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
ANK2	287	broad.mit.edu	37	4	114280346	114280346	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:114280346C>T	ENST00000357077.4	+	38	10625	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3491					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	4		NA											NA				114280346		2203	4300	6503	SO:0001819	synonymous_variant			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10572C>T	4.37:g.114280346C>T		NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1																																																																																			ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Silent	SNP	4 : 114280346 - 114280346 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	450	9
ANKRD24	170961	broad.mit.edu	37	19	4217177	4217177	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:4217177G>A	ENST00000600132.1	+	18	2296	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	674										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAACATGGAGGCCACGGGCTC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	31	28			NA	NA	19		NA											NA				4217177		2143	4248	6391	SO:0001583	missense			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847	170961	170961		Ankyrin repeat domain containing	29424	protein-coding gene	gene with protein product					NA	11853319	Standard	XM_114000	NM_133475	NA	Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2020G>A	19.37:g.4217177G>A	ENSP00000471252:p.Ala674Thr	NA	O75268|O95781	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.347909	0.41599	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.39229	1.12;1.09	2.05	0.887	0.19200	.	.	.	.	.	T	0.24353	0.0590	N	0.19112	0.55	0.22975	N	0.998482	P;D	0.53885	0.937;0.963	B;B	0.41174	0.143;0.349	T	0.12091	-1.0561	9	0.24483	T	0.36	.	8.2537	0.31741	0.0:0.0:0.7599:0.2401	.	674;764	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	T	674;764	ENSP00000321731:A674T;ENSP00000262970:A764T	ENSP00000262970:A764T	A	+	1	0	ANKRD24	4168177	0.032000	0.19561	0.033000	0.17914	0.010000	0.07245	0.256000	0.18351	0.156000	0.19299	0.407000	0.27541	GCC	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458188.1		+	ENST00000600132.1	Missense_Mutation	SNP	19 : 4217177 - 4217177 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	92	6
APCDD1	147495	broad.mit.edu	37	18	10485496	10485496	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:10485496A>G	ENST00000355285.5	+	4	1166	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	NA					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CGGATCATCTATCGGTCAGAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	113	118			NA	NA	18		NA											NA				10485496		2203	4300	6503	SO:0001583	missense			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856	147495	147495			15718	protein-coding gene	gene with protein product		607479			NA	12384519	Standard	NM_153000	NM_153000	NA	Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.812A>G	18.37:g.10485496A>G	ENSP00000347433:p.Tyr271Cys	NA	B4DUQ0|B4DZT0|Q71M25	37	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937161	0.34189	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18016	2.24	4.9	2.39	0.29439	.	0.373449	0.31872	N	0.006924	T	0.25865	0.0630	L	0.54323	1.7	0.80722	D	1	P	0.49307	0.922	P	0.54346	0.749	T	0.00719	-1.1595	10	0.48119	T	0.1	-27.5474	9.1807	0.37141	0.5802:0.0:0.0:0.4198	.	271	Q8J025	APCD1_HUMAN	C	271;322	ENSP00000347433:Y271C	ENSP00000347433:Y271C	Y	+	2	0	APCDD1	10475496	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	2.380000	0.44327	0.314000	0.23086	0.454000	0.30748	TAT	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254529.2		+	ENST00000355285.5	Missense_Mutation	SNP	18 : 10485496 - 10485496 G PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	624	30
ARHGEF10	9639	broad.mit.edu	37	8	1841800	1841800	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:1841800G>A	ENST00000518288.1	+	13	1486	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000398564.1_Silent_p.K441K|ARHGEF10_ENST00000262112.6_Silent_p.K441K|ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000398560.1_Silent_p.K402K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	441	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGCTCTTAAGAGGATTTTGG	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	130	131			NA	NA	8		NA											NA				1841800		2203	4300	6503	SO:0001819	synonymous_variant			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728	9639	9639		Rho guanine nucleotide exchange factors	14103	protein-coding gene	gene with protein product		608136			NA	9205841, 16896804	Standard		XM_005266039	NA	Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000518288.1:c.1323G>A	8.37:g.1841800G>A		NA	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	37																																																																																				ARHGEF10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000374591.1		+	ENST00000518288.1	Silent	SNP	8 : 1841800 - 1841800 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	412	23
C18orf8	29919	broad.mit.edu	37	18	21110072	21110072	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:21110072C>T	ENST00000590868.1	+	15	1531	c.1431C>T	c.(1429-1431)caC>caT	p.H477H	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000269221.3_Silent_p.H525H			Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	525	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCAGTACCACGTCCTCAGCG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													240	245	243			NA	NA	18		NA											NA				21110072		2203	4300	6503	SO:0001819	synonymous_variant			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452	29919	29919			24326	protein-coding gene	gene with protein product	colon cancer associated protein Mic1, macrophage inhibitory cytokine 1				NA	12477932	Standard	NM_013326	NM_013326	NA	Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000590868.1:c.1431C>T	18.37:g.21110072C>T		NA	Q9BU17|Q9Y5M0	37																																																																																				C18orf8-004	NOVEL	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000445389.1		+	ENST00000590868.1	Silent	SNP	18 : 21110072 - 21110072 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	1556	38
C3orf20	84077	broad.mit.edu	37	3	14813595	14813595	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:14813595C>A	ENST00000253697.3	+	16	2969	c.2517C>A	c.(2515-2517)agC>agA	p.S839R	C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R|C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	839						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGTCCTGAGCCTGGAGGATT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	87	89			NA	NA	3		NA											NA				14813595		2203	4300	6503	SO:0001583	missense			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379	84077	84077			25320	protein-coding gene	gene with protein product					NA	11230166	Standard	NM_032137	NM_032137	NA	Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2517C>A	3.37:g.14813595C>A	ENSP00000253697:p.Ser839Arg	NA	Q7L0U6|Q8NCP2|Q9H0I7	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445678	0.25987	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08546	3.37;3.08;3.08	2.95	2.95	0.34219	.	0.876695	0.09658	N	0.772847	T	0.08044	0.0201	N	0.19112	0.55	0.09310	N	1	P;P	0.39157	0.662;0.662	B;B	0.42422	0.387;0.387	T	0.32613	-0.9900	10	0.51188	T	0.08	-2.1017	9.6058	0.39632	0.0:1.0:0.0:0.0	.	717;839	Q8ND61-2;Q8ND61	.;CC020_HUMAN	R	839;717;717	ENSP00000253697:S839R;ENSP00000402933:S717R;ENSP00000396081:S717R	ENSP00000253697:S839R	S	+	3	2	C3orf20	14788599	0.012000	0.17670	0.029000	0.17559	0.038000	0.13279	1.422000	0.34826	1.957000	0.56846	0.491000	0.48974	AGC	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340586.1		+	ENST00000253697.3	Missense_Mutation	SNP	3 : 14813595 - 14813595 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	197	5
CACNA1C	775	broad.mit.edu	37	12	2797804	2797804	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:2797804C>T	ENST00000399655.1	+	46	6241	c.5976C>T	c.(5974-5976)tgC>tgT	p.C1992C	CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000399649.1_Silent_p.C1998C|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000399591.1_Silent_p.C2000C|CACNA1C_ENST00000347598.4_Silent_p.C2040C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000406454.3_Silent_p.C2063C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000399601.1_Silent_p.C1992C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2075					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCATCCACTGCGGCTCCTGGG	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,,,,,,,,,,,,,,,,,,,,	0,3874		0,0,1937	40	47	45		5976,6120,6099,6081,6060,6036,6033,6033,6033,6027,6000,6000,5994,5976,5976,5976,5976,5967,5943,5976,6081,6156,6225	4.1	1	12		45	1,8267		0,1,4133	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,1,6070	TT,TC,CC	NA	0.0121,0.0,0.0082	,,,,,,,,,,,,,,,,,,,,,,	1992/2139,2040/2187,2033/2180,2027/2174,2020/2167,2012/2159,2011/2158,2011/2158,2011/2158,2009/2156,2000/2147,2000/2147,1998/2145,1992/2139,1992/2139,1992/2139,1992/2139,1989/2136,1981/2128,1992/2139,2027/2174,2052/2199,2075/2222	2797804	1,12141	1937	4134	6071	SO:0001819	synonymous_variant			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067	775	775		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1	NA	1650913, 16382099	Standard	NM_000719	NM_001129832	NA	Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399655.1:c.5976C>T	12.37:g.2797804C>T		NA	B2RUT3|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	37	CCDS44794.1																																																																																			CACNA1C-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317019.2		+	ENST00000399655.1	Silent	SNP	12 : 2797804 - 2797804 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	453	6
CDC27	996	broad.mit.edu	37	17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L173S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGTTCTGTAAAGATGTGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	NS(1)											77	77	77			NA	NA	17		NA											NA				45234708		2203	4300	6503	SO:0001583	missense			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897	996	996		Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing	1728	protein-coding gene	gene with protein product	anaphase promoting complex subunit 3	116946	cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae)	D0S1430E, D17S978E	NA	8234252	Standard		XM_005257892	NA	Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.518T>C	17.37:g.45234708A>G	ENSP00000066544:p.Leu173Ser	NA	Q16349|Q96F35	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822437	0.50739	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69175	-0.37;-0.34;-0.17;-0.38;0.74	5.39	5.39	0.77823	.	0.250879	0.32328	N	0.006250	T	0.52980	0.1768	L	0.29908	0.895	0.50313	D	0.99986	P;B;B;B	0.38250	0.624;0.119;0.057;0.072	B;B;B;B	0.34590	0.186;0.143;0.083;0.062	T	0.54241	-0.8323	10	0.33141	T	0.24	-12.8267	13.3763	0.60741	1.0:0.0:0.0:0.0	.	112;173;173;173	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	173;173;112;173;173	ENSP00000066544:L173S;ENSP00000434614:L173S;ENSP00000392802:L112S;ENSP00000437339:L173S;ENSP00000432105:L173S	ENSP00000066544:L173S	L	-	2	0	CDC27	42589707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.315000	0.89983	2.053000	0.61076	0.528000	0.53228	TTA	CDC27-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389742.2		-	ENST00000066544.3	Missense_Mutation	SNP	17 : 45234708 - 45234708 G PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	373	5
CDH18	1016	broad.mit.edu	37	5	19612555	19612555	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:19612555G>A	ENST00000506372.1	-	6	1310	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	CDH18_ENST00000502796.1_Missense_Mutation_p.R267C|CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000507958.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C|CDH18_ENST00000511273.1_Missense_Mutation_p.R267C			Q13634	CAD18_HUMAN	cadherin 18, type 2	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGGAAAGCGTGGTGGGTTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													176	161	166			NA	NA	5		NA											NA				19612555		2203	4300	6503	SO:0001583	missense			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526	1016	1016		Cadherins / Major cadherins	1757	protein-coding gene	gene with protein product		603019			NA	9030594, 10191097	Standard	NM_004934	NM_004934	NA	Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000506372.1:c.799C>T	5.37:g.19612555G>A	ENSP00000424931:p.Arg267Cys	NA	A8K0I2|Q8N5Z2	37		.	.	.	.	.	.	.	.	.	.	G	13.49	2.252883	0.39797	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.95	0.216	0.15258	Cadherin (3);Cadherin-like (1);	0.101818	0.64402	D	0.000006	T	0.52597	0.1744	L	0.52573	1.65	0.22017	N	0.99941	D;P	0.76494	0.999;0.591	P;B	0.61275	0.886;0.109	T	0.55477	-0.8135	9	.	.	.	.	16.4031	0.83649	0.0:0.0:0.3577:0.6423	.	267;267	B4DHG6;Q13634	.;CAD18_HUMAN	C	267;267;267;267;267;267;213;267	ENSP00000371710:R267C;ENSP00000425093:R267C;ENSP00000274170:R267C;ENSP00000424931:R267C;ENSP00000422138:R267C;ENSP00000427383:R213C;ENSP00000425854:R267C	.	R	-	1	0	CDH18	19648312	0.325000	0.24660	0.889000	0.34880	0.102000	0.19082	1.230000	0.32612	0.088000	0.17205	0.563000	0.77884	CGC	CDH18-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000366746.1		-	ENST00000506372.1	Missense_Mutation	SNP	5 : 19612555 - 19612555 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	328	10
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:21971111G>A	ENST00000479692.2	-	2	108	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			L -> P (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385						12	15	14			NA	NA	9		NA											NA				21971111		2176	4259	6435	SO:0001583	missense			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.94C>T	9.37:g.21971111G>A	ENSP00000466887:p.His32Tyr	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Missense_Mutation	SNP	9 : 21971111 - 21971111 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	84	6
DDHD2	23259	broad.mit.edu	37	8	38110300	38110300	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:38110300A>G	ENST00000529845.1	+	4	343	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	DDHD2_ENST00000397166.2_Missense_Mutation_p.M560V|DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V|DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V			O94830	DDHD2_HUMAN	DDHD domain containing 2	560					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ATTTGAGCCAATGCTGATCCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	130	136			NA	NA	8		NA											NA				38110300		2203	4300	6503	SO:0001583	missense			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07			23259	23259		Sterile alpha motif (SAM) domain containing	29106	protein-coding gene	gene with protein product		615003	SAM, WWE and DDHD domain containing 1	SAMWD1	NA	9872452, 11788596, 19632984, 20932832	Standard	XM_291291	NM_015214	NA	Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000529845.1:c.31A>G	8.37:g.38110300A>G	ENSP00000431638:p.Met11Val	NA	B3KWV2|Q9H8X7	37		.	.	.	.	.	.	.	.	.	.	A	5.136	0.210761	0.09757	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845	T;T	0.24908	1.83;1.83	5.34	5.34	0.76211	DDHD (2);	0.038953	0.85682	D	0.000000	T	0.12902	0.0313	N	0.11000	0.08	0.50813	D	0.999897	B	0.14012	0.009	B	0.15052	0.012	T	0.07065	-1.0792	10	0.02654	T	1	-27.1583	14.7906	0.69841	1.0:0.0:0.0:0.0	.	560	O94830	DDHD2_HUMAN	V	560;560;179;11	ENSP00000380352:M560V;ENSP00000429932:M560V	ENSP00000380352:M560V	M	+	1	0	DDHD2	38229457	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.405000	0.66351	2.143000	0.66587	0.260000	0.18958	ATG	DDHD2-024	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000381972.1		+	ENST00000529845.1	Missense_Mutation	SNP	8 : 38110300 - 38110300 G PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	346	30
DDX60	55601	broad.mit.edu	37	4	169206628	169206628	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:169206628G>C	ENST00000393743.3	-	11	1652	c.1361C>G	c.(1360-1362)cCc>cGc	p.P454R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	454							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCCAAATTGGGCACCATTTC	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	47	48			NA	NA	4		NA											NA				169206628		2203	4300	6503	SO:0001583	missense			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628	55601	55601			25942	protein-coding gene	gene with protein product		613974			NA	12477932	Standard	NM_017631	NM_017631	NA	Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1361C>G	4.37:g.169206628G>C	ENSP00000377344:p.Pro454Arg	NA	Q6PK35|Q9NVE3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443929	0.25987	.	.	ENSG00000137628	ENST00000393743	T	0.19394	2.15	4.53	3.66	0.41972	.	0.430135	0.22084	N	0.064857	T	0.41534	0.1163	M	0.77820	2.39	0.19300	N	0.999977	D	0.71674	0.998	D	0.65684	0.937	T	0.19128	-1.0315	10	0.56958	D	0.05	.	8.3075	0.32051	0.0845:0.0:0.7589:0.1567	.	454	Q8IY21	DDX60_HUMAN	R	454	ENSP00000377344:P454R	ENSP00000377344:P454R	P	-	2	0	DDX60	169443203	0.330000	0.24705	0.051000	0.19133	0.249000	0.25844	2.143000	0.42187	0.972000	0.38314	0.557000	0.71058	CCC	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364622.1		-	ENST00000393743.3	Missense_Mutation	SNP	4 : 169206628 - 169206628 C PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	378	13
DENND2A	27147	broad.mit.edu	37	7	140301961	140301961	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:140301961C>T	ENST00000275884.6	-	2	654	c.237G>A	c.(235-237)acG>acA	p.T79T	DENND2A_ENST00000492720.1_Silent_p.T79T|DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	79										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTCTCCACCGTAGAGGACG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	152	153			NA	NA	7		NA											NA				140301961		2004	4183	6187	SO:0001819	synonymous_variant			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966	27147	27147		DENN/MADD domain containing	22212	protein-coding gene	gene with protein product			KIAA1277	KIAA1277	NA		Standard	NM_015689	NM_015689	NA	Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.237G>A	7.37:g.140301961C>T		NA	C9JUI3|Q1RMD5|Q86XY0	37	CCDS43659.1																																																																																			DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348742.1		-	ENST00000275884.6	Silent	SNP	7 : 140301961 - 140301961 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	620	40
FAM104B	90736	broad.mit.edu	37	X	55185648	55185648	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:55185648T>A	ENST00000477847.2	-	2	158	c.25A>T	c.(25-27)Aat>Tat	p.N9Y	FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000425133.2_Missense_Mutation_p.N12Y|FAM104B_ENST00000472571.2_Missense_Mutation_p.N12Y|FAM104B_ENST00000358460.4_Missense_Mutation_p.N12Y|FAM104B_ENST00000489298.1_Missense_Mutation_p.N11Y|FAM104B_ENST00000332132.4_Missense_Mutation_p.N12Y	NM_001166702.1	NP_001160174.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	12										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTACTGCCATTTCTTCTTCTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	98	107			NA	NA	X		NA											NA				55185648		2203	4300	6503	SO:0001583	missense			BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518	90736	90736			25085	protein-coding gene	gene with protein product			chromosome X open reading frame 44	CXorf44	NA	12477932	Standard	NM_138362	NM_138362	NA	Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000477847.2:c.25A>T	X.37:g.55185648T>A	ENSP00000421161:p.Asn9Tyr	NA	A6NEH1|Q8WVU5|Q9BRA1	37	CCDS55423.1	.	.	.	.	.	.	.	.	.	.	t	7.092	0.572368	0.13623	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000472571;ENST00000477847;ENST00000489298	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	2.17	0.965	0.19661	.	0.258372	0.26638	U	0.023273	T	0.51244	0.1663	L	0.46157	1.445	0.09310	N	1	D;D;D	0.65815	0.995;0.991;0.991	D;P;P	0.65684	0.937;0.899;0.899	T	0.37776	-0.9691	10	0.87932	D	0	-3.404	3.6048	0.08038	0.0:0.2094:0.0:0.7906	.	12;12;12	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	Y	12;12;12;12;9;11	ENSP00000364101:N12Y;ENSP00000333394:N12Y;ENSP00000397188:N12Y;ENSP00000420895:N12Y;ENSP00000421161:N9Y;ENSP00000423164:N11Y	ENSP00000333394:N12Y	N	-	1	0	FAM104B	55202373	0.757000	0.28394	0.006000	0.13384	0.126000	0.20510	0.119000	0.15626	0.181000	0.19994	0.314000	0.21332	AAT	FAM104B-003	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056853.2		-	ENST00000477847.2	Missense_Mutation	SNP	X : 55185648 - 55185648 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	174	4
FKBP10	60681	broad.mit.edu	37	17	39969498	39969498	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:39969498G>A	ENST00000321562.4	+	1	316	c.212G>A	c.(211-213)gGc>gAc	p.G71D		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	71	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACTACAACGGCACTTTTGAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	122	119			NA	NA	17		NA											NA				39969498		2203	4300	6503	SO:0001583	missense			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756	60681	60681		EF-hand domain containing	18169	protein-coding gene	gene with protein product		607063	FK506 binding protein 10 (65 kDa)		NA	11071917, 18786928	Standard	NM_021939	NM_021939	NA	Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.212G>A	17.37:g.39969498G>A	ENSP00000317232:p.Gly71Asp	NA	Q7Z3R4|Q9H3N3|Q9H6N5|Q9UF89	37	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198927	0.94997	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.89681	-2.55;-2.55	5.54	5.54	0.83059	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.137803	0.47093	D	0.000242	D	0.97151	0.9069	H	0.98786	4.33	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98667	1.0686	10	0.87932	D	0	-15.809	19.0918	0.93229	0.0:0.0:1.0:0.0	.	71	Q96AY3	FKB10_HUMAN	D	71;11;71;71	ENSP00000408232:G11D;ENSP00000317232:G71D	ENSP00000269598:G71D	G	+	2	0	FKBP10	37223024	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.423000	0.73361	2.603000	0.88011	0.655000	0.94253	GGC	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257410.2		+	ENST00000321562.4	Missense_Mutation	SNP	17 : 39969498 - 39969498 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	904	8
FRG1	2483	broad.mit.edu	37	4	190874258	190874258	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:190874258G>A	ENST00000226798.4	+	4	517	c.295G>A	c.(295-297)Gct>Act	p.A99T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	99					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCAGTTTACGGCTGTCAAATT	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													12	12	12			NA	NA	4		NA											NA				190874258		2087	4206	6293	SO:0001583	missense			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536	2483	2483			3954	protein-coding gene	gene with protein product		601278			NA	8733123	Standard	NM_004477	XM_005262880	NA	Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.295G>A	4.37:g.190874258G>A	ENSP00000226798:p.Ala99Thr	NA	A8K775	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.192157	0.78902	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.49432	1.88;0.78	3.71	3.71	0.42584	Actin cross-linking (1);	0.150032	0.64402	D	0.000015	T	0.71022	0.3291	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.77281	-0.2646	10	0.62326	D	0.03	-10.7291	13.8593	0.63550	0.0:0.0:1.0:0.0	.	99	Q14331	FRG1_HUMAN	T	99;36	ENSP00000226798:A99T;ENSP00000435943:A36T	ENSP00000226798:A99T	A	+	1	0	FRG1	191111252	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.872000	0.92352	2.022000	0.59522	0.632000	0.83419	GCT	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359622.4		+	ENST00000226798.4	Missense_Mutation	SNP	4 : 190874258 - 190874258 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	242	9
GPR156	165829	broad.mit.edu	37	3	119886517	119886517	+	Missense_Mutation	SNP	G	G	A	rs143524747	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:119886517G>A	ENST00000464295.1	-	10	2252	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	GPR156_ENST00000461057.1_Missense_Mutation_p.R599W|GPR156_ENST00000315843.3_Missense_Mutation_p.R603W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	603	Poly-Arg.					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R603W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGCTGCCCGCCTTCTCCTC	0.592		NA											G	5	0.0023	NA	NA	2184	NA	0.9999	,	,	NA	6e-04	0.01	NA	NA	0.0023	0.9813	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)						G	TRP/ARG,TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	34	36	35		1795,1807	2.2	0.4	3	dbSNP_134	35	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	GPR156	NM_001168271.1,NM_153002.2	101,101	0,16,6487	AA,AG,GG	NA	0.1163,0.1362,0.123	probably-damaging,probably-damaging	599/811,603/815	119886517	16,12990	2203	4300	6503	SO:0001583	missense			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697	165829	165829		GPCR / Class C : Orphans	20844	protein-coding gene	gene with protein product		610464			NA	12591167	Standard	NM_153002	NM_153002	NA	Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1807C>T	3.37:g.119886517G>A	ENSP00000417261:p.Arg603Trp	NA	Q14CM1|Q86SN6	37	CCDS2997.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	13.65	2.299061	0.40694	0.001362	0.001163	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.58210	0.35;0.35;0.38	5.07	2.19	0.27852	.	0.100557	0.43416	D	0.000577	T	0.43986	0.1272	L	0.36672	1.1	0.36916	D	0.891145	D;D	0.89917	1.0;1.0	P;P	0.61003	0.882;0.882	T	0.50575	-0.8812	9	.	.	.	-6.335	5.9095	0.19020	0.0732:0.1276:0.6392:0.1599	.	599;603	E9PFZ4;Q8NFN8	.;GP156_HUMAN	W	603;603;599	ENSP00000417261:R603W;ENSP00000324553:R603W;ENSP00000418758:R599W	.	R	-	1	2	GPR156	121369207	0.238000	0.23825	0.390000	0.26220	0.037000	0.13140	1.415000	0.34748	0.271000	0.22005	0.557000	0.71058	CGG	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355139.1		-	ENST00000464295.1	Missense_Mutation	SNP	3 : 119886517 - 119886517 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	265	22
HDLBP	3069	broad.mit.edu	37	2	242189325	242189325	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:242189325G>A	ENST00000391975.1	-	12	1670	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000310931.4_Silent_p.I481I	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	481	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTCGATGCGGATCAAATTGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													204	156	173			NA	NA	2		NA											NA				242189325		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	3069	3069			4857	protein-coding gene	gene with protein product		142695	vigilin	VGL	NA	1318310, 8390966	Standard	NM_203346	NM_005336	NA	Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1443C>T	2.37:g.242189325G>A		NA	Q53QU2|Q9UCY3	37	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524353	0.27299	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.76	1.91	0.25777	.	.	.	.	.	T	0.56992	0.2023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47947	-0.9077	4	.	.	.	-25.3058	8.197	0.31402	0.1831:0.1146:0.7023:0.0	.	.	.	.	S	290	.	.	P	-	1	0	HDLBP	241837998	1.000000	0.71417	0.846000	0.33378	0.958000	0.62258	3.394000	0.52551	0.140000	0.18849	-0.136000	0.14681	CCG	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257245.5		-	ENST00000391975.1	Silent	SNP	2 : 242189325 - 242189325 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	599	32
HLA-DMB	3109	broad.mit.edu	37	6	32906460	32906460	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:32906460C>T	ENST00000418107.2	-	2	600		c.e2+1		XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|HLA-DMB_ENST00000416244.2_Splice_Site	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	NA					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTCTCCTCACGTGTCCTGTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	106	105			NA	NA	6		NA											NA				32906460		1510	2708	4218	SO:0001630	splice_region_variant				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574	3109	3109		Histocompatibility complex, Immunoglobulin superfamily / C1-set domain containing	4935	protein-coding gene	gene with protein product		142856			NA	1922365	Standard	NM_002118	NM_002118	NA	Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.337+1G>A	6.37:g.32906460C>T		NA	O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	37	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169133	0.57584	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000414017;ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.823	0.63333	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-BPG181M17.5;HLA-DMB	33014438	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	2.081000	0.41596	2.631000	0.89168	0.637000	0.83480	.	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076340.2	Intron	-	ENST00000418107.2	Splice_Site	SNP	6 : 32906460 - 32906460 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	283	7
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	396	26
KRTAP1-5	83895	broad.mit.edu	37	17	39183129	39183129	+	Silent	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:39183129A>G	ENST00000361883.5	-	1	325	c.279T>C	c.(277-279)acT>acC	p.T93T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	93	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCCACAGCCAGTTCCGCAGG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	28	26			NA	NA	17		NA											NA				39183129		2076	4218	6294	SO:0001819	synonymous_variant			AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852	83895	83895		Keratin associated proteins	16777	protein-coding gene	gene with protein product		608822			NA	11279113	Standard		NM_031957	NA	Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.279T>C	17.37:g.39183129A>G		NA	A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	37	CCDS42321.1																																																																																			KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257691.1		-	ENST00000361883.5	Silent	SNP	17 : 39183129 - 39183129 G PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	163	5
LILRB4	11006	broad.mit.edu	37	19	55179374	55179374	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:55179374C>T	ENST00000391736.1	+	14	1566	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LILRB4_ENST00000391733.3_Silent_p.S418S|LILRB4_ENST00000270452.2_Silent_p.S417S|LILRB4_ENST00000430952.2_Silent_p.S416S|LILRB4_ENST00000391734.3_Silent_p.S364S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	417						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCTGCACAGCTTTACCCTCA	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	95	93			NA	NA	19		NA											NA				55179374		2203	4300	6503	SO:0001819	synonymous_variant			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818	NA	11006		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6608	protein-coding gene	gene with protein product		604821			NA	9151699, 9079806	Standard		XM_005277050	NA	Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1251C>T	19.37:g.55179374C>T		NA	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	37	CCDS12902.1																																																																																			LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141127.3		+	ENST00000391736.1	Silent	SNP	19 : 55179374 - 55179374 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	417	10
MAU2	23383	broad.mit.edu	37	19	19452209	19452209	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:19452209C>T	ENST00000392313.6	+	7	907	c.728C>T	c.(727-729)gCc>gTc	p.A243V	MAU2_ENST00000262815.8_Missense_Mutation_p.A243V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	NA					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TATCTGGATGCCGGGCAGGTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	50	49			NA	NA	19		NA											NA				19452209		2176	4270	6446	SO:0001583	missense			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933	23383	23383			29140	protein-coding gene	gene with protein product	sister chromatid cohesion 4	614560	KIAA0892, MAU2 chromatid cohesion factor homolog (C. elegans)	KIAA0892	NA	10048485	Standard	NM_015329	NM_015329	NA	Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.728C>T	19.37:g.19452209C>T	ENSP00000376127:p.Ala243Val	NA	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491074	0.26774	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	N	0.16903	0.455	0.80722	D	1	B	0.26935	0.164	B	0.30943	0.122	T	0.34850	-0.9812	9	0.28530	T	0.3	.	17.1001	0.86647	0.0:1.0:0.0:0.0	.	243	Q9Y6X3	SCC4_HUMAN	V	243	.	ENSP00000262815:A243V	A	+	2	0	MAU2	19313209	1.000000	0.71417	0.873000	0.34254	0.499000	0.33736	7.610000	0.82949	2.462000	0.83206	0.561000	0.74099	GCC	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316748.6		+	ENST00000392313.6	Missense_Mutation	SNP	19 : 19452209 - 19452209 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	138	4
NAPSA	9476	broad.mit.edu	37	19	50861863	50861863	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:50861863G>A	ENST00000253719.2	-	9	1418	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	404					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGCTCCGCGAGTGCGAGCG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	19		NA											NA				50861863		2195	4291	6486	SO:0001583	missense			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400	9476	9476			13395	protein-coding gene	gene with protein product	kidney-derived aspartic protease-like protein	605631			NA		Standard	NM_004851	NM_004851	NA	Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1210C>T	19.37:g.50861863G>A	ENSP00000253719:p.Arg404Cys	NA	Q8WWD9	37	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887283	0.52014	.	.	ENSG00000131400	ENST00000253719	T	0.52983	0.64	3.38	2.31	0.28768	.	0.766391	0.11657	N	0.542216	T	0.39886	0.1095	L	0.38175	1.15	0.09310	N	1	D	0.56968	0.978	P	0.44477	0.451	T	0.20672	-1.0268	10	0.72032	D	0.01	.	9.1465	0.36937	0.0:0.2257:0.7743:0.0	.	404	O96009	NAPSA_HUMAN	C	404	ENSP00000253719:R404C	ENSP00000253719:R404C	R	-	1	0	NAPSA	55553675	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	1.090000	0.30902	0.688000	0.31529	-0.463000	0.05309	CGC	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464714.1		-	ENST00000253719.2	Missense_Mutation	SNP	19 : 50861863 - 50861863 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	117	7
NELFE	7936	broad.mit.edu	37	6	31923047	31923047	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:31923047G>A	ENST00000375429.3	-	5	541	c.315C>T	c.(313-315)ccC>ccT	p.P105P	NELFE_ENST00000375425.5_Silent_p.P112P|NELFE_ENST00000444811.2_Silent_p.P105P	NM_002904.5	NP_002895.3			negative elongation factor complex member E	NA											NA						GCTGGAAAGTGGGGACTGGTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	121	123			NA	NA	6		NA											NA				31923047		1511	2709	4220	SO:0001819	synonymous_variant			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356	7936	7936		RNA binding motif (RRM) containing	13974	protein-coding gene	gene with protein product		154040	RD RNA-binding protein, RD RNA binding protein	RDBP	NA		Standard		XM_006715205	NA	Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.315C>T	6.37:g.31923047G>A		NA		37	CCDS4730.1																																																																																			NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076047.4		-	ENST00000375429.3	Silent	SNP	6 : 31923047 - 31923047 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	531	23
OVOL1	5017	broad.mit.edu	37	11	65554913	65554913	+	Silent	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:65554913C>G	ENST00000335987.3	+	1	421	c.69C>G	c.(67-69)ccC>ccG	p.P23P		NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	23					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCGAGCTCCCCGACGAGGAGC	0.721		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	29	29			NA	NA	11		NA											NA				65554913		2192	4284	6476	SO:0001819	synonymous_variant			BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818	5017	5017		Zinc fingers, C2H2-type	8525	protein-coding gene	gene with protein product		602313	ovo (Drosophila) homolog-like 1, ovo-like 1(Drosophila)		NA	9383297	Standard	NM_004561	NM_004561	NA	Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.69C>G	11.37:g.65554913C>G		NA	Q6PCB1	37	CCDS8112.1																																																																																			OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390690.1		+	ENST00000335987.3	Silent	SNP	11 : 65554913 - 65554913 G PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	39	5
OXSM	54995	broad.mit.edu	37	3	25832597	25832597	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:25832597G>T	ENST00000280701.3	+	2	185	c.86G>T	c.(85-87)aGg>aTg	p.R29M	OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Missense_Mutation_p.R29M	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	29					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGAAGTAAAAGGAAGTTTTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	128	129			NA	NA	3		NA											NA				25832597		2203	4300	6503	SO:0001583	missense			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	54995	54995	2.3.1.41		26063	protein-coding gene	gene with protein product	beta-ketoacyl synthase	610324			NA	12477932	Standard	NM_017897	NM_017897	NA	Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.86G>T	3.37:g.25832597G>T	ENSP00000280701:p.Arg29Met	NA		37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	2.156	-0.393253	0.04899	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	3.7	0.885	0.19188	.	1.235100	0.05357	N	0.533001	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;B	0.41848	0.763;0.327	B;B	0.43360	0.417;0.087	T	0.20505	-1.0273	9	0.72032	D	0.01	-0.3908	4.2462	0.10672	0.3102:0.1799:0.5099:0.0	.	29;29	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	M	29	.	ENSP00000280701:R29M	R	+	2	0	OXSM	25807601	0.003000	0.15002	0.002000	0.10522	0.296000	0.27459	0.424000	0.21330	0.548000	0.28955	0.561000	0.74099	AGG	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252876.2		+	ENST00000280701.3	Missense_Mutation	SNP	3 : 25832597 - 25832597 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	688	19
PDE10A	10846	broad.mit.edu	37	6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TACAGTGACCGCATGCTTCCA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(22;308 615 5753 12038 40624)							NA				1	Substitution - Missense(1)	breast(1)											172	134	147			NA	NA	6		NA											NA				165806202		2203	4300	6503	SO:0001583	missense			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	10846	10846	3.1.4.17	Phosphodiesterases	8772	protein-coding gene	gene with protein product		610652			NA	10373451	Standard		NM_001130690	NA	Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1559C>T	6.37:g.165806202G>A	ENSP00000355847:p.Ala520Val	NA	Q6FHX1|Q9HCP9|Q9NTV4|Q9Y5T1	37		.	.	.	.	.	.	.	.	.	.	G	24.6	4.554837	0.86231	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.88818	-2.43;-2.43	5.43	4.56	0.56223	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.047408	0.85682	D	0.000000	D	0.91509	0.7319	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.71674	0.989;0.998	P;P	0.59171	0.465;0.853	D	0.91174	0.4971	10	0.41790	T	0.15	.	15.5814	0.76445	0.0:0.0:0.8611:0.1389	.	530;520	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	520;548;530;520;519	ENSP00000355847:A520V;ENSP00000346435:A520V	ENSP00000341187:A530V	A	-	2	0	PDE10A	165726192	1.000000	0.71417	0.209000	0.23619	0.911000	0.54048	9.074000	0.93998	1.275000	0.44379	0.585000	0.79938	GCG	PDE10A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043031.1		-	ENST00000366882.1	Missense_Mutation	SNP	6 : 165806202 - 165806202 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	510	6
PDZRN4	29951	broad.mit.edu	37	12	41966629	41966629	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:41966629T>A	ENST00000298919.7	+	10	1656	c.1268T>A	c.(1267-1269)aTc>aAc	p.I423N	PDZRN4_ENST00000402685.2_Missense_Mutation_p.I683N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	683	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGTCAGAATATCATGCAGGCT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	91	94			NA	NA	12		NA											NA				41966629		2203	4300	6503	SO:0001583	missense			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966	29951	29951		RING-type (C3HC4) zinc fingers	30552	protein-coding gene	gene with protein product	similar to semaF cytoplasmic domain associated protein 3	609730			NA	11230166, 15010864	Standard	NM_013377	NM_013377	NA	Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000298919.7:c.1268T>A	12.37:g.41966629T>A	ENSP00000298919:p.Ile423Asn	NA	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	37		.	.	.	.	.	.	.	.	.	.	T	18.67	3.672946	0.67928	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.81499	-1.5;3.01;3.0	4.64	4.64	0.57946	.	0.151474	0.45126	D	0.000400	D	0.88880	0.6557	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	D	0.90408	0.4407	10	0.87932	D	0	-34.5847	14.7814	0.69769	0.0:0.0:0.0:1.0	.	683;423;425	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	683;425;423	ENSP00000384197:I683N;ENSP00000439990:I425N;ENSP00000298919:I423N	ENSP00000298919:I423N	I	+	2	0	PDZRN4	40252896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.049000	0.60858	0.528000	0.53228	ATC	PDZRN4-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000403703.1		+	ENST00000298919.7	Missense_Mutation	SNP	12 : 41966629 - 41966629 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	272	12
PTHLH	5744	broad.mit.edu	37	12	28116383	28116383	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:28116383C>T	ENST00000535992.1	-	3	768	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000545234.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	141					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCGAGTTCGCCGTTTTTTCTT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	153	160			NA	NA	12		NA											NA				28116383		2203	4300	6503	SO:0001583	missense				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494	5744	5744		Endogenous ligands	9607	protein-coding gene	gene with protein product	osteostatin, parathyroid hormone-like hormone preproprotein, parathyroid hormone-related protein preproprotein	168470			NA	2708388	Standard	NM_198965	NM_002820	NA	Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000535992.1:c.422G>A	12.37:g.28116383C>T	ENSP00000440613:p.Arg141Gln	NA	Q15251|Q6FH74	37	CCDS8715.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072552	0.93950	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963	D;D;D;D;D;D;D;D;D	0.92199	-2.88;-2.88;-2.88;-2.99;-2.99;-2.87;-2.87;-2.87;-2.85	5.63	5.63	0.86233	.	0.053580	0.64402	D	0.000001	D	0.95589	0.8566	M	0.66939	2.045	0.42178	D	0.991676	D	0.76494	0.999	D	0.72625	0.978	D	0.95866	0.8887	10	0.87932	D	0	-14.8282	18.6479	0.91418	0.0:1.0:0.0:0.0	.	141	P12272	PTHR_HUMAN	Q	141	ENSP00000379213:R141Q;ENSP00000441571:R141Q;ENSP00000441765:R141Q;ENSP00000441890:R141Q;ENSP00000346398:R141Q;ENSP00000201015:R141Q;ENSP00000440613:R141Q;ENSP00000379209:R141Q;ENSP00000444519:R141Q	ENSP00000201015:R141Q	R	-	2	0	PTHLH	28007650	1.000000	0.71417	0.887000	0.34795	0.994000	0.84299	4.979000	0.63806	2.657000	0.90304	0.591000	0.81541	CGG	PTHLH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402915.1		-	ENST00000535992.1	Missense_Mutation	SNP	12 : 28116383 - 28116383 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	502	31
RAD51AP1	10635	broad.mit.edu	37	12	4653066	4653066	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:4653066A>G	ENST00000544927.1	+	3	215	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K69E|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E			Q96B01	R51A1_HUMAN	RAD51 associated protein 1	69					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AACCCCTAAAAAAAGGTGAGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	44	45			NA	NA	12		NA											NA				4653066		2203	4299	6502	SO:0001583	missense			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247	10635	10635			16956	protein-coding gene	gene with protein product		603070			NA	9396801	Standard	NM_006479	NM_001130862	NA	Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.205A>G	12.37:g.4653066A>G	ENSP00000446296:p.Lys69Glu	NA	A8K7D3|O43403|Q7Z779	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.02|15.02	2.708549|2.708549	0.48517|0.48517	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	T;T;T;T|T	0.32988|0.34072	1.43;1.43;1.43;1.43|1.38	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.120167|0.120167	0.51477|0.51477	D|N	0.000083|0.000083	T|T	0.45054|0.45054	0.1323|0.1323	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.994;0.997|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|8	0.52906|0.20046	T|T	0.07|0.44	-19.6144|-19.6144	7.6299|7.6299	0.28232|0.28232	0.9038:0.0:0.0962:0.0|0.9038:0.0:0.0962:0.0	.|.	69;69|.	Q96B01;Q96B01-2|.	R51A1_HUMAN;.|.	E|R	69|63	ENSP00000323750:K69E;ENSP00000228843:K69E;ENSP00000309479:K69E;ENSP00000446296:K69E|ENSP00000444769:K63R	ENSP00000228843:K69E|ENSP00000444769:K63R	K|K	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4523327|4523327	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	3.552000|3.552000	0.53705|0.53705	1.884000|1.884000	0.54569|0.54569	0.477000|0.477000	0.44152|0.44152	AAA|AAA	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399208.1		+	ENST00000544927.1	Missense_Mutation	SNP	12 : 4653066 - 4653066 G PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	245	5
RADIL	55698	broad.mit.edu	37	7	4917411	4917411	+	Silent	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:4917411G>A	ENST00000399583.3	-	2	547	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RADIL_ENST00000536091.1_Silent_p.G120G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	120	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCCAGCATCGCCGGCTTGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	50	48			NA	NA	7		NA											NA				4917411		2013	4168	6181	SO:0001819	synonymous_variant			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927	55698	55698			22226	protein-coding gene	gene with protein product		611491			NA	16051602, 17704304	Standard	NM_018059	NM_018059	NA	Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.360C>T	7.37:g.4917411G>A		NA	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	37	CCDS43544.1																																																																																			RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323769.2		-	ENST00000399583.3	Silent	SNP	7 : 4917411 - 4917411 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	447	25
RPTOR	57521	broad.mit.edu	37	17	78923328	78923328	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:78923328C>G	ENST00000306801.3	+	28	3713	c.3351C>G	c.(3349-3351)gaC>gaG	p.D1117E	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1117					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCTCTCGGACATGCTGCCAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	139	141			NA	NA	17		NA											NA				78923328		2203	4300	6503	SO:0001583	missense				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564	57521	57521		WD repeat domain containing	30287	protein-coding gene	gene with protein product	regulatory associated protein of mTOR	607130			NA	10718198, 12150926	Standard	NM_020761	NM_001163034	NA	Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3351C>G	17.37:g.78923328C>G	ENSP00000307272:p.Asp1117Glu	NA	B2RN36|Q8N4V9|Q8TB32|Q9P2P3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862663	0.32884	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.48836	0.82;0.8	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	L	0.39566	1.225	0.80722	D	1	D;B	0.61697	0.99;0.031	D;B	0.73380	0.98;0.01	T	0.52079	-0.8623	10	0.33940	T	0.23	.	11.2536	0.49041	0.0:0.9153:0.0:0.0847	.	959;1117	F5H7J5;Q8N122	.;RPTOR_HUMAN	E	1117;959	ENSP00000307272:D1117E;ENSP00000442479:D959E	ENSP00000307272:D1117E	D	+	3	2	RPTOR	76537923	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.572000	0.60886	2.182000	0.69389	0.462000	0.41574	GAC	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438125.1		+	ENST00000306801.3	Missense_Mutation	SNP	17 : 78923328 - 78923328 G PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	767	43
RYR1	6261	broad.mit.edu	37	19	38958285	38958285	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:38958285C>T	ENST00000355481.4	+	25	3345	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1072C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1072	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1072C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGACCGGGTGCGCATCTTCCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											103	97	99			NA	NA	19		NA											NA				38958285		2203	4300	6503	SO:0001583	missense			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.3214C>T	19.37:g.38958285C>T	ENSP00000347667:p.Arg1072Cys	NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1	.	.	.	.	.	.	.	.	.	.	c	11.60	1.686114	0.29962	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97688	-4.49;-4.49;-4.49	2.92	2.92	0.33932	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000016	D	0.98604	0.9533	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99053	1.0828	10	0.87932	D	0	.	14.736	0.69416	0.0:1.0:0.0:0.0	.	1072;1072	P21817-2;P21817	.;RYR1_HUMAN	C	1072	ENSP00000352608:R1072C;ENSP00000347667:R1072C;ENSP00000354254:R1072C	ENSP00000347667:R1072C	R	+	1	0	RYR1	43650125	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	5.533000	0.67160	1.966000	0.57179	0.154000	0.16183	CGC	RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Missense_Mutation	SNP	19 : 38958285 - 38958285 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	609	25
SLC18A3	6572	broad.mit.edu	37	10	50819671	50819671	+	Silent	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											64	61	62			NA	NA	10		NA											NA				50819671		2203	4300	6503	SO:0001819	synonymous_variant			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714	6572	6572		Solute carriers	10936	protein-coding gene	gene with protein product		600336			NA	8071310	Standard	NM_003055	NM_003055	NA	Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.885C>T	10.37:g.50819671C>T		NA	B2R7S1	37	CCDS7231.1																																																																																			SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047995.1		+	ENST00000374115.3	Silent	SNP	10 : 50819671 - 50819671 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	314	6
SLC27A6	28965	broad.mit.edu	37	5	128326140	128326140	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:128326140C>T	ENST00000262462.4	+	4	1962	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	318					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTGTCGCTACCTTTGCAAACA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	91	92			NA	NA	5		NA											NA				128326140		2202	4299	6501	SO:0001583	missense			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396	28965	28965		Acyl-CoA synthetase family, Solute carriers	11000	protein-coding gene	gene with protein product	fatty-acid-Coenzyme A ligase, very long-chain 2	604196			NA	12556534, 10479480	Standard	NM_014031	XM_005271967	NA	Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.952C>T	5.37:g.128326140C>T	ENSP00000262462:p.Leu318Phe	NA	Q6IAM5|Q7Z6E6|Q86YF6	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001462	0.74818	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	H	0.98426	4.23	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.86944	0.2081	9	.	.	.	-0.0674	12.1173	0.53872	0.0:0.9204:0.0:0.0796	.	318	Q9Y2P4	S27A6_HUMAN	F	137;318;318;318	ENSP00000421759:L137F;ENSP00000262462:L318F;ENSP00000378684:L318F;ENSP00000421024:L318F	.	L	+	1	0	SLC27A6	128354039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.144000	0.42197	2.835000	0.97688	0.650000	0.86243	CTT	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250980.1		+	ENST00000262462.4	Missense_Mutation	SNP	5 : 128326140 - 128326140 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	202	8
SLC6A13	6540	broad.mit.edu	37	12	368930	368930	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:368930G>C	ENST00000436453.1	-	2	341	c.289C>G	c.(289-291)Cca>Gca	p.P97A	SLC6A13_ENST00000445055.2_Intron|SLC6A13_ENST00000343164.4_Intron	NM_001243392.1	NP_001230321.1	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	0					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			tacatctatgGGACTCCCCAG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379	6540	6540		Solute carriers	11046	protein-coding gene	gene with protein product	GABA transporter 2	615097	solute carrier family 6 (neurotransmitter transporter, GABA), member 13		NA		Standard	NM_016615	NM_001243392	NA	Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000436453.1:c.289C>G	12.37:g.368930G>C	ENSP00000389316:p.Pro97Ala	NA	Q8TCC2	37	CCDS58198.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515535	0.44763	.	.	ENSG00000010379	ENST00000436453	T	0.57907	0.37	3.91	3.91	0.45181	.	.	.	.	.	T	0.40956	0.1138	.	.	.	0.25397	N	0.988474	P	0.34522	0.455	B	0.27076	0.076	T	0.41124	-0.9526	8	0.87932	D	0	.	11.7027	0.51579	0.0:0.0:1.0:0.0	.	97	Q8WW56	.	A	97	ENSP00000389316:P97A	ENSP00000389316:P97A	P	-	1	0	SLC6A13	239191	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.389000	0.07342	2.474000	0.83562	0.467000	0.42956	CCA	SLC6A13-002	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397810.1		-	ENST00000436453.1	Missense_Mutation	SNP	12 : 368930 - 368930 C PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	84	8
SPATA31D1	389763	broad.mit.edu	37	9	84607354	84607354	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:84607354C>G	ENST00000344803.2	+	4	2016	c.1969C>G	c.(1969-1971)Cct>Gct	p.P657A		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA											NA						AGCTCCCAATCCTGAATTGGT	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	96	96			NA	NA	9		NA											NA				84607354		1853	4099	5952	SO:0001583	missense				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929	389763	389763			37283	protein-coding gene	gene with protein product			family with sequence similarity 75, member D1	FAM75D1	NA		Standard	NM_001001670	NM_001001670	NA	Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1969C>G	9.37:g.84607354C>G	ENSP00000341988:p.Pro657Ala	NA		37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.068	-1.208708	0.01568	.	.	ENSG00000214929	ENST00000344803	T	0.06687	3.27	3.36	-6.71	0.01760	.	2.901690	0.01128	N	0.005932	T	0.07503	0.0189	L	0.42245	1.32	0.09310	N	1	B	0.28713	0.22	B	0.38225	0.268	T	0.37753	-0.9692	10	0.12430	T	0.62	2.2681	0.5365	0.00638	0.3571:0.186:0.1181:0.3388	.	657	Q6ZQQ2	F75D1_HUMAN	A	657	ENSP00000341988:P657A	ENSP00000341988:P657A	P	+	1	0	FAM75D1	83797174	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.455000	0.02379	-2.568000	0.00469	-0.169000	0.13324	CCT	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402325.1		+	ENST00000344803.2	Missense_Mutation	SNP	9 : 84607354 - 84607354 G PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	300	4
THBS1	7057	broad.mit.edu	37	15	39881506	39881506	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr15:39881506G>A	ENST00000260356.5	+	12	2042	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	626	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CGCTTCACCGGCTCACAGCCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	79	77			NA	NA	15		NA											NA				39881506		2200	4297	6497	SO:0001583	missense				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801	7057	7057			11785	protein-coding gene	gene with protein product	thrombospondin-1p180	188060			NA	2341158, 2335352	Standard	NM_003246	NM_003246	NA	Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1877G>A	15.37:g.39881506G>A	ENSP00000260356:p.Gly626Asp	NA	A8K6H4|B9EGH6|Q15667	37	CCDS32194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.280128|5.280128	0.95489|0.95489	.|.	.|.	ENSG00000137801|ENSG00000137801	ENST00000397593|ENST00000260356	.|T	.|0.80909	.|-1.43	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Epidermal growth factor-like (1);	.|0.000000	.|0.36778	.|N	.|0.002402	D|D	0.93054|0.93054	0.7789|0.7789	H|H	0.94925|0.94925	3.6|3.6	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.94423|0.94423	0.7642|0.7642	6|10	0.87932|0.87932	D|D	0|0	-36.3388|-36.3388	19.6845|19.6845	0.95976|0.95976	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|541;626	.|B4E3J7;P07996	.|.;TSP1_HUMAN	T|D	60|626	.|ENSP00000260356:G626D	ENSP00000380721:A60T|ENSP00000260356:G626D	A|G	+|+	1|2	0|0	THBS1|THBS1	37668798|37668798	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.725000|0.725000	0.41563|0.41563	9.869000|9.869000	0.99810|0.99810	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCT|GGC	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257831.2		+	ENST00000260356.5	Missense_Mutation	SNP	15 : 39881506 - 39881506 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	365	5
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:129370592T>A	ENST00000432054.2	-	4	1673	c.722A>T	c.(721-723)cAg>cTg	p.Q241L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000393238.3_Missense_Mutation_p.Q565L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L			O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	3		NA											NA				129370592		2203	4300	6503	SO:0001583	missense			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765	23023	23023		Transmembrane and coiled-coil domain containing	29116	protein-coding gene	gene with protein product			transmembrane and coiled-coil domains 1		NA	9872452	Standard	NM_015008	NR_033361	NA	Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000432054.2:c.722A>T	3.37:g.129370592T>A	ENSP00000404711:p.Gln241Leu	NA	Q68E06|Q8IXM8	37		.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG	TMCC1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000356323.4		-	ENST00000432054.2	Missense_Mutation	SNP	3 : 129370592 - 129370592 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	359	5
TOM1L2	146691	broad.mit.edu	37	17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:17766051C>T	ENST00000535933.1	-	10	1143	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R399H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H|TOM1L2_ENST00000581396.1_Missense_Mutation_p.R349H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H			Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	399					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(192;2505 2909 14455 25269)							NA				0													187	196	193			NA	NA	17		NA											NA				17766051		2203	4300	6503	SO:0001583	missense			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662	146691	146691			11984	protein-coding gene	gene with protein product		615519	target of myb1 (chicken) homolog-like 1		NA	10036180	Standard		NM_001082968	NA	Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000535933.1:c.1037G>A	17.37:g.17766051C>T	ENSP00000438621:p.Arg346His	NA	B7Z7F4|Q86V61|Q8TDE7|Q96M88	37		.	.	.	.	.	.	.	.	.	.	C	24.7	4.564552	0.86439	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.50277	1.8;1.78;1.74;1.73;0.75	5.88	1.72	0.24424	.	0.216900	0.49305	N	0.000150	T	0.55497	0.1924	L	0.48362	1.52	0.47698	D	0.999497	B;P;D;D;B;B	0.89917	0.066;0.698;1.0;0.999;0.049;0.082	B;B;D;D;B;B	0.71414	0.01;0.098;0.973;0.923;0.006;0.014	T	0.45760	-0.9239	10	0.32370	T	0.25	-7.2771	10.4987	0.44794	0.0:0.7416:0.0:0.2584	.	301;251;346;354;399;349	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	H	399;349;354;346;301;251	ENSP00000368818:R399H;ENSP00000379088:R354H;ENSP00000438621:R346H;ENSP00000437655:R301H;ENSP00000445188:R251H	ENSP00000312860:R349H	R	-	2	0	TOM1L2	17706776	0.996000	0.38824	0.965000	0.40720	0.969000	0.65631	2.836000	0.48183	0.116000	0.18110	0.655000	0.94253	CGC	TOM1L2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000443248.1		-	ENST00000535933.1	Missense_Mutation	SNP	17 : 17766051 - 17766051 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	1091	9
TRPC3	7222	broad.mit.edu	37	4	122835976	122835976	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:122835976G>T	ENST00000264811.5	-	3	1499	c.1081C>A	c.(1081-1083)Cca>Aca	p.P361T	TRPC3_ENST00000379645.3_Missense_Mutation_p.P434T|TRPC3_ENST00000513531.1_Intron	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	349					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCAGGAATGGAAGGCCCAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	88	97			NA	NA	4		NA											NA				122835976		2203	4300	6503	SO:0001583	missense			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741	7222	7222		Voltage-gated ion channels / Transient receptor potential cation channels	12335	protein-coding gene	gene with protein product		602345			NA	8646775, 16382100	Standard	NM_003305	NM_003305	NA	Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000264811.5:c.1081C>A	4.37:g.122835976G>T	ENSP00000264811:p.Pro361Thr	NA	O00593|Q15660|Q52M35	37	CCDS3725.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778659	0.90195	.	.	ENSG00000138741	ENST00000264811;ENST00000379645	T;T	0.76578	-1.03;-1.03	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.91432	0.7296	M	0.93638	3.44	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.72982	0.979;0.964	D	0.93272	0.6652	10	0.87932	D	0	-29.0106	19.3937	0.94596	0.0:0.0:1.0:0.0	.	349;434	Q13507;Q5G1L5	TRPC3_HUMAN;.	T	361;434	ENSP00000264811:P361T;ENSP00000368966:P434T	ENSP00000264811:P361T	P	-	1	0	TRPC3	123055426	1.000000	0.71417	0.939000	0.37840	0.922000	0.55478	9.753000	0.98904	2.586000	0.87340	0.655000	0.94253	CCA	TRPC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256709.1		-	ENST00000264811.5	Missense_Mutation	SNP	4 : 122835976 - 122835976 T PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	192	4
ZNF318	24149	broad.mit.edu	37	6	43307934	43307934	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:43307934G>C	ENST00000361428.2	-	10	3879	c.3802C>G	c.(3802-3804)Cca>Gca	p.P1268A	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1268	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGATGTTGGTGATTCCTTC	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	147	147			NA	NA	6		NA											NA				43307934		2203	4300	6503	SO:0001583	missense			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467	24149	24149		Zinc fingers, C2H2-type	13578	protein-coding gene	gene with protein product					NA	10873617	Standard	NM_014345	NM_014345	NA	Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3802C>G	6.37:g.43307934G>C	ENSP00000354964:p.Pro1268Ala	NA	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993512	0.19043	.	.	ENSG00000171467	ENST00000361428	T	0.46063	0.88	5.16	3.37	0.38596	.	0.468764	0.19877	N	0.104057	T	0.12305	0.0299	N	0.19112	0.55	0.19300	N	0.999976	B	0.33171	0.4	B	0.33960	0.173	T	0.07654	-1.0761	10	0.56958	D	0.05	-0.0185	8.6041	0.33762	0.1777:0.0:0.8223:0.0	.	1268	Q5VUA4	ZN318_HUMAN	A	1268	ENSP00000354964:P1268A	ENSP00000354964:P1268A	P	-	1	0	ZNF318	43415912	0.336000	0.24757	0.270000	0.24601	0.907000	0.53573	0.707000	0.25704	0.740000	0.32651	0.655000	0.94253	CCA	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040601.2		-	ENST00000361428.2	Missense_Mutation	SNP	6 : 43307934 - 43307934 C PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	816	19
ZNF747	65988	broad.mit.edu	37	16	30544358	30544358	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:30544358G>A	ENST00000569360.1	-	3	627	c.455C>T	c.(454-456)gCc>gTc	p.A152V	ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000535210.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V			Q9BV97	ZN747_HUMAN	zinc finger protein 747	40					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CTCCAACCCGGCAAAGGGGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	40	39			NA	NA	16		NA											NA				30544358		2197	4300	6497	SO:0001583	missense			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955	65988	65988		Zinc fingers, C2H2-type, -	28350	protein-coding gene	gene with protein product					NA	10493829	Standard	NM_023931	NM_023931	NA	Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000569360.1:c.455C>T	16.37:g.30544358G>A	ENSP00000454241:p.Ala152Val	NA	A8K827|B7WNU3|Q59FB4|Q96NW0	37		.	.	.	.	.	.	.	.	.	.	G	7.985	0.751947	0.15778	.	.	ENSG00000169955	ENST00000535210	T	0.04970	3.52	2.73	1.74	0.24563	.	.	.	.	.	T	0.06917	0.0176	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41179	-0.9523	6	0.28530	T	0.3	.	9.4028	0.38442	0.0:0.2209:0.7791:0.0	.	.	.	.	V	152	ENSP00000441702:A152V	ENSP00000441702:A152V	A	-	2	0	ZNF747	30451859	0.030000	0.19436	0.001000	0.08648	0.004000	0.04260	0.757000	0.26433	0.480000	0.27534	-0.802000	0.03209	GCC	ZNF747-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NA	protein_coding	OTTHUMT00000434393.1		-	ENST00000569360.1	Missense_Mutation	SNP	16 : 30544358 - 30544358 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	184	6
ZNF763	284390	broad.mit.edu	37	19	12088187	12088187	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:12088187G>A	ENST00000358987.3	+	3	259	c.132G>A	c.(130-132)ggG>ggA	p.G44G	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000343949.5_Splice_Site_p.G47G|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000538752.1_Splice_Site_p.G64G|ZNF763_ENST00000590798.1_Splice_Site_p.G64G					zinc finger protein 763	NA										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GTATTTTAGGGAAAAAGTGGA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	86	88	88		141	-1.6	0	19		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	ZNF763	NM_001012753.1		0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154		47/398	12088187	2,13004	2203	4300	6503	SO:0001630	splice_region_variant			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054	284390	284390		Zinc fingers, C2H2-type, -	27614	protein-coding gene	gene with protein product					NA		Standard	NM_001012753	NM_001012753	NA	Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.131-1G>A	19.37:g.12088187G>A		NA		37																																																																																				ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000344158.1	Silent	+	ENST00000358987.3	Splice_Site	SNP	19 : 12088187 - 12088187 A PAAD-TCGA-3A-A9I7-Tumor-SM-5W7VE	437	5
