(2629-2631)gCc>gTc	p.A877V	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.A905V|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A905V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A894V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	905						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCCGACCACGGCAAAAATGAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	113	115			NA	NA	2		NA											NA				166894518		2203	4300	6503	SO:0001583	missense			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.2630C>T	2.37:g.166894518G>A	ENSP00000386312:p.Ala877Val	NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377262	0.95945	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99348	0.9771	H	0.95950	3.745	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.966	D;D;P	0.83275	0.994;0.996;0.838	D	0.98648	1.0678	10	0.87932	D	0	.	18.8132	0.92065	0.0:0.0:1.0:0.0	.	894;877;905	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	905;905;894;877	ENSP00000407030:A905V;ENSP00000303540:A905V;ENSP00000364554:A894V;ENSP00000386312:A877V	ENSP00000303540:A905V	A	-	2	0	SCN1A	166602764	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	9.748000	0.98867	2.525000	0.85131	0.591000	0.81541	GCC	SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1		-	ENST00000409050.1	Missense_Mutation	SNP	2 : 166894518 - 166894518 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	398	5
SLC18A3	6572	broad.mit.edu	37	10	50819229	50819229	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr10:50819229G>A	ENST00000374115.3	+	1	883	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	148					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						TTCATCGACCGCATGAGCTAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	89			NA	NA	10		NA											NA				50819229		2203	4300	6503	SO:0001583	missense			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.443G>A	10.37:g.50819229G>A	ENSP00000363229:p.Arg148His	NA	B2R7S1	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826104	0.90955	.	.	ENSG00000187714	ENST00000374115	T	0.65549	-0.16	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.83982	0.5372	M	0.93678	3.445	0.58432	D	0.999993	D	0.64830	0.994	D	0.66847	0.947	D	0.88998	0.3419	10	0.87932	D	0	-4.4522	17.8543	0.88758	0.0:0.0:1.0:0.0	.	148	Q16572	VACHT_HUMAN	H	148	ENSP00000363229:R148H	ENSP00000363229:R148H	R	+	2	0	SLC18A3	50489235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.464000	0.97655	2.203000	0.70933	0.561000	0.74099	CGC	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047995.1		+	ENST00000374115.3	Missense_Mutation	SNP	10 : 50819229 - 50819229 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	432	6
SPATA31A6	389730	broad.mit.edu	37	9	43627785	43627785	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:43627785G>T	ENST00000332857.6	-	4	930	c.902C>A	c.(901-903)cCt>cAt	p.P301H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6	NA											NA						GCGGGAAAGAGGATCTTGCTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													3	3	3			NA	NA	9		NA											NA				43627785		555	1419	1974	SO:0001583	missense				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775	389730	389730			32006	protein-coding gene	gene with protein product			family with sequence similarity 75, member A6	FAM75A6	NA	20850414	Standard	NM_001145196	NM_001145196	NA	Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.902C>A	9.37:g.43627785G>T	ENSP00000329825:p.Pro301His	NA		37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.100181	0.00360	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	1.85	1.85	0.25348	.	1.257310	0.05490	N	0.556480	T	0.01353	0.0044	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.14252	T	0.57	-0.9104	4.8878	0.13712	0.0:0.0:0.323:0.677	.	301	Q5VVP1	F75A6_HUMAN	H	301	ENSP00000329825:P301H	ENSP00000329825:P301H	P	-	2	0	FAM75A6	43567781	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-0.173000	0.09854	0.179000	0.19938	-0.930000	0.02707	CCT	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000036987.1		-	ENST00000332857.6	Missense_Mutation	SNP	9 : 43627785 - 43627785 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	1928	11
SRGAP1	57522	broad.mit.edu	37	12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr12:64502748G>A	ENST00000355086.3	+	16	2374	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	617	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	150	131	137		1850	4.3	1	12		137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRGAP1	NM_020762.2	29	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	617/1086	64502748	2,13004	2203	4300	6503	SO:0001583	missense			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935	57522	57522		Rho GTPase activating proteins	17382	protein-coding gene	gene with protein product		606523			NA	11672528	Standard		NM_020762	NA	Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1850G>A	12.37:g.64502748G>A	ENSP00000347198:p.Arg617His	NA	Q9H8A3|Q9P2P2	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089520	0.94149	0.0	2.33E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.216473	0.22557	N	0.058512	T	0.39436	0.1078	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.74023	0.982;0.119	T	0.10613	-1.0622	9	.	.	.	.	14.9023	0.70689	0.0708:0.0:0.9292:0.0	.	617;554	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	617;594;554	ENSP00000347198:R617H;ENSP00000350480:R594H;ENSP00000437948:R554H	.	R	+	2	0	SRGAP1	62789015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.722000	0.61958	1.496000	0.48567	0.650000	0.86243	CGC	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400896.1		+	ENST00000355086.3	Missense_Mutation	SNP	12 : 64502748 - 64502748 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	641	6
TMEM181	57583	broad.mit.edu	37	6	159050843	159050843	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr6:159050843C>T	ENST00000367090.3	+	15	1696	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	562					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCGAAGAATGCCCTCTATGGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	132	133			NA	NA	6		NA											NA				159050843		1932	4125	6057	SO:0001583	missense			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433	57583	57583			20958	protein-coding gene	gene with protein product		613209	G protein-coupled receptor 178, KIAA1423	KIAA1423, GPR178	NA	16452613	Standard	NM_020823	NM_020823	NA	Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1685C>T	6.37:g.159050843C>T	ENSP00000356057:p.Ala562Val	NA	Q5VTU1	37	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	36	5.630914	0.96682	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	6.17	6.17	0.99709	.	0.045522	0.85682	D	0.000000	T	0.45975	0.1369	L	0.34521	1.04	0.58432	D	0.999998	P	0.51351	0.944	P	0.46110	0.504	T	0.30937	-0.9961	9	0.35671	T	0.21	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	562	Q9P2C4	TM181_HUMAN	V	469;562	.	ENSP00000323755:A469V	A	+	2	0	TMEM181	158970831	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	7.681000	0.84073	2.941000	0.99782	0.655000	0.94253	GCC	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042873.1		+	ENST00000367090.3	Missense_Mutation	SNP	6 : 159050843 - 159050843 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	224	4
UBAP2	55833	broad.mit.edu	37	9	33989115	33989115	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr9:33989115C>T	ENST00000379238.1	-	5	415	c.298G>A	c.(298-300)Gag>Aag	p.E100K	UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.E100K|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.E100K|UBAP2_ENST00000360802.1_Missense_Mutation_p.E100K			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	100										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTACAGTCTCCCATGAAGTC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	57	58			NA	NA	9		NA											NA				33989115		2203	4300	6503	SO:0001583	missense			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073	55833	55833			14185	protein-coding gene	gene with protein product					NA	8871400	Standard	NM_018449	NM_018449	NA	Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.298G>A	9.37:g.33989115C>T	ENSP00000368540:p.Glu100Lys	NA	Q2M2R4|Q6PK34|Q8NC94|Q9P237	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853073	0.91355	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.18	5.18	0.71444	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.76494	0.964;0.999;0.998;0.998;0.998	D;D;D;D;D	0.81914	0.946;0.995;0.994;0.989;0.989	T	0.65660	-0.6114	10	0.87932	D	0	-6.7904	18.7036	0.91630	0.0:1.0:0.0:0.0	.	100;25;62;25;100	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	K	100;100;100;62;40;100;100;100	ENSP00000368540:E100K;ENSP00000416932:E100K;ENSP00000354039:E100K;ENSP00000404436:E100K;ENSP00000414800:E100K	ENSP00000259602:E100K	E	-	1	0	UBAP2	33979115	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.100000	0.76989	2.398000	0.81561	0.650000	0.86243	GAG	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001071.1		-	ENST00000379238.1	Missense_Mutation	SNP	9 : 33989115 - 33989115 T PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	459	251
VRK3	51231	broad.mit.edu	37	19	50519379	50519379	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:50519379G>A	ENST00000599538.1	-	3	705	c.41C>T	c.(40-42)gCg>gTg	p.A14V	VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V|VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V|VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	14						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTTGAATGCCGCTTGGATACT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)							NA				0													108	104	105			NA	NA	19		NA											NA				50519379		2203	4300	6503	SO:0001583	missense			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053	51231	51231			18996	protein-coding gene	gene with protein product					NA		Standard	NM_016440	XM_005258971	NA	Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.41C>T	19.37:g.50519379G>A	ENSP00000469880:p.Ala14Val	NA	A8KA53|Q502Y2|Q9P2V8	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	3.416	-0.119082	0.06838	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.25912	1.77;1.79	4.52	2.36	0.29203	.	0.598744	0.17197	N	0.183287	T	0.14570	0.0352	L	0.52759	1.655	0.09310	N	1	P;B;B;B;B	0.38300	0.626;0.054;0.027;0.066;0.066	B;B;B;B;B	0.27170	0.077;0.011;0.02;0.019;0.019	T	0.13953	-1.0490	10	0.11485	T	0.65	-0.861	5.109	0.14800	0.1072:0.0:0.6879:0.2049	.	14;14;14;14;14	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	V	14	ENSP00000324636:A14V;ENSP00000366210:A14V	ENSP00000324636:A14V	A	-	2	0	VRK3	55211191	0.004000	0.15560	0.007000	0.13788	0.166000	0.22503	0.811000	0.27198	0.802000	0.34089	0.650000	0.86243	GCG	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464815.1		-	ENST00000599538.1	Missense_Mutation	SNP	19 : 50519379 - 50519379 A PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	310	6
ZNF567	163081	broad.mit.edu	37	19	37210852	37210852	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IL-01A-11D-A38G-08	TCGA-3A-A9IL-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	a334957f-106e-4965-a078-651645a88240	23976f5b-528d-446d-918c-2021c7f94396	g.chr19:37210852C>G	ENST00000585696.1	+	3	2363	c.1133C>G	c.(1132-1134)aCt>aGt	p.T378S	ZNF567_ENST00000536254.2_Missense_Mutation_p.T409S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.T378S|ZNF567_ENST00000360729.4_Missense_Mutation_p.T378S|ZNF567_ENST00000588311.1_Missense_Mutation_p.T378S			Q8N184	ZN567_HUMAN	zinc finger protein 567	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCAAATCTTACTGTACATCAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	62	61			NA	NA	19		NA											NA				37210852		2203	4300	6503	SO:0001583	missense			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042	163081	163081		Zinc fingers, C2H2-type, -	28696	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152603	XM_006723064	NA	Approved	MGC45586	uc002oep.4	Q8N184		ENST00000585696.1:c.1133C>G	19.37:g.37210852C>G	ENSP00000467379:p.Thr378Ser	NA	B3KX49|Q6N044	37	CCDS12495.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351393	0.41700	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.35973	1.28;1.28;1.28	5.18	2.96	0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000449	T	0.18551	0.0445	N	0.17594	0.5	0.22591	N	0.99896	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.004	T	0.09952	-1.0651	10	0.27785	T	0.31	.	5.3548	0.16055	0.1608:0.6658:0.0:0.1734	.	409;378	Q8N184;F8WEL6	ZN567_HUMAN;.	S	409;353;378;408;378	ENSP00000441838:T409S;ENSP00000353957:T378S;ENSP00000376003:T378S	ENSP00000353957:T378S	T	+	2	0	ZNF567	41902692	0.000000	0.05858	0.999000	0.59377	0.987000	0.75469	-1.558000	0.02164	1.387000	0.46486	0.561000	0.74099	ACT	ZNF567-004	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453553.1		+	ENST00000585696.1	Missense_Mutation	SNP	19 : 37210852 - 37210852 G PAAD-TCGA-3A-A9IL-Tumor-SM-5W7VB	416	85
