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
ADAMTS10	81794	broad.mit.edu	37	19	8660766	8660766	+	Silent	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:8660766C>G	ENST00000597188.1	-	12	1629	c.1359G>C	c.(1357-1359)ctG>ctC	p.L453L	ADAMTS10_ENST00000270328.4_Silent_p.L453L	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	453	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCGGTTGTTCAGGCAGAGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	102	101			NA	NA	19		NA											NA				8660766		2203	4300	6503	SO:0001819	synonymous_variant			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303	81794	81794		ADAM metallopeptidases with thrombospondin type 1 motif	13201	protein-coding gene	gene with protein product		608990	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10		NA		Standard	NM_030957	XM_005272499	NA	Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1359G>C	19.37:g.8660766C>G		NA		37	CCDS12206.1																																																																																			ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460085.3		-	ENST00000597188.1	Silent	SNP	19 : 8660766 - 8660766 G PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	948	15
ANKMY2	57037	broad.mit.edu	37	7	16655415	16655415	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:16655415C>A	ENST00000306999.2	-	5	728	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	162						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTGCAGCGGGCCTGCCAACTT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	97	98			NA	NA	7		NA											NA				16655415		2203	4300	6503	SO:0001583	missense			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524	57037	57037		Zinc fingers, MYND-type, Ankyrin repeat domain containing	25370	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_020319	NM_020319	NA	Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.485G>T	7.37:g.16655415C>A	ENSP00000303570:p.Gly162Val	NA	A4D124|Q659G1|Q96BL3	37	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633032	0.67015	.	.	ENSG00000106524	ENST00000306999	T	0.71341	-0.56	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.65975	2.015	0.80722	D	1	P	0.35745	0.518	B	0.26770	0.073	T	0.69423	-0.5149	10	0.42905	T	0.14	-30.5635	20.2886	0.98538	0.0:1.0:0.0:0.0	.	162	Q8IV38	ANKY2_HUMAN	V	162	ENSP00000303570:G162V	ENSP00000303570:G162V	G	-	2	0	ANKMY2	16621940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.670000	0.68088	2.882000	0.98803	0.655000	0.94253	GGC	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207600.2		-	ENST00000306999.2	Missense_Mutation	SNP	7 : 16655415 - 16655415 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	312	26
ARHGAP11A	9824	broad.mit.edu	37	15	32928116	32928116	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:32928116G>A	ENST00000543522.1	+	12	1505	c.916G>A	c.(916-918)Ggt>Agt	p.G306S	ARHGAP11A_ENST00000361627.3_Splice_Site_p.G495S|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.G495S|ARHGAP11A_ENST00000565905.1_Splice_Site_p.G306S|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.G467S			Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	495					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G495C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-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)		ACCAAAGAAAGGTACATTTAC	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(45;757 1134 30003 36652)							NA				1	Substitution - Missense(1)	lung(1)											68	67	68			NA	NA	15		NA											NA				32928116		2201	4298	6499	SO:0001630	splice_region_variant			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826	9824	9824		Rho GTPase activating proteins	15783	protein-coding gene	gene with protein product	GAP (1-12)	610589			NA	11829490	Standard	NM_014783	NM_199357	NA	Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000543522.1:c.916+1G>A	15.37:g.32928116G>A		NA	Q6PI96|Q9Y3S6	37		.	.	.	.	.	.	.	.	.	.	.	25.3	4.620084	0.87460	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.13089	2.62	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000012	T	0.39358	0.1075	M	0.76002	2.32	0.80722	D	1	P;D	0.71674	0.953;0.998	P;D	0.68943	0.473;0.961	T	0.01757	-1.1280	10	0.48119	T	0.1	.	18.8203	0.92094	0.0:0.0:1.0:0.0	.	495;306	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	S	495;306	ENSP00000355090:G495S	ENSP00000355090:G495S	G	+	1	0	ARHGAP11A	30715408	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.042000	0.64202	2.880000	0.98712	0.650000	0.86243	GGT	ARHGAP11A-005	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000429865.1	Missense_Mutation	+	ENST00000543522.1	Splice_Site	SNP	15 : 32928116 - 32928116 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	233	6
ATL3	25923	broad.mit.edu	37	11	63398868	63398868	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:63398868G>C	ENST00000538786.1	-	12	1410	c.1129C>G	c.(1129-1131)Ctg>Gtg	p.L377V	ATL3_ENST00000398868.3_Missense_Mutation_p.L395V|ATL3_ENST00000332645.4_Missense_Mutation_p.L422V			Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	395					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AAATGGTCCAGAGCAAGTTGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	105	109			NA	NA	11		NA											NA				63398868		1850	4099	5949	SO:0001583	missense				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743	25923	25923			24526	protein-coding gene	gene with protein product		609369			NA	18270207	Standard	NM_015459	XM_005273891	NA	Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000538786.1:c.1129C>G	11.37:g.63398868G>C	ENSP00000437593:p.Leu377Val	NA	Q8N7W5|Q9H8Q5|Q9UFL1	37		.	.	.	.	.	.	.	.	.	.	G	7.325	0.617751	0.14129	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.01821	4.62;4.62;4.62	5.41	2.14	0.27477	Guanylate-binding protein, C-terminal (3);	0.205916	0.42682	D	0.000665	T	0.01156	0.0038	N	0.16656	0.425	0.44036	D	0.996766	B	0.06786	0.001	B	0.22880	0.042	T	0.54323	-0.8311	10	0.14656	T	0.56	-9.5352	5.3927	0.16253	0.0828:0.1393:0.6348:0.143	.	395	Q6DD88	ATLA3_HUMAN	V	395;422;377	ENSP00000381844:L395V;ENSP00000329034:L422V;ENSP00000437593:L377V	ENSP00000329034:L422V	L	-	1	2	ATL3	63155444	0.006000	0.16342	1.000000	0.80357	0.961000	0.63080	0.057000	0.14279	1.273000	0.44346	0.655000	0.94253	CTG	ATL3-002	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000396639.1		-	ENST00000538786.1	Missense_Mutation	SNP	11 : 63398868 - 63398868 C PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	453	9
BACH2	60468	broad.mit.edu	37	6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:90660239G>A	ENST00000257749.4	-	7	2293	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	BACH2_ENST00000343122.3_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	529						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGTCCTCCGCGTAGGAATA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	58	57			NA	NA	6		NA											NA				90660239		2203	4300	6503	SO:0001583	missense			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182	60468	60468		BTB/POZ domain containing, basic leucine zipper proteins	14078	protein-coding gene	gene with protein product		605394			NA	10949928, 12829606	Standard	NM_021813	NM_001170794	NA	Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1586C>T	6.37:g.90660239G>A	ENSP00000257749:p.Ala529Val	NA	E1P518|Q59H70|Q5T793|Q9NTS5	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288626	0.80914	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.45276	0.9;0.9;0.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	N	0.19112	0.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.51309	-0.8722	10	0.59425	D	0.04	-6.4783	18.7377	0.91761	0.0:0.0:1.0:0.0	.	529	Q9BYV9	BACH2_HUMAN	V	529	ENSP00000257749:A529V;ENSP00000437473:A529V;ENSP00000345642:A529V	ENSP00000257749:A529V	A	-	2	0	BACH2	90716960	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	9.230000	0.95299	2.435000	0.82474	0.460000	0.39030	GCG	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041522.2		-	ENST00000257749.4	Missense_Mutation	SNP	6 : 90660239 - 90660239 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	535	27
BCKDHA	593	broad.mit.edu	37	19	41928149	41928149	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:41928149G>A	ENST00000269980.2	+	6	1095	c.727G>A	c.(727-729)Gag>Aag	p.E243K	BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	243					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGCAGCCAGTGAGGGGGACGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	63	66			NA	NA	19		NA											NA				41928149		2203	4300	6503	SO:0001583	missense			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098	593	593			986	protein-coding gene	gene with protein product	maple syrup urine disease	608348	branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease), 2-oxoisovalerate dehydrogenase (lipoamide)	OVD1A	NA		Standard	NM_000709	NM_000709	NA	Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.727G>A	19.37:g.41928149G>A	ENSP00000269980:p.Glu243Lys	NA	Q16034|Q16472	37	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	G	36	5.651384	0.96714	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	4.71	4.71	0.59529	Dehydrogenase, E1 component (1);	0.104998	0.64402	D	0.000006	D	0.98115	0.9378	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;0.999;1.0	D;P;D;D	0.74674	0.984;0.893;0.981;0.967	D	0.99066	1.0832	10	0.87932	D	0	-44.8836	16.5958	0.84796	0.0:0.0:1.0:0.0	.	221;243;243;277	B4DP47;Q59EI3;P12694;F5H5P2	.;.;ODBA_HUMAN;.	K	277;243;214;221;243	ENSP00000443246:E277K;ENSP00000269980:E243K;ENSP00000440345:E214K;ENSP00000416000:E221K	ENSP00000269980:E243K	E	+	1	0	BCKDHA;CTC-435M10.3	46619989	1.000000	0.71417	0.992000	0.48379	0.746000	0.42486	8.783000	0.91813	2.450000	0.82876	0.655000	0.94253	GAG	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398313.3		+	ENST00000269980.2	Missense_Mutation	SNP	19 : 41928149 - 41928149 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	429	8
BEND5	79656	broad.mit.edu	37	1	49208355	49208355	+	Silent	SNP	C	C	T	rs143430976		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:49208355C>T	ENST00000371833.3	-	4	920	c.834G>A	c.(832-834)acG>acA	p.T278T	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	278										large_intestine(5)|lung(2)|skin(1)	8						AATAGGACGACGTATTTGCTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	135	124	127		834,	4.5	1	1	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous,intron	BEND5,AGBL4	NM_024603.2,NM_032785.3	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	278/422,	49208355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373	79656	79656		BEN domain containing	25668	protein-coding gene	gene with protein product			chromosome 1 open reading frame 165	C1orf165	NA	12477932	Standard	NM_024603	NM_024603	NA	Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.834G>A	1.37:g.49208355C>T		NA	D3DQ27|Q96A62|Q9HAI3	37	CCDS552.2																																																																																			BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022323.1		-	ENST00000371833.3	Silent	SNP	1 : 49208355 - 49208355 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	567	19
C2orf71	388939	broad.mit.edu	37	2	29296606	29296606	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:29296606C>T	ENST00000331664.5	-	1	521	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	174					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCGGGAAGTCCACTTTGCCTT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	127	127			NA	NA	2		NA											NA				29296606		2088	4207	6295	SO:0001819	synonymous_variant				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270	388939	388939			34383	protein-coding gene	gene with protein product		613425			NA	20398886	Standard	NM_001029883	NM_001029883	NA	Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.522G>A	2.37:g.29296606C>T		NA		37	CCDS42669.1																																																																																			C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324924.3		-	ENST00000331664.5	Silent	SNP	2 : 29296606 - 29296606 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	498	16
CACNA1I	8911	broad.mit.edu	37	22	40061961	40061961	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr22:40061961G>A	ENST00000402142.3	+	23	4054	c.4054G>A	c.(4054-4056)Gcc>Acc	p.A1352T	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A1358T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1352					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTGCATGGCCGCCAACTACCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	112	109			NA	NA	22		NA											NA				40061961		2150	4239	6389	SO:0001583	missense			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346	8911	8911		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1396	protein-coding gene	gene with protein product		608230			NA	10454147, 16382099	Standard	NM_001003406	NM_021096	NA	Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4054G>A	22.37:g.40061961G>A	ENSP00000385019:p.Ala1352Thr	NA	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371351	0.95923	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	N	0.25144	0.715	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	D	0.99870	1.1095	10	0.72032	D	0.01	.	16.7468	0.85474	0.0:0.0:1.0:0.0	.	1317;1352;1317;1352	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	T	1352;1317;1352;1317;1358;1317	ENSP00000385019:A1352T;ENSP00000384093:A1317T;ENSP00000383887:A1352T;ENSP00000385680:A1317T;ENSP00000337829:A1358T;ENSP00000383028:A1317T	ENSP00000337829:A1358T	A	+	1	0	CACNA1I	38391907	1.000000	0.71417	0.942000	0.38095	0.990000	0.78478	9.749000	0.98871	1.915000	0.55452	0.462000	0.41574	GCC	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321290.1		+	ENST00000402142.3	Missense_Mutation	SNP	22 : 40061961 - 40061961 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	413	20
CACNG5	27091	broad.mit.edu	37	17	64881142	64881142	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:64881142A>G	ENST00000533854.1	+	6	850	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	205				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAAGCGGTACACCGCGGAGGA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	69	73			NA	NA	17		NA											NA				64881142		2203	4300	6503	SO:0001583	missense			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429	27091	27091		Calcium channel subunits	1409	protein-coding gene	gene with protein product		606405			NA	10613843	Standard	NM_014404, NM_145811	NM_145811	NA	Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.613A>G	17.37:g.64881142A>G	ENSP00000436836:p.Thr205Ala	NA	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	37	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	A	3.029	-0.200130	0.06219	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.42900	0.96;0.96	3.42	3.42	0.39159	.	.	.	.	.	T	0.14743	0.0356	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13602	-1.0503	9	0.06099	T	0.92	.	7.1109	0.25390	0.8954:0.0:0.1046:0.0	.	205	Q9UF02	CCG5_HUMAN	A	205	ENSP00000436836:T205A;ENSP00000303092:T205A	ENSP00000303092:T205A	T	+	1	0	CACNG5	62311604	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	4.519000	0.60517	1.815000	0.52974	0.491000	0.48974	ACC	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389882.1		+	ENST00000533854.1	Missense_Mutation	SNP	17 : 64881142 - 64881142 G PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	321	7
CASS4	57091	broad.mit.edu	37	20	55033728	55033728	+	Silent	SNP	C	C	T	rs112583744		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:55033728C>T	ENST00000360314.3	+	7	2511	c.2286C>T	c.(2284-2286)gcC>gcT	p.A762A	CASS4_ENST00000434344.1_Silent_p.A325A|CASS4_ENST00000371336.3_Silent_p.A762A	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	762					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCAGCCCTGCCGCGCTGGGGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	36	38			NA	NA	20		NA											NA				55033728		2203	4300	6503	SO:0001819	synonymous_variant			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589	57091	57091		Cas scaffolding proteins	15878	protein-coding gene	gene with protein product	HEF-like protein, HEF1-Efs-p130Cas-like		chromosome 20 open reading frame 32	C20orf32	NA		Standard	NM_020356	NM_020356	NA	Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2286C>T	20.37:g.55033728C>T		NA	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	37	CCDS33492.1																																																																																			CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079789.2		+	ENST00000360314.3	Silent	SNP	20 : 55033728 - 55033728 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	171	7
CD5L	922	broad.mit.edu	37	1	157805907	157805907	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:157805907G>A	ENST00000368174.4	-	3	190	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTTCACAGCGGTGGAGGCCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	43	42			NA	NA	1		NA											NA				157805907		2203	4300	6503	SO:0001583	missense			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754	922	922			1690	protein-coding gene	gene with protein product		602592	apoptosis inhibitor 6, CD5 antigen-like (scavenger receptor cysteine rich family)	API6	NA	9045627	Standard	NM_005894	NM_005894	NA	Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.94C>T	1.37:g.157805907G>A	ENSP00000357156:p.Arg32Cys	NA	A8K7M5|Q6UX63	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823367	0.50739	.	.	ENSG00000073754	ENST00000368174	T	0.37058	1.22	4.85	2.81	0.32909	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.150671	0.31312	N	0.007862	T	0.56396	0.1982	M	0.92219	3.285	0.35417	D	0.792925	D	0.89917	1.0	D	0.72075	0.976	T	0.68096	-0.5499	10	0.62326	D	0.03	.	11.5219	0.50555	0.0:0.0:0.6787:0.3213	.	32	O43866	CD5L_HUMAN	C	32	ENSP00000357156:R32C	ENSP00000357156:R32C	R	-	1	0	CD5L	156072531	0.000000	0.05858	0.555000	0.28281	0.326000	0.28443	-0.366000	0.07563	1.198000	0.43158	0.563000	0.77884	CGC	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058346.1		-	ENST00000368174.4	Missense_Mutation	SNP	1 : 157805907 - 157805907 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	835	35
CDH22	64405	broad.mit.edu	37	20	44856262	44856262	+	Silent	SNP	C	C	T	rs148516074		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:44856262C>T	ENST00000372262.3	-	3	955	c.555G>A	c.(553-555)acG>acA	p.T185T	CDH22_ENST00000537909.1_Silent_p.T185T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	185	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCATCACCGACGTGCCTGGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4403	2.1+/-5.4	0,1,2201	33	28	30		555	0.6	1	20	dbSNP_134	30	0,8598		0,0,4299	no	coding-synonymous	CDH22	NM_021248.1		0,1,6500	TT,TC,CC	NA	0.0,0.0227,0.0077		185/829	44856262	1,13001	2202	4299	6501	SO:0001819	synonymous_variant			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654	64405	64405		Cadherins / Major cadherins	13251	protein-coding gene	gene with protein product		609920	cadherin-like 22	C20orf25	NA	8626716	Standard	NM_021248	NM_021248	NA	Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.555G>A	20.37:g.44856262C>T		NA	B9EGK7|O43205	37	CCDS13395.1																																																																																			CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080491.1		-	ENST00000372262.3	Silent	SNP	20 : 44856262 - 44856262 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	149	9
CEP250	11190	broad.mit.edu	37	20	34090746	34090746	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:34090746C>T	ENST00000397527.1	+	30	5269	c.4549C>T	c.(4549-4551)Cgg>Tgg	p.R1517W	CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1517	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	20		NA											NA				34090746		2203	4300	6503	SO:0001583	missense			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001	11190	11190			1859	protein-coding gene	gene with protein product		609689	centrosomal protein 2	CEP2	NA	9506584, 9647649	Standard	NM_007186	NM_007186	NA	Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4549C>T	20.37:g.34090746C>T	ENSP00000380661:p.Arg1517Trp	NA	E1P5Q3|O14812|O60588|Q9H450	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012870	0.54468	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.50001	2.74;2.74;0.76	4.63	4.63	0.57726	.	0.701912	0.12939	N	0.426736	T	0.66906	0.2837	M	0.81497	2.545	0.09310	N	1	D	0.71674	0.998	P	0.56916	0.809	T	0.61544	-0.7041	10	0.72032	D	0.01	.	16.2304	0.82332	0.0:1.0:0.0:0.0	.	1517	Q9BV73	CP250_HUMAN	W	1517;1461;5	ENSP00000380661:R1517W;ENSP00000341541:R1461W;ENSP00000395992:R5W	ENSP00000341541:R1461W	R	+	1	2	CEP250	33554160	0.001000	0.12720	0.463000	0.27130	0.698000	0.40448	1.499000	0.35671	2.420000	0.82092	0.561000	0.74099	CGG	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078877.7		+	ENST00000397527.1	Missense_Mutation	SNP	20 : 34090746 - 34090746 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	390	14
DLGAP2	9228	broad.mit.edu	37	8	1626396	1626396	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:1626396C>T	ENST00000421627.2	+	9	2199	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	768					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGTTTTAAACGTTCTAACAG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	54	52			NA	NA	8		NA											NA				1626396		2077	4195	6272	SO:0001583	missense			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010	9228	9228			2906	protein-coding gene	gene with protein product		605438	discs, large (Drosophila) homolog-associated protein 2		NA	9286858, 10854099	Standard	NM_004745	NM_004745	NA	Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2065C>T	8.37:g.1626396C>T	ENSP00000400258:p.Arg689Cys	NA	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104697	0.77096	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.22336	1.96	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60505	-0.7250	10	0.87932	D	0	-4.8866	17.9665	0.89100	0.0:1.0:0.0:0.0	.	754;768	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	C	720;689	ENSP00000400258:R689C	ENSP00000348366:R720C	R	+	1	0	DLGAP2	1613803	1.000000	0.71417	0.996000	0.52242	0.511000	0.34104	7.350000	0.79385	2.231000	0.72958	0.557000	0.71058	CGT	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374478.1		+	ENST00000421627.2	Missense_Mutation	SNP	8 : 1626396 - 1626396 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	380	12
EBF3	253738	broad.mit.edu	37	10	131665458	131665458	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:131665458G>C	ENST00000368648.3	-	10	1031	c.959C>G	c.(958-960)tCc>tGc	p.S320C	EBF3_ENST00000355311.5_Missense_Mutation_p.S329C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	329	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGATTTGTAGGAGAGGGTCAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	81	85			NA	NA	10		NA											NA				131665458		2203	4300	6503	SO:0001583	missense				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001	253738	253738			19087	protein-coding gene	gene with protein product		607407			NA	12355068	Standard	NM_001005463	NM_001005463	NA	Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000368648.3:c.959C>G	10.37:g.131665458G>C	ENSP00000357637:p.Ser320Cys	NA	A0AUY1|Q5T6H9|Q9H4W5	37	CCDS31314.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459324	0.84317	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.46451	0.87;0.87	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.64989	-0.6277	10	0.87932	D	0	-19.8393	18.9221	0.92529	0.0:0.0:1.0:0.0	.	320	Q9H4W6-2	.	C	329;320	ENSP00000347463:S329C;ENSP00000357637:S320C	ENSP00000347463:S329C	S	-	2	0	EBF3	131555448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.716000	0.98752	2.632000	0.89209	0.655000	0.94253	TCC	EBF3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051016.1		-	ENST00000368648.3	Missense_Mutation	SNP	10 : 131665458 - 131665458 C PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	226	6
FN1	2335	broad.mit.edu	37	2	216263993	216263993	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:216263993C>T	ENST00000354785.4	-	21	3704	c.3335G>A	c.(3334-3336)aGa>aAa	p.R1112K	FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000359671.1_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K			P02751	FINC_HUMAN	fibronectin 1	1112	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAACCAATTCTTGGAGCAGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	157	159			NA	NA	2		NA											NA				216263993		2203	4300	6503	SO:0001583	missense				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414	2335	2335		Fibronectin type III domain containing, Endogenous ligands	3778	protein-coding gene	gene with protein product	migration-stimulating factor, cold-insoluble globulin	135600			NA	2992939, 3003095	Standard	NM_212476	NM_054034	NA	Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000354785.4:c.3335G>A	2.37:g.216263993C>T	ENSP00000346839:p.Arg1112Lys	NA	O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	37	CCDS42814.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019242	0.75275	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	L	0.37630	1.12	0.50813	D	0.999892	D;B;P;D;D;B;D;P;D;P	0.65815	0.974;0.16;0.542;0.974;0.962;0.289;0.995;0.953;0.974;0.947	D;B;P;D;D;B;D;D;D;D	0.83275	0.977;0.132;0.493;0.977;0.987;0.279;0.996;0.977;0.977;0.977	T	0.56159	-0.8025	10	0.21540	T	0.41	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	1112;1112;1112;1112;1112;1112;1112;1112;1112;1112	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	K	1112	ENSP00000394423:R1112K;ENSP00000323534:R1112K;ENSP00000338200:R1112K;ENSP00000350534:R1112K;ENSP00000346839:R1112K;ENSP00000352696:R1112K;ENSP00000265312:R1112K;ENSP00000273049:R1112K;ENSP00000349509:R1112K;ENSP00000410422:R1112K;ENSP00000415018:R1112K;ENSP00000399538:R1112K;ENSP00000348285:R1112K	ENSP00000265313:R1112K	R	-	2	0	FN1	215972238	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.928000	0.63447	2.716000	0.92895	0.655000	0.94253	AGA	FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Missense_Mutation	SNP	2 : 216263993 - 216263993 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	502	13
GAD2	2572	broad.mit.edu	37	10	26575376	26575376	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:26575376G>A	ENST00000376261.3	+	13	1842	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R	GAD2_ENST00000259271.3_Missense_Mutation_p.G447R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	447					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.G447R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTACAGTGCGGACGCCACGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(1)|pancreas(1)						G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	129	106	114		1339,1339	5	1	10		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GAD2	NM_000818.2,NM_001134366.1	125,125	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	447/586,447/586	26575376	1,13005	2203	4300	6503	SO:0001583	missense			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	2572	2572	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)		NA	2039509	Standard	NM_000818	NM_000818	NA	Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1339G>A	10.37:g.26575376G>A	ENSP00000365437:p.Gly447Arg	NA	Q9UD87	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704299	0.88924	0.0	1.16E-4	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.48201	0.82;0.82	4.98	4.98	0.66077	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88340	0.2974	10	0.87932	D	0	-14.4635	18.27	0.90065	0.0:0.0:1.0:0.0	.	447	Q05329	DCE2_HUMAN	R	447	ENSP00000365437:G447R;ENSP00000259271:G447R	ENSP00000259271:G447R	G	+	1	0	GAD2	26615382	1.000000	0.71417	0.955000	0.39395	0.790000	0.44656	9.476000	0.97823	2.306000	0.77630	0.655000	0.94253	GGA	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047255.1		+	ENST00000376261.3	Missense_Mutation	SNP	10 : 26575376 - 26575376 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	422	16
GARS	2617	broad.mit.edu	37	7	30662035	30662035	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:30662035G>A	ENST00000389266.3	+	12	1811	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	524					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CATTTGTGATGAGTGCTACAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													219	205	210			NA	NA	7		NA											NA				30662035		1948	4156	6104	SO:0001583	missense			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	2617	2617	6.1.1.14	Aminoacyl tRNA synthetases / Class II	4162	protein-coding gene	gene with protein product	glycine tRNA ligase	600287	Charcot-Marie-Tooth neuropathy 2D	CMT2D	NA	8595897, 8872480	Standard	NM_002047	NM_002047	NA	Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1570G>A	7.37:g.30662035G>A	ENSP00000373918:p.Glu524Lys	NA	B3KQA2|B4DIA0|Q969Y1	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343682	0.61073	.	.	ENSG00000106105	ENST00000389266	D	0.85702	-2.02	5.65	5.65	0.86999	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.84101	0.5398	M	0.68952	2.095	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.78329	-0.2246	10	0.25751	T	0.34	-25.7312	17.5958	0.88011	0.0:0.0:1.0:0.0	.	524	P41250	SYG_HUMAN	K	524	ENSP00000373918:E524K	ENSP00000373918:E524K	E	+	1	0	GARS	30628560	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	6.783000	0.75078	2.836000	0.97738	0.655000	0.94253	GAG	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327735.1		+	ENST00000389266.3	Missense_Mutation	SNP	7 : 30662035 - 30662035 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	1060	42
GPR112	139378	broad.mit.edu	37	X	135429571	135429571	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:135429571A>G	ENST00000394143.1	+	6	3997	c.3706A>G	c.(3706-3708)Aca>Gca	p.T1236A	GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A|GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A|GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1236					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATCTGCCACATATCGTGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	204	216			NA	NA	X		NA											NA				135429571		2203	4300	6503	SO:0001583	missense			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920	139378	139378		-, GPCR / Class B : Orphans	18992	protein-coding gene	gene with protein product					NA	12435584	Standard		XM_005262367	NA	Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3706A>G	X.37:g.135429571A>G	ENSP00000377699:p.Thr1236Ala	NA	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	13.00	2.107852	0.37242	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.21;1.21;1.17;1.28;1.17	3.05	0.638	0.17742	.	.	.	.	.	T	0.41811	0.1175	L	0.32530	0.975	0.09310	N	1	D;D;D	0.67145	0.99;0.996;0.993	D;D;D	0.75484	0.971;0.986;0.968	T	0.18935	-1.0321	9	0.87932	D	0	.	4.1682	0.10317	0.6502:0.0:0.3498:0.0	.	1173;1031;1236	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	1236;1236;1031;1173;1031	ENSP00000377699:T1236A;ENSP00000359686:T1236A;ENSP00000416526:T1031A;ENSP00000287534:T1173A;ENSP00000377697:T1031A	ENSP00000287534:T1173A	T	+	1	0	GPR112	135257237	0.026000	0.19158	0.002000	0.10522	0.004000	0.04260	1.114000	0.31196	0.250000	0.21479	0.427000	0.28365	ACA	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286639.1		+	ENST00000394143.1	Missense_Mutation	SNP	X : 135429571 - 135429571 G PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	1476	68
KCNH7	90134	broad.mit.edu	37	2	163302689	163302689	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:163302689C>T	ENST00000332142.5	-	7	1492	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	465					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTAAAATATCTATGATAAAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(196;1492 2208 17507 24132 45496)							NA				0													89	83	85			NA	NA	2		NA											NA				163302689		2203	4300	6503	SO:0001583	missense			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611	90134	90134		Potassium channels, Voltage-gated ion channels / Potassium channels	18863	protein-coding gene	gene with protein product		608169			NA	16382104	Standard	NM_033272	NM_173162	NA	Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1393G>A	2.37:g.163302689C>T	ENSP00000331727:p.Asp465Asn	NA	Q53QU4|Q53TB7|Q53TP9|Q8IV15	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297171	0.95574	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98120	-4.73;-4.73	5.85	5.85	0.93711	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.99402	1.0928	10	0.87932	D	0	.	20.1606	0.98132	0.0:1.0:0.0:0.0	.	458;465	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	465;458	ENSP00000331727:D465N;ENSP00000333781:D458N	ENSP00000333781:D458N	D	-	1	0	KCNH7	163010935	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.772000	0.95346	0.650000	0.86243	GAT	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255093.1		-	ENST00000332142.5	Missense_Mutation	SNP	2 : 163302689 - 163302689 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	358	15
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	117	6
MAT1A	4143	broad.mit.edu	37	10	82036258	82036258	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:82036258C>T	ENST00000372213.3	-	6	902	c.642G>A	c.(640-642)acG>acA	p.T214T		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	214					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCTCCAGCGTGATGTCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	138	149			NA	NA	10		NA											NA				82036258		2203	4300	6503	SO:0001819	synonymous_variant				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224	4143	4143			6903	protein-coding gene	gene with protein product	S-adenosylmethionine synthetase	610550			NA	8393662	Standard	NM_000429	XM_005269842	NA	Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.642G>A	10.37:g.82036258C>T		NA	D3DWD5|Q5QP09	37	CCDS7365.1																																																																																			MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049070.1		-	ENST00000372213.3	Silent	SNP	10 : 82036258 - 82036258 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	713	27
MGAM	8972	broad.mit.edu	37	7	141759383	141759383	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:141759383C>T	ENST00000475668.2	+	32	3985	c.3931C>T	c.(3931-3933)Cgg>Tgg	p.R1311W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1311W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1311	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATGGGATGCGGGTCATCCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	63	64			NA	NA	7		NA											NA				141759383		2027	4187	6214	SO:0001583	missense			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335	8972	8972			7043	protein-coding gene	gene with protein product		154360			NA	9446624	Standard		NM_004668	NA	Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000475668.2:c.3931C>T	7.37:g.141759383C>T	ENSP00000417515:p.Arg1311Trp	NA	Q0VAX6|Q75ME7|Q86UM5	37		.	.	.	.	.	.	.	.	.	.	c	15.79	2.938077	0.52972	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93859	-3.3	4.21	0.805	0.18703	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.97300	0.9117	H	0.96430	3.82	0.37421	D	0.913656	D	0.89917	1.0	D	0.87578	0.998	D	0.97840	1.0268	9	0.87932	D	0	.	11.2024	0.48749	0.5799:0.4201:0.0:0.0	.	1311	O43451	MGA_HUMAN	W	1311;1311;1188	ENSP00000447378:R1311W	ENSP00000316431:R1188W	R	+	1	2	MGAM	141405852	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.011000	0.29911	0.729000	0.32403	0.194000	0.17425	CGG	MGAM-007	PUTATIVE	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000351290.4		+	ENST00000475668.2	Missense_Mutation	SNP	7 : 141759383 - 141759383 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	310	17
MMP1	4312	broad.mit.edu	37	11	102668153	102668153	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:102668153C>T	ENST00000315274.6	-	2	251	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	62					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTCAATTTTTCAACCACTGGG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	116	116			NA	NA	11		NA											NA				102668153		2203	4299	6502	SO:0001583	missense			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	4312	4312	3.4.24.7	Endogenous ligands	7155	protein-coding gene	gene with protein product		120353	matrix metalloproteinase 1 (interstitial collagenase)	CLG	NA		Standard	NM_002421	NM_002421	NA	Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.184G>A	11.37:g.102668153C>T	ENSP00000322788:p.Glu62Lys	NA	P08156	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387343	0.25031	.	.	ENSG00000196611	ENST00000315274	T	0.38240	1.15	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.186495	0.38058	N	0.001830	T	0.32615	0.0835	L	0.51853	1.615	0.35886	D	0.829282	B	0.19817	0.039	B	0.25140	0.058	T	0.27434	-1.0074	10	0.26408	T	0.33	.	10.6353	0.45560	0.0:0.7973:0.133:0.0696	.	62	P03956	MMP1_HUMAN	K	62	ENSP00000322788:E62K	ENSP00000322788:E62K	E	-	1	0	MMP1	102173363	0.566000	0.26618	0.796000	0.32109	0.615000	0.37417	1.787000	0.38704	2.884000	0.98904	0.655000	0.94253	GAA	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109632.1		-	ENST00000315274.6	Missense_Mutation	SNP	11 : 102668153 - 102668153 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	625	30
MYL1	4632	broad.mit.edu	37	2	211179819	211179819	+	Translation_Start_Site	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:211179819C>A	ENST00000352451.3	-	0	95					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	NA					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCAAAAGAACCTGTCAAAATG	0.463		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						CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530	4632	4632		Myosins / Light chain, EF-hand domain containing	7582	protein-coding gene	gene with protein product		160780	myosin, light polypeptide 1, alkali; skeletal, fast		NA	2304459, 3422212	Standard	NM_079420	NM_079422	NA	Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:	2.37:g.211179819C>A		NA	B2R4N6|B2R4T6|P06741|Q6IBD5	37	CCDS2390.1																																																																																			MYL1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256566.2		-	ENST00000352451.3	De_novo_Start_InFrame	SNP	2 : 211179819 - 211179819 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	985	37
NRN1	51299	broad.mit.edu	37	6	6002623	6002623	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:6002623C>G	ENST00000244766.2	-	2	380	c.163G>C	c.(163-165)Ggc>Cgc	p.G55R	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	55				GL -> AW (in Ref. 3; AAP97232).		anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TCGTCCAGGCCCTGCGGGTAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	132	141			NA	NA	6		NA											NA				6002623		2203	4300	6503	SO:0001583	missense			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785	51299	51299			17972	protein-coding gene	gene with protein product		607409			NA	9122250	Standard		NM_016588	NA	Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.163G>C	6.37:g.6002623C>G	ENSP00000244766:p.Gly55Arg	NA	B2RA93|Q7Z4Y1	37	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348508	0.61183	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.313474	0.30285	N	0.009976	T	0.18130	0.0435	N	0.14661	0.345	0.41287	D	0.986956	B	0.32160	0.358	B	0.27608	0.081	T	0.07290	-1.0780	9	0.21014	T	0.42	-12.6147	13.9329	0.64007	0.0:1.0:0.0:0.0	.	55	Q9NPD7	NRN1_HUMAN	R	55	.	ENSP00000244766:G55R	G	-	1	0	NRN1	5947622	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.796000	0.62496	2.185000	0.69588	0.462000	0.41574	GGC	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039753.1		-	ENST00000244766.2	Missense_Mutation	SNP	6 : 6002623 - 6002623 G PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	737	54
OASL	8638	broad.mit.edu	37	12	121471375	121471375	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:121471375C>T	ENST00000257570.5	-	2	640	c.370G>A	c.(370-372)Gag>Aag	p.E124K	OASL_ENST00000339275.5_Missense_Mutation_p.E124K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	124					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGGTCCTCGAGCCCGAGG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(192;517 2041 31392 31913 39966)							NA				0													117	102	107			NA	NA	12		NA											NA				121471375		2203	4300	6503	SO:0001583	missense			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114	8638	8638			8090	protein-coding gene	gene with protein product		603281			NA	10087211	Standard	NM_003733	NM_003733	NA	Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.370G>A	12.37:g.121471375C>T	ENSP00000257570:p.Glu124Lys	NA	O75686|Q17R95|Q9Y6K6|Q9Y6K7	37	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362354	0.24684	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.10192	2.9;2.9	4.67	-3.47	0.04753	.	.	.	.	.	T	0.08714	0.0216	M	0.64404	1.975	0.09310	N	1	B;B	0.24768	0.108;0.111	B;B	0.17433	0.018;0.008	T	0.44236	-0.9341	9	0.12103	T	0.63	0.0893	5.8603	0.18743	0.0:0.1968:0.4434:0.3599	.	124;124	Q15646-2;Q15646	.;OASL_HUMAN	K	124	ENSP00000257570:E124K;ENSP00000341125:E124K	ENSP00000257570:E124K	E	-	1	0	OASL	119955758	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.620000	0.00879	-0.768000	0.04626	-0.291000	0.09656	GAG	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337875.2		-	ENST00000257570.5	Missense_Mutation	SNP	12 : 121471375 - 121471375 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	590	10
PIEZO2	63895	broad.mit.edu	37	18	10677782	10677782	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr18:10677782C>A	ENST00000302079.6	-	48	7514	c.7515G>T	c.(7513-7515)atG>atT	p.M2505I	PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2593I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.M525I|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.M360I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2568I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2568						integral to membrane	ion channel activity				NA						TGCCTGCTATCATTTTAGCGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	125	127			NA	NA	18		NA											NA				10677782		2202	4300	6502	SO:0001583	missense			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864	63895	63895			26270	protein-coding gene	gene with protein product		613629	chromosome 18 open reading frame 30, chromosome 18 open reading frame 58, family with sequence similarity 38, member B	FAM38B2, C18orf30, C18orf58, FAM38B	NA	20813920, 21056836, 21299953	Standard	NM_022068	NM_022068	NA	Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000302079.6:c.7515G>T	18.37:g.10677782C>A	ENSP00000303316:p.Met2505Ile	NA	B7Z812|Q8N787|Q8NAR6|Q9H5R4	37		.	.	.	.	.	.	.	.	.	.	C	18.37	3.609053	0.66558	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.71222	-0.55;-0.55	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.45137	1.4	0.32401	N	0.551906	P	0.35527	0.507	B	0.33568	0.166	T	0.65257	-0.6212	10	0.14656	T	0.56	.	18.5019	0.90884	0.0:1.0:0.0:0.0	.	462	D6RFZ0	.	I	462;2568;525;360	ENSP00000443129:M525I;ENSP00000285141:M360I	ENSP00000285141:M360I	M	-	3	0	FAM38B	10667782	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.839000	0.69395	2.804000	0.96469	0.655000	0.94253	ATG	PIEZO2-007	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000254528.5		-	ENST00000302079.6	Missense_Mutation	SNP	18 : 10677782 - 10677782 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	545	27
POLRMT	5442	broad.mit.edu	37	19	619972	619972	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:619972C>T	ENST00000588649.2	-	12	2956	c.2872G>A	c.(2872-2874)Ggc>Agc	p.G958S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	958	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.G958S(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGGCCACGCCGCTGTACACG	0.701		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)											13	14	14			NA	NA	19		NA											NA				619972		2170	4281	6451	SO:0001583	missense				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	5442	5442	2.7.7.6		9200	protein-coding gene	gene with protein product		601778			NA	9097968	Standard	NM_005035	NM_005035	NA	Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2872G>A	19.37:g.619972C>T	ENSP00000465759:p.Gly958Ser	NA	O60370	37	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.812856	0.32053	.	.	ENSG00000099821	ENST00000215591	T	0.42513	0.97	4.21	3.16	0.36331	.	0.386351	0.27831	N	0.017663	T	0.37489	0.1005	M	0.71581	2.175	0.09310	N	1	B	0.31519	0.327	B	0.24394	0.053	T	0.32134	-0.9918	10	0.49607	T	0.09	-27.8904	8.7418	0.34562	0.0:0.7608:0.1512:0.0879	.	958	O00411	RPOM_HUMAN	S	958	ENSP00000215591:G958S	ENSP00000215591:G958S	G	-	1	0	POLRMT	570972	0.027000	0.19231	0.009000	0.14445	0.016000	0.09150	1.872000	0.39549	0.882000	0.36016	0.448000	0.29417	GGC	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452172.3		-	ENST00000588649.2	Missense_Mutation	SNP	19 : 619972 - 619972 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	87	6
PPP1R12C	54776	broad.mit.edu	37	19	55607482	55607482	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:55607482G>A	ENST00000263433.3	-	8	1105	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	364						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCACCAGGCCGGCGCTCCTTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	54	50			NA	NA	19		NA											NA				55607482		2203	4300	6503	SO:0001583	missense			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503	54776	54776		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	14947	protein-coding gene	gene with protein product	myosin-binding subunit 85	613245	leukocyte receptor cluster (LRC) member 3, protein phosphatase 1, regulatory (inhibitor) subunit 12C	LENG3	NA	11399775	Standard	NM_017607	NM_017607	NA	Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1090C>T	19.37:g.55607482G>A	ENSP00000263433:p.Arg364Trp	NA	Q59FK8|Q6ZPD1|Q7L8F7|Q96HW1|Q9H5H5|Q9NT00	37	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482775	0.63962	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.69306	-0.2;-0.22;-0.39	4.59	2.28	0.28536	.	0.915533	0.09111	N	0.847095	T	0.54822	0.1882	L	0.50333	1.59	0.32809	D	0.501195	B;B;B	0.33549	0.293;0.417;0.293	B;B;B	0.23716	0.012;0.048;0.021	T	0.59215	-0.7496	10	0.66056	D	0.02	.	5.3627	0.16098	0.0964:0.0:0.5419:0.3618	.	290;364;364	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	W	364;364;290	ENSP00000263433:R364W;ENSP00000365573:R364W;ENSP00000387833:R290W	ENSP00000263433:R364W	R	-	1	2	PPP1R12C	60299294	1.000000	0.71417	0.975000	0.42487	0.855000	0.48748	0.985000	0.29578	0.401000	0.25424	0.655000	0.94253	CGG	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451814.2		-	ENST00000263433.3	Missense_Mutation	SNP	19 : 55607482 - 55607482 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	754	79
PRKACA	5566	broad.mit.edu	37	19	14208284	14208284	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:14208284C>T	ENST00000308677.4	-	8	850	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.K210K	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	218	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGTCCACGGCCTTGTTGTAGC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	38	36			NA	NA	19		NA											NA				14208284		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	5566	5566	2.7.11.1		9380	protein-coding gene	gene with protein product		601639			NA	8884279	Standard	NM_002730	NM_002730	NA	Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.654G>A	19.37:g.14208284C>T		NA	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	37	CCDS12304.1																																																																																			PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459004.1		-	ENST00000308677.4	Silent	SNP	19 : 14208284 - 14208284 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	377	25
PRKAG3	53632	broad.mit.edu	37	2	219694941	219694941	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:219694941A>T	ENST00000529249.1	-	4	708	c.393T>A	c.(391-393)gaT>gaA	p.D131E	PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.D106E			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	131					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCACATCATCTGTGCTGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	31			NA	NA	2		NA											NA				219694941		2203	4300	6503	SO:0001583	missense			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592	53632	53632			9387	protein-coding gene	gene with protein product		604976			NA	10818001	Standard		NM_017431	NA	Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.393T>A	2.37:g.219694941A>T	ENSP00000436068:p.Asp131Glu	NA	Q4QQG8|Q4V779|Q9NRL1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006801	0.74932	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098	T;D;T	0.81499	-1.49;-1.5;0.32	5.5	-3.3	0.05003	.	1.207880	0.05931	N	0.635284	T	0.73481	0.3592	L	0.29908	0.895	0.09310	N	1	D;B;B	0.63046	0.992;0.287;0.189	P;B;B	0.51385	0.668;0.143;0.107	T	0.64271	-0.6447	10	0.24483	T	0.36	-9.8613	6.8052	0.23774	0.4716:0.1295:0.3988:0.0	.	131;106;131	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	E	106;131;131	ENSP00000397133:D106E;ENSP00000436068:D131E;ENSP00000375947:D131E	ENSP00000233944:D131E	D	-	3	2	PRKAG3	219403185	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-0.591000	0.05753	-0.504000	0.06577	0.533000	0.62120	GAT	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385992.1		-	ENST00000529249.1	Missense_Mutation	SNP	2 : 219694941 - 219694941 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	272	7
PSMB1	5689	broad.mit.edu	37	6	170852698	170852698	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:170852698C>G	ENST00000262193.6	-	4	522	c.424G>C	c.(424-426)Gat>Cat	p.D142H	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	142					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CCTTCTTCATCAAGTCCACCG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	101	104			NA	NA	6		NA											NA				170852698		2203	4300	6503	SO:0001583	missense			D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018	5689	5689		Proteasome (prosome, macropain) subunits	9537	protein-coding gene	gene with protein product		602017			NA	2025653	Standard	NM_002793	NM_002793	NA	Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.424G>C	6.37:g.170852698C>G	ENSP00000262193:p.Asp142His	NA	B5BU76|Q9BWA8	37	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559079	0.86335	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.59502	0.26	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86008	0.1499	10	0.87932	D	0	-25.2937	18.5453	0.91044	0.0:1.0:0.0:0.0	.	142	P20618	PSB1_HUMAN	H	142;147	ENSP00000262193:D142H	ENSP00000262193:D142H	D	-	1	0	PSMB1	170694623	1.000000	0.71417	0.944000	0.38274	0.995000	0.86356	6.990000	0.76225	2.451000	0.82905	0.650000	0.86243	GAT	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043278.2		-	ENST00000262193.6	Missense_Mutation	SNP	6 : 170852698 - 170852698 G PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	492	16
RANBP3	8498	broad.mit.edu	37	19	5931417	5931417	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:5931417C>T	ENST00000340578.6	-	8	748	c.691G>A	c.(691-693)Gag>Aag	p.E231K	RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000439268.2_Intron|RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000591092.1_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	231					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCACTGACCTCAAGTGCACAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	43	41			NA	NA	19		NA											NA				5931417		2155	4252	6407	SO:0001583	missense			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05					8498	8498			9850	protein-coding gene	gene with protein product		603327			NA	9637251	Standard	NM_007322	NM_007322	NA	Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.691G>A	19.37:g.5931417C>T	ENSP00000341483:p.Glu231Lys	NA	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	37	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	4.162	0.028634	0.08054	.	.	ENSG00000031823	ENST00000340578;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T	0.29655	1.56;2.31;1.57	5.09	5.09	0.68999	.	0.447428	0.23254	N	0.050220	T	0.18923	0.0454	N	0.12182	0.205	0.80722	D	1	P;P;P	0.40534	0.72;0.59;0.598	B;B;B	0.43536	0.423;0.423;0.243	T	0.02705	-1.1121	10	0.02654	T	1	-31.6799	14.2449	0.65981	0.0:1.0:0.0:0.0	.	103;163;231	F5H4C2;Q9H6Z4-3;Q9H6Z4	.;.;RANB3_HUMAN	K	231;163;162;103	ENSP00000341483:E231K;ENSP00000034275:E163K;ENSP00000445071:E103K	ENSP00000034275:E163K	E	-	1	0	RANBP3	5882417	0.973000	0.33851	0.966000	0.40874	0.055000	0.15305	3.054000	0.49908	2.820000	0.97059	0.650000	0.86243	GAG	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452304.1		-	ENST00000340578.6	Missense_Mutation	SNP	19 : 5931417 - 5931417 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	222	8
RP11-712L6.5	0	broad.mit.edu	37	11	126174162	126174162	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:126174162T>A	ENST00000524964.1	-	0	51				DCPS_ENST00000263579.4_Missense_Mutation_p.F63I						NA											NA						CAAAATCATTTTCCTACACGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	72	72			NA	NA	11		NA											NA				126174162		2201	4298	6499	SO:0001623	5_prime_UTR_variant											NA	NA			NA							NA					NA						ENST00000524964.1:c.-2A>T	11.37:g.126174162T>A		NA		37		.	.	.	.	.	.	.	.	.	.	T	24.5	4.542213	0.85917	.	.	ENSG00000110063	ENST00000263579	T	0.43688	0.94	5.61	5.61	0.85477	Scavenger mRNA decapping enzyme, N-terminal (1);	0.108090	0.64402	D	0.000005	T	0.55970	0.1954	L	0.45698	1.435	0.46749	D	0.99918	D	0.89917	1.0	D	0.75020	0.985	T	0.54702	-0.8254	10	0.44086	T	0.13	-32.6056	13.1724	0.59606	0.0:0.0:0.0:1.0	.	63	Q96C86	DCPS_HUMAN	I	63	ENSP00000263579:F63I	ENSP00000263579:F63I	F	+	1	0	DCPS	125679372	1.000000	0.71417	0.901000	0.35422	0.993000	0.82548	4.303000	0.59098	2.143000	0.66587	0.482000	0.46254	TTC	RP11-712L6.5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386453.1		-	ENST00000524964.1	5'UTR	SNP	11 : 126174162 - 126174162 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	358	22
RPRD2	23248	broad.mit.edu	37	1	150444672	150444672	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:150444672C>G	ENST00000401000.4	+	10	3235	c.3170C>G	c.(3169-3171)gCc>gGc	p.A1057G	RPRD2_ENST00000369068.4_Missense_Mutation_p.A1083G|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1083	Poly-Gln.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAAAGGGGGCCCCTATAGAA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	39	39			NA	NA	1		NA											NA				150444672		1882	4105	5987	SO:0001583	missense			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125	23248	23248			29039	protein-coding gene	gene with protein product		614695	KIAA0460	KIAA0460	NA	22231121	Standard	NM_015203	XM_005245033	NA	Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000401000.4:c.3170C>G	1.37:g.150444672C>G	ENSP00000383785:p.Ala1057Gly	NA	A8K6N8|B3KPT1|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	37		.	.	.	.	.	.	.	.	.	.	C	15.96	2.987202	0.53934	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.56275	0.47;0.48	5.03	4.11	0.48088	.	0.071687	0.56097	D	0.000029	T	0.38134	0.1029	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.98;0.988	P;P	0.53224	0.53;0.721	T	0.45818	-0.9235	10	0.87932	D	0	-10.3322	12.9366	0.58319	0.0:0.9213:0.0:0.0787	.	1083;1057	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	G	1057;1083	ENSP00000383785:A1057G;ENSP00000358064:A1083G	ENSP00000358064:A1083G	A	+	2	0	RPRD2	148711296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.014000	0.64029	1.328000	0.45358	0.655000	0.94253	GCC	RPRD2-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000035843.2		+	ENST00000401000.4	Missense_Mutation	SNP	1 : 150444672 - 150444672 G PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	412	35
SAMSN1	64092	broad.mit.edu	37	21	15858390	15858390	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr21:15858390G>C	ENST00000285670.2	-	9	1343	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S322*|SAMSN1_ENST00000400564.1_Nonsense_Mutation_p.S154*	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	322					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGAGATGTCTGAGCTCAAGGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	65	68			NA	NA	21		NA											NA				15858390		1840	4091	5931	SO:0001587	stop_gained			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307	64092	64092		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	10528	protein-coding gene	gene with protein product	nuclear localization signals, SAM and SH3 domain containing 1, SAM and SH3 domain containing 2, hematopoietic adapter-containing SH3 and sterile &				NA					NA									NA		NA																																																																																								NA									0	0
SMARCA1	6594	broad.mit.edu	37	X	128599617	128599617	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:128599617C>T	ENST00000371122.4	-	23	3039	c.2910G>A	c.(2908-2910)ttG>ttA	p.L970L	SMARCA1_ENST00000371121.3_Silent_p.L958L|SMARCA1_ENST00000371123.1_Silent_p.L958L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	970	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATACAAATCAAGAATCTAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	140	148			NA	NA	X		NA											NA				128599617		2203	4300	6503	SO:0001819	synonymous_variant			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038	6594	6594			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L	NA	1408766, 14609955	Standard	NM_003069	XM_005262461	NA	Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2910G>A	X.37:g.128599617C>T		NA	Q5JV41|Q5JV42	37	CCDS14612.1																																																																																			SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058206.1		-	ENST00000371122.4	Silent	SNP	X : 128599617 - 128599617 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	518	13
SPATA5	166378	broad.mit.edu	37	4	123855729	123855729	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:123855729C>T	ENST00000422835.2	+	0	1025				SPATA5_ENST00000274008.4_Missense_Mutation_p.S328L			Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	NA					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTATTTCTTCAACAACAAGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	39	39			NA	NA	4		NA											NA				123855729		2202	4299	6501	SO:0001624	3_prime_UTR_variant			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375	166378	166378		ATPases / AAA-type	18119	protein-coding gene	gene with protein product	ATPase family gene 2 homolog (S. cerevisiae)	613940			NA	16465403	Standard	NM_145207	NM_145207	NA	Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000422835.2:c.*1022C>T	4.37:g.123855729C>T		NA	C9JT97|Q86XW1|Q8NI20|Q8TDL7	37		.	.	.	.	.	.	.	.	.	.	C	17.93	3.509992	0.64522	.	.	ENSG00000145375	ENST00000274008	D	0.94613	-3.47	5.19	5.19	0.71726	.	0.280274	0.35903	N	0.002902	D	0.92414	0.7592	L	0.31752	0.955	0.41954	D	0.990675	P;P	0.39376	0.67;0.616	B;B	0.42851	0.4;0.343	D	0.93179	0.6573	10	0.66056	D	0.02	-13.3745	18.9179	0.92513	0.0:1.0:0.0:0.0	.	328;328	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	328	ENSP00000274008:S328L	ENSP00000274008:S328L	S	+	2	0	SPATA5	124075179	0.982000	0.34865	1.000000	0.80357	0.990000	0.78478	1.715000	0.37971	2.705000	0.92388	0.655000	0.94253	TCA	SPATA5-002	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000363996.2		+	ENST00000422835.2	3'UTR	SNP	4 : 123855729 - 123855729 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	293	9
TMEM14B	81853	broad.mit.edu	37	6	10755436	10755436	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:10755436C>T	ENST00000473276.1	+	3	194	c.85C>T	c.(85-87)Cat>Tat	p.H29Y	TMEM14B_ENST00000491103.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000379542.5_Silent_p.F88F|TMEM14B_ENST00000461342.1_Silent_p.F54F|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000379530.3_Silent_p.F54F|TMEM14B_ENST00000481240.1_Silent_p.F54F|TMEM14B_ENST00000475942.1_Silent_p.F88F|TMEM14B_ENST00000467317.1_Silent_p.F88F			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	0						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				ATGGAAAATTCATGCCTGTAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													186	171	176			NA	NA	6		NA											NA				10755436		2203	4300	6503	SO:0001583	missense			AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210	81853	81853			21384	protein-coding gene	gene with protein product					NA		Standard	NM_030969	NM_030969	NA	Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000473276.1:c.85C>T	6.37:g.10755436C>T	ENSP00000420580:p.His29Tyr	NA	Q5THN8|Q96IX7|Q9BVN8	37		.	.	.	.	.	.	.	.	.	.	C	5.731	0.319266	0.10845	.	.	ENSG00000137210	ENST00000473276	T	0.40225	1.04	3.84	-5.39	0.02664	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47341	-0.9125	5	.	.	.	.	13.8756	0.63651	0.1176:0.7423:0.0:0.1401	.	.	.	.	Y	29	ENSP00000420580:H29Y	.	H	+	1	0	TMEM14B	10863422	0.156000	0.22821	0.899000	0.35326	0.435000	0.31806	-0.928000	0.03980	-1.139000	0.02881	-0.367000	0.07326	CAT	TMEM14B-019	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000353736.1		+	ENST00000473276.1	Missense_Mutation	SNP	6 : 10755436 - 10755436 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	431	25
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	C	rs28934574		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:7577094G>C	ENST00000420246.2	-	8	976	c.844C>G	c.(844-846)Cgg>Ggg	p.R282G	TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000269305.4_Missense_Mutation_p.R282G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574						83	71	75			NA	NA	17		NA											NA				7577094		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.844C>G	17.37:g.7577094G>C	ENSP00000391127:p.Arg282Gly	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	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743784	0.69418	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89968	3.075	0.58432	D	0.999997	P;D;P;P	0.89917	0.826;1.0;0.856;0.483	P;D;P;P	0.79108	0.751;0.992;0.839;0.591	D	0.98579	1.0649	10	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	.	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	282;282;282;282;282;271;150	ENSP00000352610:R282G;ENSP00000269305:R282G;ENSP00000398846:R282G;ENSP00000391127:R282G;ENSP00000391478:R282G;ENSP00000425104:R150G	ENSP00000269305:R282G	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577094 - 7577094 C PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	348	83
TPRG1	285386	broad.mit.edu	37	3	188933150	188933150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:188933150C>T	ENST00000345063.3	+	3	447	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	94										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGAGACCATTCAAGGCTTCTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	67	69			NA	NA	3		NA											NA				188933150		2203	4300	6503	SO:0001587	stop_gained			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001	285386	285386			24759	protein-coding gene	gene with protein product			family with sequence similarity 79, member B	FAM79B	NA		Standard	NM_198485	NM_198485	NA	Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.280C>T	3.37:g.188933150C>T	ENSP00000341031:p.Gln94*	NA		37	CCDS3292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.844383|4.844383	0.91197|0.91197	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832|ENST00000425670	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.205984|.	0.52532|.	D|.	0.000067|.	.|T	.|0.65821	.|0.2728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69698	.|-0.5075	.|3	0.44086|.	T|.	0.13|.	-8.88|-8.88	14.7487|14.7487	0.69508|0.69508	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	94|21	.|.	ENSP00000341031:Q94X|.	Q|S	+|+	1|2	0|0	TPRG1|TPRG1	190415844|190415844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.424000|2.424000	0.44714|0.44714	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	CAA|TCA	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343931.1		+	ENST00000345063.3	Nonsense_Mutation	SNP	3 : 188933150 - 188933150 T PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	242	10
TRPC6	7225	broad.mit.edu	37	11	101362468	101362468	+	Splice_Site	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362468T>A	ENST00000532133.1	-	3	949	c.947A>T	c.(946-948)aAt>aTt	p.N316I	TRPC6_ENST00000344327.3_Splice_Site_p.N316I|TRPC6_ENST00000360497.4_Splice_Site_p.N316I|TRPC6_ENST00000348423.4_Intron			Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	316					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTGTAGTCATTCTAGGAAAA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(166;1315 1927 11094 12848 34731)							NA				0													60	58	59			NA	NA	11		NA											NA				101362468		2203	4299	6502	SO:0001630	splice_region_variant			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672	7225	7225		Voltage-gated ion channels / Transient receptor potential cation channels	12338	protein-coding gene	gene with protein product		603652	focal segmental glomerulosclerosis 2	FSGS2	NA	9925922, 16382100, 15879175	Standard	NM_004621	NM_004621	NA	Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000532133.1:c.946-1A>T	11.37:g.101362468T>A		NA	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	37		.	.	.	.	.	.	.	.	.	.	T	22.2	4.263387	0.80358	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.61980	0.06;0.06;0.06	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80065	-0.1538	10	0.59425	D	0.04	-11.6271	16.806	0.85666	0.0:0.0:0.0:1.0	.	316;316	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	I	316	ENSP00000340913:N316I;ENSP00000435574:N316I;ENSP00000353687:N316I	ENSP00000340913:N316I	N	-	2	0	TRPC6	100867678	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.950000	0.87804	2.367000	0.80283	0.529000	0.55759	AAT	TRPC6-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394771.1	Missense_Mutation	-	ENST00000532133.1	Splice_Site	SNP	11 : 101362468 - 101362468 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	319	12
TRPC6	7225	broad.mit.edu	37	11	101362330	101362330	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362330T>A	ENST00000532133.1	-	3	1087	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	TRPC6_ENST00000344327.3_Missense_Mutation_p.N362I|TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000348423.4_Intron			Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	362					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACGGCTGAGATTTGGGCGACC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(166;1315 1927 11094 12848 34731)							NA				0													134	138	136			NA	NA	11		NA											NA				101362330		2203	4299	6502	SO:0001583	missense			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672	7225	7225		Voltage-gated ion channels / Transient receptor potential cation channels	12338	protein-coding gene	gene with protein product		603652	focal segmental glomerulosclerosis 2	FSGS2	NA	9925922, 16382100, 15879175	Standard	NM_004621	NM_004621	NA	Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000532133.1:c.1085A>T	11.37:g.101362330T>A	ENSP00000435574:p.Asn362Ile	NA	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	37		.	.	.	.	.	.	.	.	.	.	T	15.28	2.786962	0.49997	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.65549	1.41;1.41;-0.16	6.14	5.02	0.67125	.	0.176574	0.56097	D	0.000023	T	0.62332	0.2419	L	0.50333	1.59	0.35279	D	0.781152	P;P	0.40578	0.677;0.722	P;P	0.50970	0.655;0.534	T	0.72523	-0.4267	10	0.66056	D	0.02	-6.7914	3.5277	0.07765	0.0:0.2969:0.0:0.7031	.	362;362	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	I	362	ENSP00000340913:N362I;ENSP00000435574:N362I;ENSP00000353687:N362I	ENSP00000340913:N362I	N	-	2	0	TRPC6	100867540	1.000000	0.71417	0.968000	0.41197	0.850000	0.48378	2.065000	0.41442	2.367000	0.80283	0.529000	0.55759	AAT	TRPC6-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394771.1		-	ENST00000532133.1	Missense_Mutation	SNP	11 : 101362330 - 101362330 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	856	33
UNC13B	10497	broad.mit.edu	37	9	35236562	35236562	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:35236562G>C	ENST00000378495.3	+	4	471	c.249G>C	c.(247-249)aaG>aaC	p.K83N	UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N|UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	83					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCGCTGAAGACTATTCGTC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													305	261	276			NA	NA	9		NA											NA				35236562		2203	4300	6503	SO:0001583	missense			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722	10497	10497			12566	protein-coding gene	gene with protein product		605836	unc-13-like (C. elegans)	UNC13	NA	9607201	Standard	NM_006377	NM_006377	NA	Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.249G>C	9.37:g.35236562G>C	ENSP00000367756:p.Lys83Asn	NA	Q5VYM8	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897790	0.33535	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	T;T;T	0.70749	-0.51;-0.51;-0.51	5.21	3.33	0.38152	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.256850	0.36893	N	0.002350	T	0.51805	0.1696	N	0.17474	0.49	0.40200	D	0.977502	B;B;B	0.12630	0.0;0.006;0.0	B;B;B	0.15052	0.001;0.012;0.001	T	0.48885	-0.8995	10	0.66056	D	0.02	-6.2976	7.8316	0.29347	0.1517:0.1359:0.7123:0.0	.	83;83;83	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	N	83	ENSP00000380006:K83N;ENSP00000367756:K83N;ENSP00000367757:K83N	ENSP00000367756:K83N	K	+	3	2	UNC13B	35226562	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.737000	0.26144	0.741000	0.32674	0.591000	0.81541	AAG	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052296.1		+	ENST00000378495.3	Missense_Mutation	SNP	9 : 35236562 - 35236562 C PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	762	33
VAC14	55697	broad.mit.edu	37	16	70814758	70814758	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:70814758G>A	ENST00000261776.5	-	9	1291	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	344					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCTCTGCCCAGGTCTCAGCTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	52	56			NA	NA	16		NA											NA				70814758		2198	4300	6498	SO:0001583	missense			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043	55697	55697			25507	protein-coding gene	gene with protein product		604632	Tax1 (human T-cell leukemia virus type I) binding protein 2	TAX1BP2	NA	15542851, 12719380	Standard	NM_018052	NM_018052	NA	Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1031C>T	16.37:g.70814758G>A	ENSP00000261776:p.Pro344Leu	NA	B3KPJ5|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	37	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218622	0.39201	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.69	4.74	0.60224	Armadillo-type fold (1);	0.540041	0.19458	N	0.113776	T	0.41003	0.1140	L	0.40543	1.245	0.31982	N	0.605736	B	0.09022	0.002	B	0.06405	0.002	T	0.44390	-0.9331	9	0.24483	T	0.36	-0.7265	9.2593	0.37603	0.0739:0.0:0.7822:0.1439	.	344	Q08AM6	VAC14_HUMAN	L	344	.	ENSP00000261776:P344L	P	-	2	0	VAC14	69372259	0.968000	0.33430	0.008000	0.14137	0.008000	0.06430	1.662000	0.37418	1.414000	0.47017	0.561000	0.74099	CCT	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268973.3		-	ENST00000261776.5	Missense_Mutation	SNP	16 : 70814758 - 70814758 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	211	18
ZBTB45	84878	broad.mit.edu	37	19	59028970	59028970	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:59028970T>C	ENST00000594051.1	-	2	551	c.71A>G	c.(70-72)aAt>aGt	p.N24S	ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S|ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCTCTGCCCATTGAGGGTCTC	0.612		NA									OREG0025700	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		NSCLC(164;1383 2017 5233 27540 46677)							NA				0													58	64	62			NA	NA	19		NA											NA				59028970		2203	4300	6503	SO:0001583	missense			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574	84878	84878		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	23715	protein-coding gene	gene with protein product			zinc finger protein 499	ZNF499	NA		Standard	NM_032792	NM_032792	NA	Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.71A>G	19.37:g.59028970T>C	ENSP00000469089:p.Asn24Ser	1035		37	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	t	17.95	3.514926	0.64634	.	.	ENSG00000119574	ENST00000354590	T	0.69806	-0.43	3.91	3.91	0.45181	BTB/POZ (1);BTB/POZ fold (2);	0.162750	0.39407	U	0.001372	T	0.76758	0.4032	M	0.70595	2.14	0.30376	N	0.782376	D	0.65815	0.995	P	0.62382	0.901	T	0.76691	-0.2866	10	0.87932	D	0	.	10.9818	0.47499	0.0:0.0:0.0:1.0	.	24	Q96K62	ZBT45_HUMAN	S	24	ENSP00000346603:N24S	ENSP00000346603:N24S	N	-	2	0	ZBTB45	63720782	1.000000	0.71417	0.953000	0.39169	0.750000	0.42670	4.312000	0.59154	1.557000	0.49525	0.254000	0.18369	AAT	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000467067.1		-	ENST00000594051.1	Missense_Mutation	SNP	19 : 59028970 - 59028970 C PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	357	32
ZCCHC11	23318	broad.mit.edu	37	1	52940826	52940826	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:52940826G>A	ENST00000371544.3	-	13	2667	c.2405C>T	c.(2404-2406)aCc>aTc	p.T802I	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	802					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTTTTGCTGGTAGAAAGAGA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	146	146			NA	NA	1		NA											NA				52940826		2202	4300	6502	SO:0001583	missense			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744	23318	23318		Zinc fingers, CCHC domain containing	28981	protein-coding gene	gene with protein product	TUTase4	613692			NA	8724849, 12239557	Standard	XM_038288	NM_015269	NA	Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2405C>T	1.37:g.52940826G>A	ENSP00000360599:p.Thr802Ile	NA	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785809	0.16189	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46063	0.89;0.89;0.88;0.88	5.49	4.54	0.55810	.	1.017500	0.07834	N	0.961803	T	0.34716	0.0907	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.14023	0.008;0.01	T	0.02437	-1.1159	10	0.33141	T	0.24	.	15.6404	0.76997	0.0:0.0:0.862:0.138	.	561;802	E9PKX1;Q5TAX3	.;TUT4_HUMAN	I	802;802;731;561	ENSP00000257177:T802I;ENSP00000360599:T802I;ENSP00000433486:T731I;ENSP00000435256:T561I	ENSP00000257177:T802I	T	-	2	0	ZCCHC11	52713414	0.890000	0.30428	1.000000	0.80357	0.288000	0.27193	3.391000	0.52530	2.570000	0.86706	0.557000	0.71058	ACC	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022462.1		-	ENST00000371544.3	Missense_Mutation	SNP	1 : 52940826 - 52940826 A PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	987	45
ZNF224	7767	broad.mit.edu	37	19	44612263	44612263	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:44612263G>C	ENST00000336976.6	+	6	2204	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	650					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTGTAGAAAAGCCATACAAAT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	92	94			NA	NA	19		NA											NA				44612263		2203	4300	6503	SO:0001583	missense			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680	7767	7767		Zinc fingers, C2H2-type, -	13017	protein-coding gene	gene with protein product		194555	zinc finger protein 255, zinc finger protein 27	ZNF255, ZNF27	NA		Standard	NM_013398	NM_013398	NA	Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1950G>C	19.37:g.44612263G>C	ENSP00000337368:p.Lys650Asn	NA	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	12.05	1.822267	0.32237	.	.	ENSG00000186019	ENST00000336976	T	0.64085	-0.08	3.08	-3.07	0.05363	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62648	0.2445	L	0.46614	1.455	0.23851	N	0.996665	D	0.76494	0.999	P	0.60173	0.87	T	0.55560	-0.8122	9	0.72032	D	0.01	.	4.7512	0.13061	0.3991:0.0:0.454:0.147	.	650	Q9NZL3	ZN224_HUMAN	N	650	ENSP00000337368:K650N	ENSP00000337368:K650N	K	+	3	2	ZNF224	49304103	0.000000	0.05858	0.006000	0.13384	0.167000	0.22549	-2.564000	0.00918	-0.239000	0.09710	0.491000	0.48974	AAG	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000460477.1		+	ENST00000336976.6	Missense_Mutation	SNP	19 : 44612263 - 44612263 C PAAD-TCGA-H6-A45N-Tumor-SM-47KKB	587	21
