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
AHNAK2	113146	broad.mit.edu	37	14	105412376	105412376	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:105412376C>T	ENST00000557457.1	-	2	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.A3138T			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCTTTGGCAGTCACATCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													169	135	146			NA	NA	14		NA											NA				105412376		1908	4076	5984	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.220-5061G>A	14.37:g.105412376C>T		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	N	1.596	-0.527716	0.04112	.	.	ENSG00000185567	ENST00000333244	T	0.00902	5.56	2.93	2.02	0.26589	.	.	.	.	.	T	0.00754	0.0025	N	0.25380	0.74	0.09310	N	1	B	0.33637	0.42	B	0.30782	0.12	T	0.49818	-0.8899	9	0.22109	T	0.4	.	5.5134	0.16894	0.0:0.837:0.0:0.163	.	3138	Q8IVF2	AHNK2_HUMAN	T	3138	ENSP00000353114:A3138T	ENSP00000353114:A3138T	A	-	1	0	AHNAK2	104483421	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-4.196000	0.00276	0.415000	0.25817	0.313000	0.20887	GCC	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105412376 - 105412376 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	2571	11
AKR7A2	8574	broad.mit.edu	37	1	19632583	19632583	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:19632583C>T	ENST00000235835.3	-	6	868	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	283					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCATATGCGGCCTGCAGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	76	77			NA	NA	1		NA											NA				19632583		2203	4300	6503	SO:0001583	missense			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371	8574	8574		Aldo-keto reductases	389	protein-coding gene	gene with protein product		603418			NA	9576847	Standard	NM_003689	NM_003689	NA	Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.847G>A	1.37:g.19632583C>T	ENSP00000235835:p.Ala283Thr	NA	O75749|Q5TG63	37	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	2.734	-0.263746	0.05754	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.04234	3.67;3.67	3.84	-4.86	0.03132	NADP-dependent oxidoreductase domain (3);	0.486606	0.22144	N	0.064003	T	0.02807	0.0084	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41963	-0.9479	10	0.20046	T	0.44	.	6.4401	0.21845	0.123:0.3475:0.0:0.5296	.	283	O43488	ARK72_HUMAN	T	283;238;145	ENSP00000235835:A283T;ENSP00000339084:A238T	ENSP00000235835:A283T	A	-	1	0	AKR7A2	19505170	0.010000	0.17322	0.001000	0.08648	0.017000	0.09413	0.315000	0.19451	-0.830000	0.04262	-1.010000	0.02471	GCA	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007165.2		-	ENST00000235835.3	Missense_Mutation	SNP	1 : 19632583 - 19632583 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	558	6
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	560	8
BOD1L1	259282	broad.mit.edu	37	4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197							DNA binding				NA						TCTATGATCGGCATGCTTTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	165	163			NA	NA	4		NA											NA				13604934		2203	4300	6503	SO:0001583	missense			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3590C>T	4.37:g.13604934G>A	ENSP00000040738:p.Ala1197Val	NA	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.151148	0.01700	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.54	1.31	0.21738	.	0.957388	0.08619	N	0.918700	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.29301	T	0.29	-0.096	5.5925	0.17309	0.2751:0.1489:0.576:0.0	.	1197	Q8NFC6	BOD1L_HUMAN	V	1197	ENSP00000040738:A1197V	ENSP00000040738:A1197V	A	-	2	0	BOD1L	13214032	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.533000	0.23082	0.296000	0.22592	-0.812000	0.03155	GCC	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Missense_Mutation	SNP	4 : 13604934 - 13604934 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	1107	7
CCR3	1232	broad.mit.edu	37	3	46307531	46307531	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:46307531C>T	ENST00000357422.2	+	4	1425	c.882C>T	c.(880-882)tgC>tgT	p.C294C	CCR3_ENST00000541018.1_Silent_p.C294C|CCR3_ENST00000395942.2_Silent_p.C294C|CCR3_ENST00000395940.2_Silent_p.C294C|CCR3_ENST00000545097.1_Silent_p.C315C			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	294					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACTCCCACTGCTGCATGAACC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	100	107			NA	NA	3		NA											NA				46307531		2203	4300	6503	SO:0001819	synonymous_variant			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625	1232	1232		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1604	protein-coding gene	gene with protein product		601268		CMKBR3	NA		Standard		NM_178328	NA	Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.882C>T	3.37:g.46307531C>T		NA	B3KVQ1|Q15748|Q2YDB9|Q86WD2|Q9ULY8	37	CCDS2738.1																																																																																			CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257380.2		+	ENST00000357422.2	Silent	SNP	3 : 46307531 - 46307531 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	365	5
CD163L1	283316	broad.mit.edu	37	12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:7559406C>T	ENST00000416109.2	-	5	857	c.839G>A	c.(838-840)cGc>cAc	p.R280H	CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H|CD163L1_ENST00000313599.3_Missense_Mutation_p.R270H	NM_174941.4	NP_777601.2	Q9NR16	C163B_HUMAN	CD163 molecule-like 1	270	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATACAGCGGTTAGTTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													209	186	194			NA	NA	12		NA											NA				7559406		2203	4300	6503	SO:0001583	missense			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675	283316	283316			30375	protein-coding gene	gene with protein product		606079	CD163 antigen-like 1		NA	11124526, 11086079	Standard	NM_174941	XM_005253348	NA	Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000416109.2:c.839G>A	12.37:g.7559406C>T	ENSP00000393474:p.Arg280His	NA	C9JHR7|Q6UWC2	37		.	.	.	.	.	.	.	.	.	.	C	10.37	1.331677	0.24167	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	1.88	-1.44	0.08856	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.24044	0.0582	L	0.37697	1.125	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.09377	0.004;0.004	T	0.21008	-1.0258	9	0.42905	T	0.14	.	5.8061	0.18440	0.0:0.3986:0.0:0.6014	.	280;270	E7EVK4;Q9NR16	.;C163B_HUMAN	H	270;280;270	ENSP00000315945:R270H;ENSP00000393474:R280H;ENSP00000379871:R270H	ENSP00000315945:R270H	R	-	2	0	CD163L1	7450673	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-4.189000	0.00277	-0.331000	0.08501	0.460000	0.39030	CGC	CD163L1-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399330.1		-	ENST00000416109.2	Missense_Mutation	SNP	12 : 7559406 - 7559406 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	676	30
CHD8	57680	broad.mit.edu	37	14	21868724	21868724	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:21868724C>T	ENST00000557364.1	-	23	4681	c.4418G>A	c.(4417-4419)cGt>cAt	p.R1473H	CHD8_ENST00000399982.2_Missense_Mutation_p.R1473H|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1194H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1473					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCAGTCATACGTCGCTTGAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	62			NA	NA	14		NA											NA				21868724		1859	4101	5960	SO:0001583	missense			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888	57680	57680			20153	protein-coding gene	gene with protein product		610528	helicase with SNF2 domain 1	HELSNF1	NA	10997877	Standard	NM_020920	NM_020920	NA	Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4418G>A	14.37:g.21868724C>T	ENSP00000451601:p.Arg1473His	NA	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421067	0.25639	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.83335	-1.71;-1.71;-1.71	4.92	4.92	0.64577	.	0.061161	0.64402	D	0.000003	T	0.66327	0.2778	N	0.11313	0.125	0.51012	D	0.999901	B;B	0.11235	0.001;0.004	B;B	0.11329	0.005;0.006	T	0.61202	-0.7110	10	0.22706	T	0.39	-8.9064	10.6212	0.45481	0.0:0.9113:0.0:0.0887	.	1473;1194	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	H	1194;1473;1193;1473	ENSP00000406288:R1194H;ENSP00000382863:R1473H;ENSP00000451601:R1473H	ENSP00000262707:R1193H	R	-	2	0	CHD8	20938564	0.947000	0.32204	1.000000	0.80357	0.974000	0.67602	2.058000	0.41374	2.546000	0.85860	0.650000	0.86243	CGT	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410436.1		-	ENST00000557364.1	Missense_Mutation	SNP	14 : 21868724 - 21868724 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	188	8
COPS4	51138	broad.mit.edu	37	4	83978424	83978424	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:83978424G>A	ENST00000509093.1	+	6	1356	c.578G>A	c.(577-579)cGt>cAt	p.R193H	COPS4_ENST00000503682.1_Missense_Mutation_p.R193H|COPS4_ENST00000511653.1_Missense_Mutation_p.R193H|COPS4_ENST00000264389.2_Missense_Mutation_p.R193H	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	193					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TGCTATGCACGTGTTCTTGAT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	67	68			NA	NA	4		NA											NA				83978424		2203	4300	6503	SO:0001583	missense			AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663	51138	51138			16702	protein-coding gene	gene with protein product			COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4, COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)		NA	9707402	Standard		NM_016129	NA	Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000509093.1:c.578G>A	4.37:g.83978424G>A	ENSP00000425976:p.Arg193His	NA	B3KN88|Q561W7|Q9NW31|Q9Y677	37	CCDS58909.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672433	0.88348	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.57107	0.47;0.59;0.65;0.42;0.55	5.57	4.73	0.59995	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.79784	0.991;0.721;0.981;0.993	T	0.79200	-0.1901	10	0.66056	D	0.02	-7.0725	14.2998	0.66339	0.0714:0.0:0.9286:0.0	.	193;193;193;193	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	H	193;193;81;193;193	ENSP00000425976:R193H;ENSP00000264389:R193H;ENSP00000425486:R81H;ENSP00000424791:R193H;ENSP00000424655:R193H	ENSP00000264389:R193H	R	+	2	0	COPS4	84197448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.370000	0.97159	1.355000	0.45865	0.467000	0.42956	CGT	COPS4-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363091.1		+	ENST00000509093.1	Missense_Mutation	SNP	4 : 83978424 - 83978424 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	346	9
CTNNA3	29119	broad.mit.edu	37	10	68940142	68940142	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:68940142C>T	ENST00000433211.2	-	7	1154	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R327Q|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R327Q	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	NA					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R327Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCGATAATCCGCTCTCGGTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	skin(2)											147	126	133			NA	NA	10		NA											NA				68940142		2203	4300	6503	SO:0001583	missense			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230	29119	29119			2511	protein-coding gene	gene with protein product		607667			NA	12596047, 11590244	Standard	NM_013266	XM_005269717	NA	Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.980G>A	10.37:g.68940142C>T	ENSP00000389714:p.Arg327Gln	NA	Q5VSR2|Q6P056	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199060	0.94997	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.38722	1.45;1.45;1.12	5.83	5.83	0.93111	.	0.000000	0.46442	D	0.000281	T	0.64811	0.2632	M	0.67700	2.07	0.49213	D	0.999767	D;D;D;D	0.89917	1.0;1.0;0.984;0.998	D;D;P;D	0.87578	0.998;0.998;0.889;0.992	T	0.61816	-0.6985	10	0.45353	T	0.12	-7.9917	18.8814	0.92357	0.0:1.0:0.0:0.0	.	327;327;327;327	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	Q	327	ENSP00000389714:R327Q;ENSP00000362849:R327Q;ENSP00000441444:R327Q	ENSP00000362849:R327Q	R	-	2	0	CTNNA3	68610148	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	6.079000	0.71291	2.753000	0.94483	0.585000	0.79938	CGG	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048282.2		-	ENST00000433211.2	Missense_Mutation	SNP	10 : 68940142 - 68940142 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	450	17
CTSG	1511	broad.mit.edu	37	14	25043976	25043976	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:25043976G>A	ENST00000216336.2	-	3	280	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	82	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTGTTTTCCCGTCTCTGGATA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	150	159			NA	NA	14		NA											NA				25043976		2203	4300	6503	SO:0001583	missense			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448	1511	1511		Cathepsins, Endogenous ligands	2532	protein-coding gene	gene with protein product		116830			NA	2569462	Standard	NM_001911	NM_001911	NA	Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.244C>T	14.37:g.25043976G>A	ENSP00000216336:p.Arg82Trp	NA	Q6IBJ6|Q9UCA5|Q9UCU6	37	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323852	0.60634	.	.	ENSG00000100448	ENST00000216336	D	0.89270	-2.49	5.14	-0.234	0.13074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.162600	0.03040	N	0.153196	D	0.90082	0.6902	L	0.42686	1.345	0.09310	N	1	D	0.53462	0.96	P	0.57324	0.818	T	0.77091	-0.2716	10	0.72032	D	0.01	.	6.4544	0.21922	0.1768:0.4321:0.3911:0.0	.	82	P08311	CATG_HUMAN	W	82	ENSP00000216336:R82W	ENSP00000216336:R82W	R	-	1	2	CTSG	24113816	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.555000	0.05999	-0.140000	0.11394	0.655000	0.94253	CGG	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276536.2		-	ENST00000216336.2	Missense_Mutation	SNP	14 : 25043976 - 25043976 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	491	16
DDX11	1663	broad.mit.edu	37	12	31256819	31256819	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:31256819C>G	ENST00000407793.2	+	27	3016	c.2765C>G	c.(2764-2766)cCg>cGg	p.P922R	DDX11_ENST00000542838.1_3'UTR|DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.P922R|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	922					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTGTCCTGCCCGCTGGAGACA	0.607		NA								Multiple Myeloma(12;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	72	71			NA	NA	12		NA											NA				31256819		2203	4300	6503	SO:0001583	missense			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573	1663	1663		DEAD-boxes	2736	protein-coding gene	gene with protein product	CHL1-like helicase homolog (S. cerevisiae)	601150	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11		NA		Standard	NM_030653	NM_030653	NA	Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2765C>G	12.37:g.31256819C>G	ENSP00000384703:p.Pro922Arg	NA	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	3.745	-0.052757	0.07362	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.73152	-0.72;-0.72	1.32	0.398	0.16319	.	.	.	.	.	T	0.44435	0.1293	N	0.08118	0	0.09310	N	0.999997	B	0.29232	0.238	B	0.27608	0.081	T	0.30416	-0.9979	9	0.41790	T	0.15	.	3.8887	0.09110	0.0:0.756:0.0:0.244	.	922	Q96FC9	DDX11_HUMAN	R	922	ENSP00000384703:P922R;ENSP00000440402:P922R	ENSP00000384703:P922R	P	+	2	0	DDX11	31148086	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-0.158000	0.10070	0.136000	0.18733	-1.250000	0.01514	CCG	DDX11-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399728.1		+	ENST00000407793.2	Missense_Mutation	SNP	12 : 31256819 - 31256819 G PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	354	13
DNAH5	1767	broad.mit.edu	37	5	13793653	13793653	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:13793653G>T	ENST00000265104.4	-	49	8299	c.8195C>A	c.(8194-8196)cCc>cAc	p.P2732H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2732	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTTCAGAGGGCAACGTGCA	0.468		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	135	134			NA	NA	5		NA											NA				13793653		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139	1767	1767		Axonemal dyneins	2950	protein-coding gene	gene with protein product	dynein heavy chain 5	603335	dynein, axonemal, heavy polypeptide 5		NA	9256245, 11788826	Standard	NM_001369	NM_001369	NA	Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8195C>A	5.37:g.13793653G>T	ENSP00000265104:p.Pro2732His	NA	Q92860|Q96L74|Q9H5S7|Q9HCG9	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075499	0.76415	.	.	ENSG00000039139	ENST00000265104	T	0.53857	0.6	5.88	5.88	0.94601	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91639	0.5325	10	0.87932	D	0	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	2732	Q8TE73	DYH5_HUMAN	H	2732	ENSP00000265104:P2732H	ENSP00000265104:P2732H	P	-	2	0	DNAH5	13846653	1.000000	0.71417	0.981000	0.43875	0.472000	0.32918	9.694000	0.98686	2.792000	0.96026	0.557000	0.71058	CCC	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207057.2		-	ENST00000265104.4	Missense_Mutation	SNP	5 : 13793653 - 13793653 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	548	15
DNMT3B	1789	broad.mit.edu	37	20	31385055	31385055	+	Silent	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:31385055G>C	ENST00000328111.2	+	14	1761	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	DNMT3B_ENST00000443239.3_Silent_p.V418V|DNMT3B_ENST00000353855.2_Silent_p.V460V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Silent_p.V460V|DNMT3B_ENST00000348286.2_Silent_p.V460V|DNMT3B_ENST00000456297.2_Silent_p.V384V|DNMT3B_ENST00000201963.3_Silent_p.V472V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	480	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTGCACTGTGTGCTGCGAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	103	103			NA	NA	20		NA											NA				31385055		2203	4300	6503	SO:0001819	synonymous_variant				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305	1789	1789			2979	protein-coding gene	gene with protein product		602900			NA	9662389, 10433969	Standard	NM_006892	NM_006892	NA	Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1440G>C	20.37:g.31385055G>C		NA	A2A2E2|E1P5M6|E1P5M7|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	37	CCDS13205.1																																																																																			DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078643.2		+	ENST00000328111.2	Silent	SNP	20 : 31385055 - 31385055 C PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	933	73
ENTPD8	377841	broad.mit.edu	37	9	140331454	140331454	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:140331454T>C	ENST00000344119.2	-	5	605	c.422A>G	c.(421-423)gAc>gGc	p.D141G	ENTPD8_ENST00000371506.2_Missense_Mutation_p.D141G|ENTPD8_ENST00000472938.1_Missense_Mutation_p.D141G	NM_198585.2	NP_940987.2	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	141						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCAAAGATGTCCCTGGCCTG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	56	54			NA	NA	9		NA											NA				140331454		2202	4298	6500	SO:0001583	missense			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833	377841	377841			24860	protein-coding gene	gene with protein product	GLSR2492				NA	12975309	Standard	NM_198585	NM_198585	NA	Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000344119.2:c.422A>G	9.37:g.140331454T>C	ENSP00000344089:p.Asp141Gly	NA	A2BG17|Q6UVZ0	37	CCDS7043.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941896	0.34283	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12039	2.72;2.72;2.72	4.07	-2.28	0.06826	.	1.335750	0.04809	N	0.434870	T	0.11452	0.0279	L	0.49455	1.56	0.18873	N	0.999981	B;B	0.34399	0.452;0.005	B;B	0.29862	0.108;0.021	T	0.30650	-0.9971	10	0.38643	T	0.18	0.6553	4.5654	0.12184	0.0:0.2689:0.3092:0.4219	.	141;141	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	G	141	ENSP00000344089:D141G;ENSP00000360561:D141G;ENSP00000420531:D141G	ENSP00000344089:D141G	D	-	2	0	ENTPD8	139451275	0.000000	0.05858	0.033000	0.17914	0.596000	0.36781	0.070000	0.14573	-0.340000	0.08388	0.459000	0.35465	GAC	ENTPD8-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254774.2		-	ENST00000344119.2	Missense_Mutation	SNP	9 : 140331454 - 140331454 C PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	333	12
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											412	337	362			NA	NA	1		NA											NA				152327955		2203	4300	6503	SO:0001819	synonymous_variant			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520	388698	388698		EF-hand domain containing	33276	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_001014342	NM_001014342	NA	Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A		NA	Q9H4U1	37	CCDS30861.1																																																																																			FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034018.5		-	ENST00000388718.5	Silent	SNP	1 : 152327955 - 152327955 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	2471	15
FREM1	158326	broad.mit.edu	37	9	14842569	14842569	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:14842569C>T	ENST00000380880.3	-	9	2266	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	FREM1_ENST00000380881.4_Missense_Mutation_p.V496M|FREM1_ENST00000422223.2_Missense_Mutation_p.V495M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	495					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.V496L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGGAAGACCACGAAGTCTTTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											123	126	125			NA	NA	9		NA											NA				14842569		2042	4192	6234	SO:0001583	missense			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946	158326	158326			23399	protein-coding gene	gene with protein product		608944	chromosome 9 open reading frame 154	C9orf154	NA	12838346, 15345741	Standard	NM_144966	NM_144966	NA	Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1483G>A	9.37:g.14842569C>T	ENSP00000370262:p.Val495Met	NA	Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549879	0.65311	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.46063	0.88;0.88;0.88	5.63	2.76	0.32466	.	0.122894	0.56097	D	0.000034	T	0.53142	0.1778	M	0.66939	2.045	0.39628	D	0.970137	D	0.76494	0.999	D	0.63957	0.92	T	0.54846	-0.8232	10	0.62326	D	0.03	-13.2093	5.4312	0.16454	0.0:0.5833:0.1427:0.274	.	495	Q5H8C1	FREM1_HUMAN	M	496;495;495	ENSP00000370263:V496M;ENSP00000412940:V495M;ENSP00000370262:V495M	ENSP00000370257:V498M	V	-	1	0	FREM1	14832569	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	1.080000	0.30779	0.847000	0.35167	0.655000	0.94253	GTG	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339474.2		-	ENST00000380880.3	Missense_Mutation	SNP	9 : 14842569 - 14842569 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	578	20
FTHL17	53940	broad.mit.edu	37	X	31089614	31089614	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:31089614C>T	ENST00000359202.3	-	1	556	c.457G>A	c.(457-459)Gtg>Atg	p.V153M		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	153	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGGTTGCTCACGTAGCCACCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	59	62			NA	NA	X		NA											NA				31089614		2202	4300	6502	SO:0001583	missense			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446	53940	53940			3987	protein-coding gene	gene with protein product	cancer/testis antigen 38	300308			NA	11279525	Standard	NM_031894	NM_031894	NA	Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.457G>A	X.37:g.31089614C>T	ENSP00000368207:p.Val153Met	NA	Q6NT24|Q6NTE2	37	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565741	0.27915	.	.	ENSG00000132446	ENST00000359202	T	0.65549	-0.16	3.95	-7.89	0.01174	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.813860	0.11045	N	0.605645	T	0.63307	0.2500	M	0.75777	2.31	0.20489	N	0.999899	D	0.67145	0.996	P	0.52109	0.69	T	0.73445	-0.3980	10	0.62326	D	0.03	.	7.1071	0.25370	0.0696:0.0807:0.4098:0.4399	.	153	Q9BXU8	FHL17_HUMAN	M	153	ENSP00000368207:V153M	ENSP00000368207:V153M	V	-	1	0	FTHL17	30999535	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.299000	0.00133	-5.197000	0.00019	-0.337000	0.08149	GTG	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056178.1		-	ENST00000359202.3	Missense_Mutation	SNP	X : 31089614 - 31089614 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	450	19
GHDC	84514	broad.mit.edu	37	17	40344270	40344270	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:40344270G>A	ENST00000593209.1	-	5	1041	c.878C>T	c.(877-879)gCt>gTt	p.A293V	GHDC_ENST00000587427.1_Missense_Mutation_p.A293V|GHDC_ENST00000428494.2_Missense_Mutation_p.A254V|GHDC_ENST00000301671.8_Missense_Mutation_p.A293V|GHDC_ENST00000436923.2_Missense_Mutation_p.A293V|GHDC_ENST00000414034.3_Missense_Mutation_p.A293V			Q8N2G8	GHDC_HUMAN	GH3 domain containing	293						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCCGAGGCAGCATAAGCAGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	110	111			NA	NA	17		NA											NA				40344270		2174	4271	6445	SO:0001583	missense			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925	84514	84514			24438	protein-coding gene	gene with protein product		608587			NA	11161808, 11735219	Standard	NM_032484	NR_024573	NA	Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000593209.1:c.878C>T	17.37:g.40344270G>A	ENSP00000468790:p.Ala293Val	NA	Q9BXM6	37		.	.	.	.	.	.	.	.	.	.	G	11.93	1.784509	0.31593	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.21	-0.341	0.12639	.	0.575297	0.16115	N	0.228891	T	0.30448	0.0765	L	0.50333	1.59	0.24253	N	0.995312	B;B;B	0.24186	0.079;0.099;0.028	B;B;B	0.28011	0.068;0.085;0.019	T	0.25257	-1.0137	9	0.16420	T	0.52	-0.1174	5.9724	0.19359	0.5217:0.0:0.4783:0.0	.	254;293;293	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	V	237;254;293;293;293	.	ENSP00000301671:A293V	A	-	2	0	GHDC	37597796	0.000000	0.05858	0.005000	0.12908	0.802000	0.45316	-0.016000	0.12613	0.097000	0.17492	-0.258000	0.10820	GCT	GHDC-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000449793.1		-	ENST00000593209.1	Missense_Mutation	SNP	17 : 40344270 - 40344270 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	1187	7
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000313949.7_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)											80	78	79			NA	NA	20		NA											NA				57484421		2203	4300	6503	SO:0001583	missense			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.2531G>A	20.37:g.57484421G>A	ENSP00000360141:p.Arg844His	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080417.3		+	ENST00000371100.4	Missense_Mutation	SNP	20 : 57484421 - 57484421 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	485	37
GPR135	64582	broad.mit.edu	37	14	59930560	59930560	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:59930560C>T	ENST00000395116.1	-	1	1500	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	462						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R462H(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TGGATTTTTGCGGGCCCACAT	0.607		NA											c	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	7e-04	SNP								NA				2	Substitution - Missense(2)	lung(1)|endometrium(1)											33	35	34			NA	NA	14		NA											NA				59930560		2203	4300	6503	SO:0001583	missense			AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619	64582	64582		GPCR / Class A : Orphans	19991	protein-coding gene	gene with protein product		607970			NA	14623098	Standard	NM_022571	NM_022571	NA	Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1385G>A	14.37:g.59930560C>T	ENSP00000378548:p.Arg462His	NA	Q7Z604|Q86SM3|Q8NH39	37	CCDS9738.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	22.5	4.292998	0.80914	.	.	ENSG00000181619	ENST00000395116	T	0.61980	0.06	4.89	3.08	0.35506	.	0.387780	0.22539	U	0.058753	T	0.46034	0.1372	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30297	-0.9983	10	0.39692	T	0.17	-2.7593	11.0647	0.47968	0.0:0.8502:0.0:0.1498	.	462	Q8IZ08	GP135_HUMAN	H	462	ENSP00000378548:R462H	ENSP00000378548:R462H	R	-	2	0	GPR135	59000313	1.000000	0.71417	0.940000	0.37924	0.994000	0.84299	3.548000	0.53670	0.675000	0.31264	0.651000	0.88453	CGC	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276941.1		-	ENST00000395116.1	Missense_Mutation	SNP	14 : 59930560 - 59930560 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	153	4
GRIK4	2900	broad.mit.edu	37	11	120838027	120838027	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:120838027C>T	ENST00000527524.2	+	19	2677	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V	GRIK4_ENST00000438375.2_Missense_Mutation_p.A797V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	797					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GATCACAGAGCTAAAGGTAAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	98	102			NA	NA	11		NA											NA				120838027		2203	4299	6502	SO:0001583	missense			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403	2900	2900		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4582	protein-coding gene	gene with protein product		600282		GRIK	NA		Standard	NM_014619	NM_001282470	NA	Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2390C>T	11.37:g.120838027C>T	ENSP00000435648:p.Ala797Val	NA	A8K9L1	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503700	0.96371	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.54479	0.57;0.57	5.41	5.41	0.78517	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.73678	-0.3907	10	0.87932	D	0	.	18.7905	0.91973	0.0:1.0:0.0:0.0	.	797	Q16099	GRIK4_HUMAN	V	797	ENSP00000435648:A797V;ENSP00000404063:A797V	ENSP00000404063:A797V	A	+	2	0	GRIK4	120343237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.032000	0.70918	2.537000	0.85549	0.563000	0.77884	GCT	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109760.4		+	ENST00000527524.2	Missense_Mutation	SNP	11 : 120838027 - 120838027 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	245	6
GRM5	2915	broad.mit.edu	37	11	88780514	88780514	+	Missense_Mutation	SNP	C	C	A	rs151175803	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:88780514C>A	ENST00000305447.4	-	1	676	c.527G>T	c.(526-528)aGc>aTc	p.S176I	GRM5_ENST00000418177.2_Missense_Mutation_p.S176I|GRM5_ENST00000393294.3_Missense_Mutation_p.S176I|GRM5_ENST00000305432.5_Missense_Mutation_p.S176I|GRM5_ENST00000393297.1_Missense_Mutation_p.S176I|GRM5_ENST00000455756.2_Missense_Mutation_p.S176I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	176					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGATCCATGCTGGTTGCTGA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	67	70			NA	NA	11		NA											NA				88780514		2201	4299	6500	SO:0001583	missense			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959	2915	2915		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4597	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 86	604102			NA	7908515	Standard	NM_000842	NM_001143831	NA	Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.527G>T	11.37:g.88780514C>A	ENSP00000306138:p.Ser176Ile	NA		37	CCDS44694.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.368843|4.368843	0.82463|0.82463	.|.	.|.	ENSG00000168959|ENSG00000168959	ENST00000449371|ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	.|D;D;D;D;D;D	.|0.88818	.|-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.4|5.4	5.4|5.4	0.78164|0.78164	.|GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95169|0.95169	0.8434|0.8434	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.996;1.0	D|D	0.95135|0.95135	0.8258|0.8258	5|9	.|.	.|.	.|.	.|.	19.1788|19.1788	0.93614|0.93614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|176;176;176	.|A8MT20;P41594-2;P41594	.|.;.;GRM5_HUMAN	S|I	9|176	.|ENSP00000402912:S176I;ENSP00000405690:S176I;ENSP00000305905:S176I;ENSP00000306138:S176I;ENSP00000376975:S176I;ENSP00000376972:S176I	.|.	A|S	-|-	1|2	0|0	GRM5|GRM5	88420162|88420162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.687000|7.687000	0.84139|0.84139	2.514000|2.514000	0.84764|0.84764	0.563000|0.563000	0.77884|0.77884	GCA|AGC	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259226.1		-	ENST00000305447.4	Missense_Mutation	SNP	11 : 88780514 - 88780514 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	398	6
GRM5	2915	broad.mit.edu	37	11	88780631	88780631	+	Missense_Mutation	SNP	A	A	G	rs72954992	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:88780631A>G	ENST00000305447.4	-	1	559	c.410T>C	c.(409-411)tTc>tCc	p.F137S	GRM5_ENST00000418177.2_Missense_Mutation_p.F137S|GRM5_ENST00000393294.3_Missense_Mutation_p.F137S|GRM5_ENST00000305432.5_Missense_Mutation_p.F137S|GRM5_ENST00000393297.1_Missense_Mutation_p.F137S|GRM5_ENST00000455756.2_Missense_Mutation_p.F137S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	137					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTGGAGCGGAAGGAAGAGGA	0.502		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			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959	2915	2915		GPCR / Class C : Glutamate receptors, metabotropic, Glutamate receptors	4597	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 86	604102			NA	7908515	Standard	NM_000842	NM_001143831	NA	Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.410T>C	11.37:g.88780631A>G	ENSP00000306138:p.Phe137Ser	NA		37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510476	0.27036	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.141460	0.64402	D	0.000005	T	0.69753	0.3146	N	0.03608	-0.345	0.38027	D	0.935059	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.11329	0.002;0.001;0.006	T	0.66775	-0.5838	9	.	.	.	.	9.8808	0.41231	0.9236:0.0:0.0764:0.0	.	137;137;137	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	S	137	ENSP00000402912:F137S;ENSP00000405690:F137S;ENSP00000305905:F137S;ENSP00000306138:F137S;ENSP00000376975:F137S;ENSP00000376972:F137S	.	F	-	2	0	GRM5	88420279	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.086000	0.64474	2.033000	0.60031	0.460000	0.39030	TTC	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259226.1		-	ENST00000305447.4	Missense_Mutation	SNP	11 : 88780631 - 88780631 G PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	367	5
HEATR1	55127	broad.mit.edu	37	1	236739626	236739626	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:236739626G>A	ENST00000366582.3	-	22	3091	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.H993Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	993					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTGATGAGATTTCAGT	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	141	139			NA	NA	1		NA											NA				236739626		2203	4300	6503	SO:0001583	missense			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285	55127	55127			25517	protein-coding gene	gene with protein product	UTP10, small subunit (SSU) processome component, homolog (yeast)				NA	17699751	Standard	XM_375853	NM_018072	NA	Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2977C>T	1.37:g.236739626G>A	ENSP00000355541:p.His993Tyr	NA	Q5T3Q8|Q6P197|Q9NW23	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352148	0.05173	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66099	-0.17;-0.19	5.33	3.46	0.39613	Armadillo-type fold (2);	0.584047	0.17920	N	0.157540	T	0.44138	0.1279	L	0.31294	0.92	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27226	-1.0080	10	0.02654	T	1	.	11.691	0.51516	0.1441:0.0:0.8559:0.0	.	993;993	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	Y	993	ENSP00000355541:H993Y;ENSP00000355540:H993Y	ENSP00000355540:H993Y	H	-	1	0	HEATR1	234806249	1.000000	0.71417	0.983000	0.44433	0.946000	0.59487	2.700000	0.47085	0.646000	0.30693	0.460000	0.39030	CAT	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096635.1		-	ENST00000366582.3	Missense_Mutation	SNP	1 : 236739626 - 236739626 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	700	24
HERC2	8924	broad.mit.edu	37	15	28370291	28370291	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:28370291C>T	ENST00000261609.7	-	84	12959	c.12851G>A	c.(12850-12852)gGa>gAa	p.G4284E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4284					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTGGTGGTTCCGTCTCCCAG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													234	211	219			NA	NA	15		NA											NA				28370291		2203	4300	6503	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12851G>A	15.37:g.28370291C>T	ENSP00000261609:p.Gly4284Glu	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116754	0.94385	.	.	ENSG00000128731	ENST00000261609	D	0.84589	-1.87	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94249	0.7492	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4284	O95714	HERC2_HUMAN	E	4284	ENSP00000261609:G4284E	ENSP00000261609:G4284E	G	-	2	0	HERC2	26043886	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GGA	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28370291 - 28370291 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	1218	33
IFI44	10561	broad.mit.edu	37	1	79128422	79128422	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:79128422C>G	ENST00000370747.4	+	8	1232	c.1147C>G	c.(1147-1149)Ctt>Gtt	p.L383V	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	383					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGGATTTGCTCTTTCTGACAT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	111	115			NA	NA	1		NA											NA				79128422		2203	4300	6503	SO:0001583	missense			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965	10561	10561			16938	protein-coding gene	gene with protein product	TBC/LysM-associated domain containing 5	610468			NA	7925411	Standard	NM_006417	NM_006417	NA	Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1147C>G	1.37:g.79128422C>G	ENSP00000359783:p.Leu383Val	NA	D3DQ80|Q14496	37	CCDS688.1	.	.	.	.	.	.	.	.	.	.	C	3.724	-0.056868	0.07362	.	.	ENSG00000137965	ENST00000370747	T	0.08458	3.09	3.79	0.729	0.18266	.	0.232813	0.26457	N	0.024265	T	0.01489	0.0048	L	0.39633	1.23	0.80722	D	1	B	0.33266	0.404	B	0.27715	0.082	T	0.47497	-0.9113	10	0.13108	T	0.6	-4.7103	3.4522	0.07502	0.0:0.4573:0.1987:0.344	.	383	Q8TCB0	IFI44_HUMAN	V	383	ENSP00000359783:L383V	ENSP00000359783:L383V	L	+	1	0	IFI44	78901010	0.907000	0.30839	0.079000	0.20413	0.941000	0.58515	0.126000	0.15769	0.153000	0.19213	0.514000	0.50259	CTT	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026825.1		+	ENST00000370747.4	Missense_Mutation	SNP	1 : 79128422 - 79128422 G PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	400	17
KAT6A	7994	broad.mit.edu	37	8	41800505	41800505	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:41800505G>A	ENST00000396930.3	-	15	2785	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	KAT6A_ENST00000485568.1_Missense_Mutation_p.R748C|KAT6A_ENST00000265713.2_Missense_Mutation_p.R748C|KAT6A_ENST00000406337.1_Missense_Mutation_p.R748C	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	748	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding				NA						TTTTCCCGGCGGATAATCACA	0.423		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	8		NA											NA				41800505		2203	4300	6503	SO:0001583	missense			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	7994	7994		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	13013	protein-coding gene	gene with protein product	Monocytic leukemia zinc finger protein	601408	runt-related transcription factor binding protein 2, MYST histone acetyltransferase (monocytic leukemia) 3	ZNF220, RUNXBP2, MYST3	NA	8849440, 8782817	Standard	NM_006766	NM_001099412	NA	Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2242C>T	8.37:g.41800505G>A	ENSP00000380136:p.Arg748Cys	NA	Q76L81	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768196	0.49680	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84516	0.15;0.15;0.15;-1.86	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.89508	0.6735	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.88927	0.3370	10	0.52906	T	0.07	-18.0878	20.5792	0.99380	0.0:0.0:1.0:0.0	.	748;748	A5PLL3;Q92794	.;KAT6A_HUMAN	C	748;748;748;328;748	ENSP00000265713:R748C;ENSP00000385888:R748C;ENSP00000380136:R748C;ENSP00000430606:R748C	ENSP00000265713:R748C	R	-	1	0	KAT6A	41919662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.239000	0.72356	2.873000	0.98535	0.561000	0.74099	CGC	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318163.1		-	ENST00000396930.3	Missense_Mutation	SNP	8 : 41800505 - 41800505 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	466	22
KCNA1	3736	broad.mit.edu	37	12	5021286	5021286	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:5021286G>A	ENST00000382545.3	+	2	1849	c.742G>A	c.(742-744)Gac>Aac	p.D248N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	248					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGCAAGACGGACTTCTTCAA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	80	82			NA	NA	12		NA											NA				5021286		2203	4300	6503	SO:0001583	missense			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262	3736	3736		Potassium channels, Voltage-gated ion channels / Potassium channels	6218	protein-coding gene	gene with protein product		176260		AEMK	NA	1349297, 8821794, 16382104	Standard	NM_000217	NM_000217	NA	Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.742G>A	12.37:g.5021286G>A	ENSP00000371985:p.Asp248Asn	NA	A6NM83|Q3MIQ9	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538245	0.27475	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97256	-4.31	4.97	4.97	0.65823	Ion transport (1);	0.124139	0.56097	D	0.000038	D	0.94059	0.8096	L	0.31664	0.95	0.41605	D	0.988877	B	0.16603	0.018	B	0.25759	0.063	D	0.90746	0.4653	10	0.19590	T	0.45	.	17.7728	0.88497	0.0:0.0:1.0:0.0	.	248	Q09470	KCNA1_HUMAN	N	248	ENSP00000371985:D248N	ENSP00000228858:D248N	D	+	1	0	KCNA1	4891547	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.661000	0.83786	2.735000	0.93741	0.655000	0.94253	GAC	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000103343.2		+	ENST00000382545.3	Missense_Mutation	SNP	12 : 5021286 - 5021286 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	512	17
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.P856P|KIAA0100_ENST00000389003.3_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											110	106	107			NA	NA	17		NA											NA				26961608		2203	4300	6503	SO:0001819	synonymous_variant			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202	9703	9703			28960	protein-coding gene	gene with protein product	cancer/testis antigen 101, breast cancer overexpressed gene 1	610664			NA	16289875	Standard	NM_014680	NM_014680	NA	Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G		NA	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	37	CCDS32595.1																																																																																			KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390571.3		-	ENST00000528896.2	Silent	SNP	17 : 26961608 - 26961608 G PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	759	6
KLB	152831	broad.mit.edu	37	4	39448687	39448687	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:39448687G>A	ENST00000257408.4	+	4	2438	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	781	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAAGACCGGGGACTACCCCGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	31	30			NA	NA	4		NA											NA				39448687		2188	4276	6464	SO:0001583	missense			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962	152831	152831			15527	protein-coding gene	gene with protein product		611135			NA		Standard	NM_175737	NM_175737	NA	Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2341G>A	4.37:g.39448687G>A	ENSP00000257408:p.Asp781Asn	NA	Q2M3K8	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854905	0.71719	.	.	ENSG00000134962	ENST00000257408	T	0.33654	1.4	4.95	4.95	0.65309	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050736	0.85682	D	0.000000	T	0.41465	0.1160	M	0.65975	2.015	0.49051	D	0.99974	P;P	0.44139	0.827;0.827	B;B	0.43445	0.42;0.42	T	0.46289	-0.9202	10	0.87932	D	0	-32.5532	12.6289	0.56646	0.0803:0.0:0.9197:0.0	.	772;781	B7ZL50;Q86Z14	.;KLOTB_HUMAN	N	781	ENSP00000257408:D781N	ENSP00000257408:D781N	D	+	1	0	KLB	39125082	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.387000	0.66243	2.293000	0.77203	0.313000	0.20887	GAC	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250429.1		+	ENST00000257408.4	Missense_Mutation	SNP	4 : 39448687 - 39448687 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	522	21
LDHC	3948	broad.mit.edu	37	11	18467784	18467784	+	Silent	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:18467784G>T	ENST00000546146.1	+	5	536				LDHC_ENST00000544105.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000280704.4_Silent_p.G246G|LDHC_ENST00000541669.1_Silent_p.G246G|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000536880.1_Silent_p.G232G			P07864	LDHC_HUMAN	lactate dehydrogenase C	NA					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AGCTGAAGGGGTATACCTCTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	176	177			NA	NA	11		NA											NA				18467784		2199	4293	6492	SO:0001627	intron_variant			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	3948	3948	1.1.1.27		6544	protein-coding gene	gene with protein product	cancer/testis antigen 32	150150			NA		Standard	NM_017448	NM_002301	NA	Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000546146.1:c.537-4726G>T	11.37:g.18467784G>T		NA	D3DQY4|Q6GSG8|Q7Z7J4	37	CCDS7840.1																																																																																			LDHC-008	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395897.1		+	ENST00000546146.1	Intron	SNP	11 : 18467784 - 18467784 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	678	25
LILRB2	10288	broad.mit.edu	37	19	54782828	54782828	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:54782828C>T	ENST00000391748.1	-	6	921	c.794G>A	c.(793-795)cGc>cAc	p.R265H	LILRB2_ENST00000434421.1_Missense_Mutation_p.R149H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R265H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R265H|LILRB2_ENST00000391749.4_Missense_Mutation_p.R265H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	265	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGAGCTGGCGAAGGTCACG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	19		NA											NA				54782828		2203	4300	6503	SO:0001583	missense			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042	NA	10288		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6606	protein-coding gene	gene with protein product		604815			NA	9151699, 9079806	Standard		XM_006722966	NA	Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391748.1:c.794G>A	19.37:g.54782828C>T	ENSP00000375628:p.Arg265His	NA	O75017|Q8NHJ7|Q8NHJ8	37	CCDS42612.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018126	0.35606	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	2.6	-3.34	0.04943	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.782710	0.03355	N	0.196682	T	0.17704	0.0425	L	0.42581	1.335	0.09310	N	1	D;P;D	0.58970	0.961;0.933;0.984	P;P;P	0.53809	0.735;0.735;0.735	T	0.24154	-1.0168	10	0.23302	T	0.38	.	5.3689	0.16129	0.6328:0.1698:0.1974:0.0	.	265;282;265	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	265;265;265;265;149	ENSP00000375628:R265H;ENSP00000319960:R265H;ENSP00000375629:R265H;ENSP00000375626:R265H;ENSP00000410117:R149H	ENSP00000319960:R265H	R	-	2	0	LILRB2	59474640	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.344000	0.02639	-1.121000	0.02949	-1.465000	0.01017	CGC	LILRB2-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000139335.2		-	ENST00000391748.1	Missense_Mutation	SNP	19 : 54782828 - 54782828 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	501	17
LPHN3	23284	broad.mit.edu	37	4	62812695	62812695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:62812695C>T	ENST00000512091.2	+	15	3026	c.2279C>T	c.(2278-2280)gCc>gTc	p.A760V	LPHN3_ENST00000507164.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A828V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A828V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A828V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514996.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508693.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A828V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A760V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508946.1_Missense_Mutation_p.A760V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514591.1_Missense_Mutation_p.A760V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A828V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	NA					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.A760V(3)|p.A760G(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACGGAGAATGCCAGTATGAAG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	prostate(3)|lung(1)											261	245	250			NA	NA	4		NA											NA				62812695		1885	4119	6004	SO:0001583	missense			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471	23284	23284		-, GPCR / Class B : Orphans	20974	protein-coding gene	gene with protein product					NA	10994649	Standard		NM_015236	NA	Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000512091.2:c.2279C>T	4.37:g.62812695C>T	ENSP00000423388:p.Ala760Val	NA	O94867|Q9NWK5	37		.	.	.	.	.	.	.	.	.	.	C	34	5.409129	0.96072	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.51	5.51	0.81932	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.65975	2.015	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.972	P;P;P	0.59703	0.862;0.862;0.616	T	0.00849	-1.1541	10	0.66056	D	0.02	.	19.4278	0.94751	0.0:1.0:0.0:0.0	.	760;747;760	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	V	760;760;828;828;760;760;747;760;828;828;828;760;760;760;828;828;760	ENSP00000423388:A760V;ENSP00000422533:A760V;ENSP00000423787:A828V;ENSP00000425033:A828V;ENSP00000424120:A760V;ENSP00000439831:A760V;ENSP00000421476:A828V;ENSP00000424030:A828V;ENSP00000421372:A828V;ENSP00000425201:A760V;ENSP00000423434:A760V;ENSP00000421627:A760V;ENSP00000420931:A828V;ENSP00000425884:A828V;ENSP00000424258:A760V	ENSP00000280009:A760V	A	+	2	0	LPHN3	62495290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.595000	0.87683	0.557000	0.71058	GCC	LPHN3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000361763.2		+	ENST00000512091.2	Missense_Mutation	SNP	4 : 62812695 - 62812695 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	1257	7
LRP1	4035	broad.mit.edu	37	12	57606324	57606324	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:57606324G>A	ENST00000243077.3	+	89	14087	c.13621G>A	c.(13621-13623)Gac>Aac	p.D4541N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4541	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAGATAGGGGACCCCTTGGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	12		NA											NA				57606324		2203	4300	6503	SO:0001583	missense			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	4035	4035		CD molecules, Low density lipoprotein receptors	6692	protein-coding gene	gene with protein product		107770	alpha-2-macroglobulin receptor	APR, A2MR	NA	2548950	Standard	NM_002332	NM_002332	NA	Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13621G>A	12.37:g.57606324G>A	ENSP00000243077:p.Asp4541Asn	NA	Q2PP12|Q8IVG8	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978696	0.74360	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.66	4.66	0.58398	.	0.000000	0.56097	D	0.000037	D	0.85932	0.5812	L	0.44542	1.39	0.80722	D	1	B	0.27498	0.18	B	0.24848	0.056	D	0.84674	0.0713	10	0.66056	D	0.02	.	10.7064	0.45958	0.0925:0.0:0.9075:0.0	.	4541	Q07954	LRP1_HUMAN	N	4541	ENSP00000243077:D4541N	ENSP00000243077:D4541N	D	+	1	0	LRP1	55892591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.464000	0.80887	2.403000	0.81681	0.491000	0.48974	GAC	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412772.2		+	ENST00000243077.3	Missense_Mutation	SNP	12 : 57606324 - 57606324 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	323	9
LYPD3	27076	broad.mit.edu	37	19	43965886	43965886	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:43965886G>A	ENST00000244333.3	-	5	746	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	220	UPAR/Ly6 2.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GAGTTACAGCGGGACCCCTGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	95	94			NA	NA	19		NA											NA				43965886		2203	4300	6503	SO:0001583	missense			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466	27076	27076			24880	protein-coding gene	gene with protein product		609484			NA	11179665, 11245483	Standard	NM_014400	NM_014400	NA	Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.658C>T	19.37:g.43965886G>A	ENSP00000244333:p.Arg220Cys	NA	Q9UJ74	37	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578355	0.65878	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.69926	-0.44	4.38	4.38	0.52667	CD59 antigen (1);	0.194301	0.35067	N	0.003473	T	0.71829	0.3386	L	0.36672	1.1	0.48975	D	0.999739	D	0.89917	1.0	D	0.70716	0.97	T	0.70461	-0.4865	10	0.38643	T	0.18	.	13.21	0.59819	0.0:0.0:1.0:0.0	.	220	O95274	LYPD3_HUMAN	C	220;168	ENSP00000244333:R220C	ENSP00000244333:R220C	R	-	1	0	LYPD3	48657726	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.529000	0.60588	2.396000	0.81511	0.603000	0.83216	CGC	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463177.1		-	ENST00000244333.3	Missense_Mutation	SNP	19 : 43965886 - 43965886 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	736	28
MOV10L1	54456	broad.mit.edu	37	22	50591565	50591565	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:50591565C>T	ENST00000262794.5	+	22	3067	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V	MOV10L1_ENST00000545383.1_Missense_Mutation_p.A995V|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A122V|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A995V|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A975V|MOV10L1_ENST00000395843.1_Missense_Mutation_p.A38V|MOV10L1_ENST00000354853.2_Missense_Mutation_p.A38V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	995					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGGTCTGTGCGGACCCCACA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	191	196			NA	NA	22		NA											NA				50591565		2203	4300	6503	SO:0001583	missense			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146	54456	54456			7201	protein-coding gene	gene with protein product	cardiac helicase activated by MEF2C protein	605794	Mov10 (mouse)-like 1, Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)		NA	11279525	Standard	NM_018995	NM_018995	NA	Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2984C>T	22.37:g.50591565C>T	ENSP00000262794:p.Ala995Val	NA	B7WPP1|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	17.01	3.278572	0.59758	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.11	5.11	0.69529	.	0.049834	0.85682	D	0.000000	D	0.95809	0.8636	M	0.77616	2.38	0.45216	D	0.998227	D;D;P;D;D	0.89917	1.0;0.999;0.931;0.999;0.999	D;D;B;D;D	0.66084	0.939;0.935;0.318;0.941;0.919	D	0.96234	0.9170	10	0.72032	D	0.01	-23.7788	18.5434	0.91038	0.0:1.0:0.0:0.0	.	975;38;122;995;995	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	V	995;995;995;38;975;122;38	ENSP00000438978:A995V;ENSP00000262794:A995V;ENSP00000379199:A995V;ENSP00000379184:A38V;ENSP00000438542:A975V;ENSP00000379193:A122V;ENSP00000346917:A38V	ENSP00000262794:A995V	A	+	2	0	MOV10L1	48933692	1.000000	0.71417	0.988000	0.46212	0.046000	0.14306	4.245000	0.58734	2.376000	0.81061	0.462000	0.41574	GCG	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075009.2		+	ENST00000262794.5	Missense_Mutation	SNP	22 : 50591565 - 50591565 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	708	6
MST1	4485	broad.mit.edu	37	3	49724639	49724639	+	Missense_Mutation	SNP	A	A	G	rs41291704		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49724639A>G	ENST00000449682.2	-	5	911	c.550T>C	c.(550-552)Tac>Cac	p.Y184H	MST1_ENST00000545762.1_Silent_p.A131A|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Y109H	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	170	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTTGTGTAGCACCAAGGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(110;181 1524 8005 22865 46297)							NA				0													37	38	38			NA	NA	3		NA											NA				49724639		2202	4300	6502	SO:0001583	missense			M74178	CCDS33757.2	3p21	2008-09-05			ENSG00000173531	ENSG00000173531	4485	4485			7380	protein-coding gene	gene with protein product	hepatocyte growth factor-like protein homolog	142408		D3F15S2, HGFL, DNF15S2	NA	2902784, 8393443	Standard	NM_020998	NM_020998	NA	Approved	MSP, NF15S2	uc003cxg.3	P26927	OTTHUMG00000155918	ENST00000449682.2:c.550T>C	3.37:g.49724639A>G	ENSP00000414287:p.Tyr184His	NA	A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4	37	CCDS33757.2	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916533	0.92249	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.73681	-0.77;-0.77	6.08	6.08	0.98989	Kringle (4);Kringle-like fold (1);	0.000000	0.38436	N	0.001682	D	0.87047	0.6080	M	0.81341	2.54	0.80722	D	1	D;P;P	0.89917	1.0;0.926;0.667	D;P;P	0.97110	1.0;0.852;0.66	D	0.88267	0.2927	10	0.66056	D	0.02	.	16.6512	0.85203	1.0:0.0:0.0:0.0	rs41291704	170;170;184	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	H	184;109	ENSP00000414287:Y184H;ENSP00000373234:Y109H	ENSP00000373234:Y109H	Y	-	1	0	MST1	49699643	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.332000	0.96446	2.333000	0.79357	0.482000	0.46254	TAC	MST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342315.3		-	ENST00000449682.2	Missense_Mutation	SNP	3 : 49724639 - 49724639 G PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	283	5
MYH4	4622	broad.mit.edu	37	17	10348217	10348217	+	Splice_Site	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:10348217C>A	ENST00000255381.2	-	38	5577		c.e38-1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	NA					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCTCTCACCTGGAAGGGAA	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													261	205	224			NA	NA	17		NA											NA				10348217		2203	4300	6503	SO:0001630	splice_region_variant				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	4622	4622		Myosins / Myosin superfamily : Class II	7574	protein-coding gene	gene with protein product		160742	myosin, heavy polypeptide 4, skeletal muscle		NA	8518795	Standard	NM_017533	NM_017533	NA	Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5467-1G>T	17.37:g.10348217C>A		NA		37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308539	0.81247	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7739	0.96383	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10288942	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.776000	0.85560	2.744000	0.94065	0.655000	0.94253	.	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252731.1	Intron	-	ENST00000255381.2	Splice_Site	SNP	17 : 10348217 - 10348217 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	721	6
NBEA	26960	broad.mit.edu	37	13	35630161	35630161	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:35630161C>T	ENST00000379939.2	+	7	1148	c.987C>T	c.(985-987)agC>agT	p.S329S	NBEA_ENST00000540320.1_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S|NBEA_ENST00000400445.3_Silent_p.S329S			Q8NFP9	NBEA_HUMAN	neurobeachin	329						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACATGATCAGCATTGTCCACA	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	143	148			NA	NA	13		NA											NA				35630161		1848	4085	5933	SO:0001819	synonymous_variant			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915	26960	26960		A-kinase anchor proteins, WD repeat domain containing	7648	protein-coding gene	gene with protein product		604889			NA	10501977	Standard	NM_015678	NM_015678	NA	Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000379939.2:c.987C>T	13.37:g.35630161C>T		NA	Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	37																																																																																				NBEA-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000044460.1		+	ENST00000379939.2	Silent	SNP	13 : 35630161 - 35630161 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	318	6
NSDHL	50814	broad.mit.edu	37	X	152031181	152031181	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:152031181C>T	ENST00000370274.3	+	5	650	c.456C>T	c.(454-456)ggC>ggT	p.G152G	NSDHL_ENST00000440023.1_Silent_p.G152G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	152					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.G152G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TCTTTGAGGGCGTCGATATCA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											159	138	145			NA	NA	X		NA											NA				152031181		2203	4300	6503	SO:0001819	synonymous_variant			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	50814	50814	1.1.1.170	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	13398	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 31E, member 1	300275			NA	10710235, 12837764, 19027726	Standard	NM_015922	NM_015922	NA	Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.456C>T	X.37:g.152031181C>T		NA	D3DWT6|O00344	37	CCDS14717.1																																																																																			NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060927.1		+	ENST00000370274.3	Silent	SNP	X : 152031181 - 152031181 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	635	24
OR1L4	254973	broad.mit.edu	37	9	125486583	125486583	+	Silent	SNP	C	C	T	rs139043736	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:125486583C>T	ENST00000259466.1	+	1	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F105F(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGTACTTCTTCATGGCATTTG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											156	143	147			NA	NA	9		NA											NA				125486583		2203	4300	6503	SO:0001819	synonymous_variant				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939	254973	254973		GPCR / Class A : Olfactory receptors	8216	protein-coding gene	gene with protein product				OR1L5	NA		Standard		NM_001005235	NA	Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.315C>T	9.37:g.125486583C>T		NA	Q6IFN0|Q96R81	37	CCDS35129.1																																																																																			OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053951.1		+	ENST00000259466.1	Silent	SNP	9 : 125486583 - 125486583 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	727	6
OR52A1	23538	broad.mit.edu	37	11	5173196	5173196	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:5173196G>A	ENST00000380367.1	-	2	821	c.404C>T	c.(403-405)gCc>gTc	p.A135V	OR52A1_ENST00000328942.1_Missense_Mutation_p.A135V			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	135					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGATGTTGGCATGTCTTAG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	85	90			NA	NA	11		NA											NA				5173196		2201	4298	6499	SO:0001583	missense			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070	23538	23538		GPCR / Class A : Olfactory receptors	8318	protein-coding gene	gene with protein product					NA	10512676	Standard	NM_012375	NM_012375	NA	Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.404C>T	11.37:g.5173196G>A	ENSP00000369725:p.Ala135Val	NA	Q6IF31	37	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919421	0.33908	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00411	7.53;7.53	5.28	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.674735	0.13640	N	0.373031	T	0.00496	0.0016	M	0.68952	2.095	0.09310	N	1	P	0.42161	0.772	B	0.38842	0.283	T	0.49862	-0.8894	10	0.87932	D	0	.	14.4598	0.67440	0.0:0.3045:0.6955:0.0	.	135	Q9UKL2	O52A1_HUMAN	V	135	ENSP00000369725:A135V;ENSP00000333684:A135V	ENSP00000333684:A135V	A	-	2	0	OR52A1	5129772	0.000000	0.05858	0.022000	0.16811	0.311000	0.27955	0.180000	0.16860	0.765000	0.33221	0.591000	0.81541	GCC	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142810.2		-	ENST00000380367.1	Missense_Mutation	SNP	11 : 5173196 - 5173196 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	259	11
PCDHB13	56123	broad.mit.edu	37	5	140594939	140594939	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140594939C>T	ENST00000341948.4	+	1	1431	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	415	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGCAGAGCGGAATACAAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	103	106			NA	NA	5		NA											NA				140594939		2203	4300	6503	SO:0001583	missense			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372	56123	56123		Cadherins / Protocadherins : Clustered	8684	other	protocadherin		606339			NA	10380929	Standard	NM_018933	NM_018933	NA	Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1244C>T	5.37:g.140594939C>T	ENSP00000345491:p.Ala415Val	NA		37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	14.50	2.553086	0.45487	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.03663	3.85	3.5	1.63	0.23807	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14270	0.0345	H	0.94423	3.535	0.09310	N	1	P	0.36199	0.543	B	0.42462	0.388	T	0.03863	-1.0997	9	0.87932	D	0	.	10.3549	0.43958	0.148:0.7087:0.1433:0.0	.	415	Q9Y5F0	PCDBD_HUMAN	V	415	ENSP00000345491:A415V	ENSP00000345491:A415V	A	+	2	0	PCDHB13	140575123	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	1.246000	0.32803	0.051000	0.15978	-2.031000	0.00424	GCG	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251810.1		+	ENST00000341948.4	Missense_Mutation	SNP	5 : 140594939 - 140594939 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	614	19
PCDHGA1	56114	broad.mit.edu	37	5	140712120	140712120	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140712120G>A	ENST00000517417.1	+	1	1869	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	PCDHGA1_ENST00000378105.3_Silent_p.T623T	NM_018912.2	NP_061735.1			protocadherin gamma subfamily A, 1	NA										breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGCACACGGGCGAGGTGC	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													20	25	23			NA	NA	5		NA											NA				140712120		2146	4222	6368	SO:0001819	synonymous_variant			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956	56114	56114		Cadherins / Protocadherins : Clustered	8696	other	protocadherin		606288			NA	10380929	Standard	NM_018912	NM_018912	NA	Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1869G>A	5.37:g.140712120G>A		NA		37	CCDS54922.1																																																																																			PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374737.1		+	ENST00000517417.1	Silent	SNP	5 : 140712120 - 140712120 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	386	18
PLS3	5358	broad.mit.edu	37	X	114871228	114871228	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:114871228G>A	ENST00000420625.2	+	8	963	c.829G>A	c.(829-831)Gca>Aca	p.A277T	PLS3_ENST00000289290.3_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000539310.1_Missense_Mutation_p.A232T	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	277	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTTAGATGGGCAAACTTTCA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(160;1047 1864 8490 12969 29601)							NA				0													124	125	125			NA	NA	X		NA											NA				114871228		2203	4300	6503	SO:0001583	missense			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024	5358	5358		EF-hand domain containing	9091	protein-coding gene	gene with protein product		300131	plastin 3 (T isoform)		NA	8428952	Standard		NM_005032	NA	Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.829G>A	X.37:g.114871228G>A	ENSP00000398945:p.Ala277Thr	NA	B1AQ09|Q86YI6	37	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679800	0.88542	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.66	5.66	0.87406	Calponin homology domain (5);	0.095206	0.64402	D	0.000001	D	0.94394	0.8197	M	0.65975	2.015	0.80722	D	1	B;P;P	0.42620	0.242;0.785;0.636	B;B;B	0.43809	0.164;0.236;0.432	D	0.94546	0.7749	10	0.54805	T	0.06	-11.3604	17.1434	0.86760	0.0:0.0:1.0:0.0	.	250;255;277	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	T	277;255;232;277;232	ENSP00000348163:A277T;ENSP00000445105:A255T;ENSP00000289290:A232T;ENSP00000398945:A277T;ENSP00000445339:A232T	ENSP00000289290:A232T	A	+	1	0	PLS3	114777484	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.363000	0.80096	0.538000	0.68166	GCA	PLS3-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057976.2		+	ENST00000420625.2	Missense_Mutation	SNP	X : 114871228 - 114871228 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	1180	7
PLXNB3	5365	broad.mit.edu	37	X	153036952	153036952	+	Missense_Mutation	SNP	G	G	A	rs141109198		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:153036952G>A	ENST00000361971.5	+	14	2473	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	PLXNB3_ENST00000538282.1_Missense_Mutation_p.D397N|PLXNB3_ENST00000538966.1_Missense_Mutation_p.D810N|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D440N	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	787					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATCCTGTACGACTGCGCCAT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP,ASN/ASP	0,3820		0,0,0,1630,560	38	36	37		2428,2359	5.1	1	X	dbSNP_134	37	2,6718		0,1,1,2425,1867	no	missense,missense	PLXNB3	NM_001163257.1,NM_005393.2	23,23	0,1,1,4055,2427	AA,AG,A,GG,G	NA	0.0298,0.0,0.019	benign,benign	810/1933,787/1910	153036952	2,10538	2190	4294	6484	SO:0001583	missense			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753	5365	5365		Plexins	9105	protein-coding gene	gene with protein product		300214		PLXN6	NA	10520995	Standard		NM_005393	NA	Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2359G>A	X.37:g.153036952G>A	ENSP00000355378:p.Asp787Asn	NA	Q9HDA4	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127716	0.20959	0.0	2.98E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.65549	5.37;5.34;4.75;-0.16	5.11	5.11	0.69529	.	0.049715	0.85682	D	0.000000	T	0.36853	0.0982	N	0.21373	0.66	0.44261	D	0.997117	B;P;B;B	0.36249	0.008;0.545;0.024;0.003	B;B;B;B	0.28849	0.004;0.095;0.02;0.003	T	0.41893	-0.9483	10	0.02654	T	1	.	8.7349	0.34523	0.1051:0.0:0.8949:0.0	.	440;469;810;787	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	N	810;787;440;397	ENSP00000442736:D810N;ENSP00000355378:D787N;ENSP00000445569:D440N;ENSP00000441919:D397N	ENSP00000355378:D787N	D	+	1	0	PLXNB3	152690146	0.213000	0.23551	0.985000	0.45067	0.052000	0.14988	1.359000	0.34113	2.111000	0.64477	0.529000	0.55759	GAC	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061063.1		+	ENST00000361971.5	Missense_Mutation	SNP	X : 153036952 - 153036952 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	252	12
POU4F2	5458	broad.mit.edu	37	4	147561030	147561030	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:147561030C>A	ENST00000281321.3	+	2	548	c.300C>A	c.(298-300)ttC>ttA	p.F100L		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	100					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCAATATATTCGGCGGGCTGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	57	51			NA	NA	4		NA											NA				147561030		2203	4300	6503	SO:0001583	missense			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13				5458	5458		Homeoboxes / POU class	9219	protein-coding gene	gene with protein product		113725	POU domain, class 4, transcription factor 2, POU domain class 4, transcription factor 2	BRN3B	NA	8332509	Standard	NM_004575	NM_004575	NA	Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.300C>A	4.37:g.147561030C>A	ENSP00000281321:p.Phe100Leu	NA	B1PJR6|B2RC84|Q13883|Q14987	37	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656967	0.67586	.	.	ENSG00000151615	ENST00000281321	T	0.20881	2.04	5.9	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.19451	-1.0305	10	0.59425	D	0.04	.	10.1163	0.42593	0.0:0.8456:0.0:0.1544	.	100	Q12837	PO4F2_HUMAN	L	100	ENSP00000281321:F100L	ENSP00000281321:F100L	F	+	3	2	POU4F2	147780480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.989000	0.40707	1.489000	0.48450	0.563000	0.77884	TTC	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367020.1		+	ENST00000281321.3	Missense_Mutation	SNP	4 : 147561030 - 147561030 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	346	5
PTCHD2	57540	broad.mit.edu	37	1	11579468	11579468	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:11579468C>T	ENST00000294484.6	+	8	2084	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A649V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	649					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GACGTGTTTGCCGCTCCCGAG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	144	140			NA	NA	1		NA											NA				11579468		2018	4176	6194	SO:0001583	missense			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624	57540	57540			29251	protein-coding gene	gene with protein product		611251			NA	15738394	Standard	XM_052561	NM_020780	NA	Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1946C>T	1.37:g.11579468C>T	ENSP00000294484:p.Ala649Val	NA	Q5VTU9|Q9UJD6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	c	0.062	-1.222704	0.01530	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.89343	-2.5;-2.5	5.31	4.2	0.49525	.	0.708452	0.14158	N	0.337598	T	0.74741	0.3756	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.60357	-0.7279	10	0.27785	T	0.31	-7.2097	7.9709	0.30127	0.0:0.8421:0.0:0.1579	.	649	Q9P2K9	PTHD2_HUMAN	V	649	ENSP00000294484:A649V;ENSP00000374226:A649V	ENSP00000294484:A649V	A	+	2	0	PTCHD2	11502055	0.037000	0.19845	0.620000	0.29132	0.040000	0.13550	2.572000	0.45999	2.491000	0.84063	0.651000	0.88453	GCC	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005770.2		+	ENST00000294484.6	Missense_Mutation	SNP	1 : 11579468 - 11579468 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	1246	7
RALGAPA1	253959	broad.mit.edu	37	14	36064899	36064899	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:36064899C>T	ENST00000382366.3	-	37	5769	c.5671G>A	c.(5671-5673)Gta>Ata	p.V1891I	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.V1925I|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.V1878I	NM_001283043.1	NP_001269972.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1878	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGAAATATTACCTCTACTGTA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	141	142			NA	NA	14		NA											NA				36064899		2202	4300	6502	SO:0001583	missense			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373	253959	253959			17770	protein-coding gene	gene with protein product	tuberin-like protein 1, GAP-related interacting protein to E12	608884	GTPase activating RANGAP domain-like 1, GTPase activating Rap/RanGAP domain-like 1	GARNL1	NA	19520869	Standard	XM_210022	NM_014990	NA	Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000382366.3:c.5671G>A	14.37:g.36064899C>T	ENSP00000371803:p.Val1891Ile	NA	A6NMA4|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	37		.	.	.	.	.	.	.	.	.	.	C	24.5	4.542814	0.86022	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.05	5.05	0.67936	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	L	0.39085	1.19	0.53688	D	0.999976	D;P;P;P	0.76494	0.999;0.927;0.918;0.756	D;P;P;P	0.80764	0.994;0.842;0.554;0.531	D	0.94142	0.7398	10	0.51188	T	0.08	-13.6603	18.7911	0.91974	0.0:1.0:0.0:0.0	.	1925;1891;1878;1878	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	I	1878;1878;1878;1925;516;1891;1925	ENSP00000374348:V1878I;ENSP00000302647:V1878I;ENSP00000258840:V1925I;ENSP00000451133:V516I;ENSP00000371803:V1891I;ENSP00000451877:V1925I	ENSP00000258840:V1925I	V	-	1	0	RALGAPA1	35134650	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.039000	0.70972	2.493000	0.84123	0.655000	0.94253	GTA	RALGAPA1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409830.1		-	ENST00000382366.3	Missense_Mutation	SNP	14 : 36064899 - 36064899 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	515	12
RHOA	387	broad.mit.edu	37	3	49405942	49405942	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49405942A>T	ENST00000422781.1	-	3	348	c.196T>A	c.(196-198)Tat>Aat	p.Y66N	RHOA_ENST00000418115.1_Missense_Mutation_p.Y66N|RHOA_ENST00000454011.2_Intron			P61586	RHOA_HUMAN	ras homolog family member A	66					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGCGATCATAATCTTCCTGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	117	119			NA	NA	3		NA											NA				49405942		2203	4300	6503	SO:0001583	missense			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560	387	387			667	protein-coding gene	gene with protein product		165390	ras homolog gene family, member A	ARH12, ARHA	NA	9605859	Standard	NM_001664	NM_001664	NA	Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000422781.1:c.196T>A	3.37:g.49405942A>T	ENSP00000413587:p.Tyr66Asn	NA	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	37		.	.	.	.	.	.	.	.	.	.	A	28.1	4.889072	0.91814	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.81579	-1.51;-1.51;-1.51	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.92970	3.365	0.80722	D	1	P	0.40398	0.716	P	0.60012	0.867	D	0.93013	0.6433	10	0.87932	D	0	.	14.9619	0.71164	1.0:0.0:0.0:0.0	.	66	P61586	RHOA_HUMAN	N	66	ENSP00000400175:Y66N;ENSP00000413587:Y66N;ENSP00000408402:Y66N	ENSP00000400175:Y66N	Y	-	1	0	RHOA	49380946	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.163000	0.94750	2.219000	0.72066	0.450000	0.29827	TAT	RHOA-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000346201.2		-	ENST00000422781.1	Missense_Mutation	SNP	3 : 49405942 - 49405942 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	712	34
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647		NA											C	5	0.0023	0.002	NA	2184	0.01	0.9928	,	,	NA	5e-04	0.0013	NA	NA	0.0052	0.463	LOWCOV	NA	NA	0.0045	SNP								NA				2	Substitution - Missense(2)	central_nervous_system(2)											85	81	82			NA	NA	19		NA											NA				52149092		2071	4198	6269	SO:0001583	missense			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415	100049587	100049587		Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	32926	protein-coding gene	gene with protein product					NA	17012248	Standard	NM_001098612	NM_001098612	NA	Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.643G>A	19.37:g.52149092C>T	ENSP00000354090:p.Val215Met	NA	Q6UXG0	37	CCDS42604.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	16.24	3.066375	0.55539	.	.	ENSG00000254415	ENST00000360844	D	0.89810	-2.57	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.90628	0.7061	M	0.85859	2.78	0.19775	N	0.999952	D	0.64830	0.994	P	0.60345	0.873	D	0.83788	0.0229	10	0.66056	D	0.02	.	9.82	0.40876	0.0:1.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	M	215	ENSP00000354090:V215M	ENSP00000354090:V215M	V	-	1	0	SIGLEC14	56840904	0.048000	0.20356	0.215000	0.23724	0.789000	0.44602	1.698000	0.37794	1.755000	0.51935	0.514000	0.50259	GTG	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466899.2		-	ENST00000360844.6	Missense_Mutation	SNP	19 : 52149092 - 52149092 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	384	7
SLC8A1	6546	broad.mit.edu	37	2	40656239	40656239	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:40656239G>A	ENST00000406785.2	-	2	1371	c.1182C>T	c.(1180-1182)caC>caT	p.H394H	SLC8A1_ENST00000332839.4_Silent_p.H394H|SLC8A1_ENST00000408028.2_Silent_p.H394H|SLC8A1_ENST00000406391.2_Silent_p.H394H|SLC8A1_ENST00000403092.1_Silent_p.H394H|SLC8A1_ENST00000402441.1_Silent_p.H394H|SLC8A1_ENST00000542024.1_Silent_p.H394H|SLC8A1_ENST00000542756.1_Silent_p.H394H|SLC8A1_ENST00000405901.3_Silent_p.H394H|SLC8A1_ENST00000405269.1_Silent_p.H394H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	NA					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGTTGACCTCGTGCATGCTGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	103	112			NA	NA	2		NA											NA				40656239		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023	6546	6546		Solute carriers	11068	protein-coding gene	gene with protein product	Na+/Ca++ exchanger	182305		NCX1	NA	1559714	Standard	NM_021097	NM_021097	NA	Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000406785.2:c.1182C>T	2.37:g.40656239G>A		NA	A8K6N1|D6W595|O95849|Q587I6|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	37	CCDS46264.1																																																																																			SLC8A1-005	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326025.2		-	ENST00000406785.2	Silent	SNP	2 : 40656239 - 40656239 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	456	16
SLFN5	162394	broad.mit.edu	37	17	33591445	33591445	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:33591445C>T	ENST00000542451.1	+	4	1251				SLFN5_ENST00000299977.4_Missense_Mutation_p.A461V			Q08AF3	SLFN5_HUMAN	schlafen family member 5	NA					cell differentiation		ATP binding	p.A461V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAGTGGGATGCGGGGTGCAAG	0.488		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)											106	101	102			NA	NA	17		NA											NA				33591445		2203	4300	6503	SO:0001627	intron_variant			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750	162394	162394			28286	protein-coding gene	gene with protein product		614952			NA	9846487	Standard	NM_144975	NM_144975	NA	Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000542451.1:c.1139-646C>T	17.37:g.33591445C>T		NA	Q08AF2|Q8WU54|Q96A82	37		.	.	.	.	.	.	.	.	.	.	c	10.19	1.281290	0.23392	.	.	ENSG00000166750	ENST00000299977	T	0.02103	4.45	3.46	-6.55	0.01854	.	3.058740	0.01369	N	0.012514	T	0.02688	0.0081	M	0.62723	1.935	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.43065	-0.9414	10	0.32370	T	0.25	.	2.054	0.03577	0.1462:0.4354:0.1471:0.2712	.	461	Q08AF3	SLFN5_HUMAN	V	461	ENSP00000299977:A461V	ENSP00000299977:A461V	A	+	2	0	SLFN5	30615558	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-2.060000	0.01392	-1.294000	0.02360	-0.302000	0.09304	GCG	SLFN5-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000448650.1		+	ENST00000542451.1	Intron	SNP	17 : 33591445 - 33591445 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	493	5
SMAD4	4089	broad.mit.edu	37	18	48593394	48593394	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr18:48593394A>T	ENST00000588745.1	+	6	857	c.857A>T	c.(856-858)cAc>cTc	p.H286L	SMAD4_ENST00000342988.3_Missense_Mutation_p.H382L|SMAD4_ENST00000398417.2_Missense_Mutation_p.H382L			Q13485	SMAD4_HUMAN	SMAD family member 4	382	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTAAGGTTGCACATAGGCAAA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											180	151	161			NA	NA	18		NA											NA				48593394		2203	4300	6503	SO:0001583	missense			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.857A>T	18.37:g.48593394A>T	ENSP00000464901:p.His286Leu	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.901257	0.92035	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98822	-5.16;-5.16	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99873	1.1099	10	0.87932	D	0	.	14.8693	0.70444	1.0:0.0:0.0:0.0	.	382	Q13485	SMAD4_HUMAN	L	382	ENSP00000341551:H382L;ENSP00000381452:H382L	ENSP00000341551:H382L	H	+	2	0	SMAD4	46847392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.236000	0.95360	2.151000	0.67156	0.460000	0.39030	CAC	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Missense_Mutation	SNP	18 : 48593394 - 48593394 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	462	17
SPTB	6710	broad.mit.edu	37	14	65260215	65260215	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:65260215C>T	ENST00000556626.1	-	14	2308	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	SPTB_ENST00000389722.3_Silent_p.S722S|SPTB_ENST00000389720.3_Silent_p.S722S|SPTB_ENST00000389721.5_Silent_p.S722S|SPTB_ENST00000542895.1_Silent_p.S722S			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	722					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCACTGTGCCGACACCTCCT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	54	55			NA	NA	14		NA											NA				65260215		2203	4300	6503	SO:0001819	synonymous_variant				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182	6710	6710		Pleckstrin homology (PH) domain containing	11274	protein-coding gene	gene with protein product	spherocytosis, clinical type I	182870			NA	2209094	Standard		NM_001024858	NA	Approved		uc001xhr.3	P11277		ENST00000556626.1:c.2166G>A	14.37:g.65260215C>T		NA	Q15510|Q15519	37	CCDS32099.1																																																																																			SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414076.1		-	ENST00000556626.1	Silent	SNP	14 : 65260215 - 65260215 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	356	11
SYNGAP1	8831	broad.mit.edu	37	6	33405686	33405686	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:33405686G>A	ENST00000418600.2	+	8	1105	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R335H|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R276H|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	335	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GACAAAAAGCGCAAGAAGGAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	69	71			NA	NA	6		NA											NA				33405686		2203	4300	6503	SO:0001583	missense			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283	8831	8831			11497	protein-coding gene	gene with protein product		603384	synaptic Ras GTPase activating protein 1 homolog (rat)		NA	9581761, 18323856	Standard	XM_166407	NM_006772	NA	Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1004G>A	6.37:g.33405686G>A	ENSP00000403636:p.Arg335His	NA	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763499	0.69763	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.40476	1.03;1.03;1.03	4.5	3.63	0.41609	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.41558	0.1164	L	0.44542	1.39	0.51482	D	0.999924	D;D;D;P	0.89917	1.0;1.0;1.0;0.889	D;D;D;P	0.87578	0.998;0.996;0.996;0.487	T	0.43877	-0.9364	10	0.87932	D	0	.	8.4886	0.33086	0.1058:0.0:0.8942:0.0	.	335;335;335;335	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	H	335;335;335;276	ENSP00000293748:R335H;ENSP00000403636:R335H;ENSP00000412475:R276H	ENSP00000293748:R335H	R	+	2	0	SYNGAP1	33513664	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.360000	0.44151	1.110000	0.41699	0.655000	0.94253	CGC	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076151.4		+	ENST00000418600.2	Missense_Mutation	SNP	6 : 33405686 - 33405686 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	526	7
SYT9	143425	broad.mit.edu	37	11	7334873	7334873	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:7334873G>A	ENST00000318881.6	+	3	982	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	SYT9_ENST00000396716.2_Missense_Mutation_p.A217T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	249	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.A249T(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAATTTGCCCGCCAAGGACTT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	pancreas(1)						G	THR/ALA	0,4402		0,0,2201	112	113	112		745	5.9	1	11		112	1,8591	1.2+/-3.3	0,1,4295	no	missense	SYT9	NM_175733.3	58	0,1,6496	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	249/492	7334873	1,12993	2201	4296	6497	SO:0001583	missense			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743	143425	143425		Synaptotagmins	19265	protein-coding gene	gene with protein product		613528			NA	11543631	Standard	NM_175733	NM_175733	NA	Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.745G>A	11.37:g.7334873G>A	ENSP00000324419:p.Ala249Thr	NA		37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000779	0.93227	0.0	1.16E-4	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.70282	-0.47;-0.47	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000001	T	0.82176	0.4980	M	0.75085	2.285	0.80722	D	1	D	0.60575	0.988	P	0.58331	0.837	D	0.83373	0.0008	10	0.87932	D	0	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	249	Q86SS6	SYT9_HUMAN	T	217;249	ENSP00000379944:A217T;ENSP00000324419:A249T	ENSP00000324419:A249T	A	+	1	0	SYT9	7291449	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GCC	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384483.1		+	ENST00000318881.6	Missense_Mutation	SNP	11 : 7334873 - 7334873 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	759	5
TATDN2	9797	broad.mit.edu	37	3	10312110	10312110	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:10312110G>A	ENST00000287652.4	+	4	2295	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	415						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.R415H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCCGGAGCCGCATGAGTGAT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											86	86	86			NA	NA	3		NA											NA				10312110		2203	4300	6503	SO:0001583	missense			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014	9797	9797			28988	protein-coding gene	gene with protein product					NA	9039502	Standard	XM_376203	NM_014760	NA	Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1244G>A	3.37:g.10312110G>A	ENSP00000287652:p.Arg415His	NA	Q3MIL9|Q5BKU0	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	8.315	0.822940	0.16678	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.43294	0.95;0.95	4.65	-7.6	0.01303	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15723	-1.0427	9	0.30854	T	0.27	-1.0794	1.7629	0.02995	0.2604:0.0815:0.319:0.3391	.	415	Q93075	TATD2_HUMAN	H	415	ENSP00000287652:R415H;ENSP00000408736:R415H	ENSP00000287652:R415H	R	+	2	0	TATDN2	10287110	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-0.096000	0.11059	-0.765000	0.04645	-0.280000	0.10049	CGC	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339641.1		+	ENST00000287652.4	Missense_Mutation	SNP	3 : 10312110 - 10312110 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	823	6
TCEAL3	85012	broad.mit.edu	37	X	102864204	102864204	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:102864204G>A	ENST00000372628.1	+	3	570	c.212G>A	c.(211-213)aGg>aAg	p.R71K	TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	71	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R71K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAGGGCAGGTCCGAAGGT	0.622		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)											145	115	125			NA	NA	X		NA											NA				102864204		2203	4300	6503	SO:0001583	missense			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507	85012	85012			28247	protein-coding gene	gene with protein product					NA	16221301	Standard	NM_032926	NM_032926	NA	Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.212G>A	X.37:g.102864204G>A	ENSP00000361711:p.Arg71Lys	NA	D3DXA4	37	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	0.539	-0.854668	0.02630	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.15834	2.39;2.39;2.39	3.81	2.63	0.31362	.	0.639125	0.12947	N	0.426153	T	0.02380	0.0073	N	0.00094	-2.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	10	0.02654	T	1	.	5.1568	0.15038	0.8655:0.0:0.1345:0.0	.	71	Q969E4	TCAL3_HUMAN	K	71	ENSP00000361711:R71K;ENSP00000361710:R71K;ENSP00000243286:R71K	ENSP00000243286:R71K	R	+	2	0	TCEAL3	102750860	0.801000	0.28930	0.066000	0.19879	0.005000	0.04900	1.150000	0.31639	0.659000	0.30945	-0.383000	0.06682	AGG	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057737.1		+	ENST00000372628.1	Missense_Mutation	SNP	X : 102864204 - 102864204 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	1037	7
TGM5	9333	broad.mit.edu	37	15	43527883	43527883	+	Nonsense_Mutation	SNP	G	G	A	rs144532387	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:43527883G>A	ENST00000220420.5	-	10	1505	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.R418*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	500					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACTGGGTCGAAGGGAAGGT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	117	103	108		1252,1498	5.6	0	15	dbSNP_134	108	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained,stop-gained	TGM5	NM_004245.3,NM_201631.3	,	0,2,6500	AA,AG,GG	NA	0.0116,0.0227,0.0154	,	418/639,500/721	43527883	2,13002	2203	4299	6502	SO:0001587	stop_gained			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055	9333	9333		Transglutaminases	11781	protein-coding gene	gene with protein product		603805			NA	9452468, 11390390	Standard	NM_004245	NM_201631	NA	Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1498C>T	15.37:g.43527883G>A	ENSP00000220420:p.Arg500*	NA	O43549|Q0VF40|Q9UEZ4	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771567	0.90108	2.27E-4	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	.	.	.	5.58	5.58	0.84498	.	1.990680	0.02559	N	0.096485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.2829	15.0606	0.71951	0.0:0.0:1.0:0.0	.	.	.	.	X	500;418;499	.	ENSP00000220420:R500X	R	-	1	2	TGM5	41315175	0.001000	0.12720	0.032000	0.17829	0.207000	0.24258	0.862000	0.27899	2.631000	0.89168	0.655000	0.94253	CGA	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000432257.1		-	ENST00000220420.5	Nonsense_Mutation	SNP	15 : 43527883 - 43527883 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	278	12
TLE3	7090	broad.mit.edu	37	15	70346894	70346894	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:70346894G>T	ENST00000558939.1	-	16	3095	c.1718C>A	c.(1717-1719)aCg>aAg	p.T573K	TLE3_ENST00000558201.1_Missense_Mutation_p.T579K|TLE3_ENST00000560589.1_Missense_Mutation_p.T517K|TLE3_ENST00000440567.3_Missense_Mutation_p.T563K|TLE3_ENST00000317509.8_Missense_Mutation_p.T561K|TLE3_ENST00000557907.1_Missense_Mutation_p.T565K|TLE3_ENST00000442299.2_Missense_Mutation_p.T565K|TLE3_ENST00000559048.1_Missense_Mutation_p.T573K|TLE3_ENST00000559929.1_Missense_Mutation_p.T583K|TLE3_ENST00000558379.1_Missense_Mutation_p.T568K|TLE3_ENST00000557997.1_Missense_Mutation_p.T565K|TLE3_ENST00000560939.1_Missense_Mutation_p.T575K|TLE3_ENST00000539550.1_Missense_Mutation_p.T500K|TLE3_ENST00000451782.2_Missense_Mutation_p.T570K|TLE3_ENST00000559191.1_Missense_Mutation_p.T154K	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	573					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCCGAGGACGTCAGCTCGGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	42	41			NA	NA	15		NA											NA				70346894		2192	4297	6489	SO:0001583	missense			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332	7090	7090		WD repeat domain containing	11839	protein-coding gene	gene with protein product		600190	transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)		NA	8365415	Standard	NM_005078	XM_005254623	NA	Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1718C>A	15.37:g.70346894G>T	ENSP00000452871:p.Thr573Lys	NA	Q8IVV6|Q8WVR2|Q9HCM5	37	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098445	0.94197	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D;P	0.74348	0.983;0.96;0.937;0.977;0.971;0.977;0.957;0.908	T	0.68209	-0.5469	10	0.49607	T	0.09	-5.6579	17.7019	0.88298	0.0:0.0:1.0:0.0	.	563;570;565;568;561;573;573;500	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	K	565;570;573;563;500	ENSP00000390007:T565K;ENSP00000394717:T570K;ENSP00000415057:T563K;ENSP00000442594:T500K	ENSP00000319233:T573K	T	-	2	0	TLE3	68133948	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	9.530000	0.98051	2.515000	0.84797	0.462000	0.41574	ACG	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416913.1		-	ENST00000558939.1	Missense_Mutation	SNP	15 : 70346894 - 70346894 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	259	13
TNRC6C	57690	broad.mit.edu	37	17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:76046827G>A	ENST00000588847.1	+	5	2411	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000335749.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	562	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTGGGGCCGCAAATCAGGA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA,THR/ALA	0,4056		0,0,2028	53	59	57		1684,1684	3.8	0.6	17		57	1,8375		0,1,4187	no	missense,missense	TNRC6C	NM_001142640.1,NM_018996.3	58,58	0,1,6215	AA,AG,GG	NA	0.0119,0.0,0.0080	benign,benign	562/1727,562/1691	76046827	1,12431	2028	4188	6216	SO:0001583	missense			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687	57690	57690		Trinucleotide (CAG) repeat containing	29318	protein-coding gene	gene with protein product		610741			NA		Standard	NM_018996	NM_018996	NA	Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588847.1:c.1684G>A	17.37:g.76046827G>A	ENSP00000467154:p.Ala562Thr	NA	Q86UE5|Q8N3D8|Q96MU9	37	CCDS45799.1	.	.	.	.	.	.	.	.	.	.	G	6.103	0.387346	0.11581	0.0	1.19E-4	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.51;2.51;2.5	5.75	3.79	0.43588	.	0.922167	0.09205	N	0.834117	T	0.10680	0.0261	L	0.29908	0.895	0.26878	N	0.9676	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.38286	-0.9668	10	0.13108	T	0.6	0.8073	10.4778	0.44676	0.2076:0.0:0.7924:0.0	.	562;562;562	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	T	562	ENSP00000336783:A562T;ENSP00000301624:A562T;ENSP00000440310:A562T;ENSP00000442421:A562T	ENSP00000301624:A562T	A	+	1	0	TNRC6C	73558422	0.864000	0.29904	0.557000	0.28306	0.995000	0.86356	3.175000	0.50855	0.800000	0.34041	0.655000	0.94253	GCA	TNRC6C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255891.4		+	ENST00000588847.1	Missense_Mutation	SNP	17 : 76046827 - 76046827 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	542	5
TTC40	0	broad.mit.edu	37	10	134660745	134660745	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:134660745C>T	ENST00000368586.5	-	42	6133	c.6033G>A	c.(6031-6033)ccG>ccA	p.P2011P	TTC40_ENST00000263170.5_Silent_p.P172P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN		172										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGAGGCCGGCGGGTCCCTGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	62	59			NA	NA	10		NA											NA				134660745		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000368586.5:c.6033G>A	10.37:g.134660745C>T		NA	Q5JSF7|Q9NTQ5	37	CCDS58101.1																																																																																			TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051095.3		-	ENST00000368586.5	Silent	SNP	10 : 134660745 - 134660745 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	539	7
UBN1	29855	broad.mit.edu	37	16	4924840	4924840	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:4924840G>A	ENST00000396658.4	+	14	3132	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	UBN1_ENST00000262376.6_Missense_Mutation_p.G810D|UBN1_ENST00000545171.1_Missense_Mutation_p.G810D|UBN1_ENST00000590769.1_Missense_Mutation_p.G810D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	810					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TTTCATGCCGGCACTCAGCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	80	78			NA	NA	16		NA											NA				4924840		2197	4300	6497	SO:0001583	missense			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900	29855	29855			12506	protein-coding gene	gene with protein product		609771			NA	10725330	Standard	NM_016936	XM_005255277	NA	Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2429G>A	16.37:g.4924840G>A	ENSP00000379894:p.Gly810Asp	NA	B7Z6D3|D3DUE8|Q13079|Q9P1P7	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639246	0.67244	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.32753	1.44;1.44;1.44	5.28	5.28	0.74379	.	0.072533	0.56097	D	0.000032	T	0.38188	0.1031	N	0.24115	0.695	0.19300	N	0.99998	D;D	0.63046	0.992;0.972	P;P	0.58660	0.74;0.843	T	0.20840	-1.0263	10	0.52906	T	0.07	-13.9626	17.2731	0.87107	0.0:0.0:1.0:0.0	.	810;810	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	D	810	ENSP00000262376:G810D;ENSP00000442379:G810D;ENSP00000379894:G810D	ENSP00000262376:G810D	G	+	2	0	UBN1	4864841	0.988000	0.35896	0.981000	0.43875	0.776000	0.43924	4.750000	0.62162	2.758000	0.94735	0.563000	0.77884	GGC	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251719.1		+	ENST00000396658.4	Missense_Mutation	SNP	16 : 4924840 - 4924840 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	836	7
USP29	57663	broad.mit.edu	37	19	57642253	57642253	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:57642253G>A	ENST00000254181.4	+	4	2664	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y	USP29_ENST00000598197.1_Missense_Mutation_p.C737Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	737					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAGCAGTGTATTGAGGAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	59	60			NA	NA	19		NA											NA				57642253		2203	4300	6503	SO:0001583	missense				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864	NA	57663		Ubiquitin-specific peptidases	18563	protein-coding gene	gene with protein product		609546	ubiquitin specific protease 29		NA	12838346	Standard		NM_020903	NA	Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2210G>A	19.37:g.57642253G>A	ENSP00000254181:p.Cys737Tyr	NA		37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.235668	0.00277	.	.	ENSG00000131864	ENST00000254181	T	0.41400	1.0	2.18	-3.46	0.04767	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.15089	0.0364	N	0.10916	0.065	0.09310	N	1	B	0.21381	0.055	B	0.22386	0.039	T	0.26916	-1.0089	9	0.09084	T	0.74	.	0.5372	0.00638	0.4081:0.1745:0.2268:0.1905	.	737	Q9HBJ7	UBP29_HUMAN	Y	737	ENSP00000254181:C737Y	ENSP00000254181:C737Y	C	+	2	0	USP29	62334065	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.000000	0.12993	-0.815000	0.04346	0.467000	0.42956	TGT	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465075.1		+	ENST00000254181.4	Missense_Mutation	SNP	19 : 57642253 - 57642253 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	466	26
ZNF285	26974	broad.mit.edu	37	19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	rs79240579	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:44892085T>A	ENST00000330997.4	-	4	386	c.322A>T	c.(322-324)Agt>Tgt	p.S108C	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C	NM_152354.3	NP_689567.3			zinc finger protein 285	NA										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTCTTCACTGAGGGAAACA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	89	89			NA	NA	19		NA											NA				44892085		2203	4300	6503	SO:0001583	missense			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508	26974	26974		Zinc fingers, C2H2-type, -	13079	protein-coding gene	gene with protein product			zinc finger protein 285A	ZNF285A	NA		Standard	NM_152354	XM_005258734	NA	Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.322A>T	19.37:g.44892085T>A	ENSP00000333595:p.Ser108Cys	NA		37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	5.371	0.253712	0.10185	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05717	3.4	3.22	1.05	0.20165	.	.	.	.	.	T	0.02119	0.0066	N	0.01668	-0.77	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43814	-0.9368	9	0.49607	T	0.09	.	2.7258	0.05213	0.644:0.0:0.1304:0.2256	.	132;108	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	C	131;108	ENSP00000333595:S108C	ENSP00000333595:S108C	S	-	1	0	ZNF285	49583925	0.000000	0.05858	0.023000	0.16930	0.271000	0.26615	0.103000	0.15292	0.036000	0.15547	-0.610000	0.04054	AGT	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443600.1		-	ENST00000330997.4	Missense_Mutation	SNP	19 : 44892085 - 44892085 A PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	774	6
ZNF335	63925	broad.mit.edu	37	20	44578999	44578999	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:44578999C>T	ENST00000322927.2	-	22	3446	c.3346G>A	c.(3346-3348)Ggg>Agg	p.G1116R	ZNF335_ENST00000426788.1_Missense_Mutation_p.G961R	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1116W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTGAGGTGCCCGTTACGGTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											97	100	99			NA	NA	20		NA											NA				44578999		2203	4300	6503	SO:0001583	missense			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026	63925	63925		Zinc fingers, C2H2-type	15807	protein-coding gene	gene with protein product	NRC-interacting factor 1	610827			NA	12215545, 19131338	Standard	NM_022095	NM_022095	NA	Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3346G>A	20.37:g.44578999C>T	ENSP00000325326:p.Gly1116Arg	NA	B4DLG7|Q548D0|Q9H684	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302358	0.60195	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.10192	3.05;2.9	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.03077	-1.1075	10	0.72032	D	0.01	-33.3619	17.0199	0.86431	0.0:1.0:0.0:0.0	.	961;1116	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	R	1116;893;961	ENSP00000325326:G1116R;ENSP00000397098:G961R	ENSP00000243961:G893R	G	-	1	0	ZNF335	44012406	1.000000	0.71417	0.964000	0.40570	0.400000	0.30750	7.178000	0.77657	2.585000	0.87301	0.655000	0.94253	GGG	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079553.1		-	ENST00000322927.2	Missense_Mutation	SNP	20 : 44578999 - 44578999 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	799	59
ZNF473	25888	broad.mit.edu	37	19	50548290	50548290	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:50548290G>T	ENST00000595661.1	+	6	1085	c.590G>T	c.(589-591)aGc>aTc	p.S197I	ZNF473_ENST00000391821.2_Missense_Mutation_p.S197I|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.S185I|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.S197I|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	197					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCCGACCACAGCCAGCAGGAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	61	63			NA	NA	19		NA											NA				50548290		2203	4300	6503	SO:0001583	missense			AB032967	CCDS33077.1	19q13.33	2013-01-08					25888	25888		Zinc fingers, C2H2-type, -	23239	protein-coding gene	gene with protein product					NA	11782445	Standard	XM_046390	NM_015428	NA	Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.590G>T	19.37:g.50548290G>T	ENSP00000472808:p.Ser197Ile	NA	A8K8T7|Q9ULS9|Q9Y4Q7	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391145	0.42410	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09817	3.01;3.01;2.94	4.36	0.983	0.19767	.	0.440569	0.19421	N	0.114692	T	0.07413	0.0187	L	0.29908	0.895	0.28136	N	0.929982	P	0.50943	0.94	P	0.45037	0.467	T	0.27606	-1.0069	10	0.15499	T	0.54	-6.7845	6.053	0.19796	0.1824:0.158:0.6596:0.0	.	197	Q8WTR7	ZN473_HUMAN	I	197;197;185	ENSP00000270617:S197I;ENSP00000375697:S197I;ENSP00000388961:S185I	ENSP00000270617:S197I	S	+	2	0	ZNF473	55240102	.	.	0.124000	0.21820	0.120000	0.20174	.	.	0.336000	0.23639	0.655000	0.94253	AGC	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464833.1		+	ENST00000595661.1	Missense_Mutation	SNP	19 : 50548290 - 50548290 T PAAD-TCGA-HZ-8317-Tumor-SM-3MVDD	429	14
