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
ASTN2	23245	broad.mit.edu	37	9	119903693	119903693	+	Silent	SNP	G	G	A	rs115011238	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:119903693G>A	ENST00000361209.2	-	4	1147				ASTN2_ENST00000373996.3_Silent_p.R360R|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Silent_p.R360R	NM_014010.4	NP_054729.3	O75129	ASTN2_HUMAN	astrotactin 2	NA						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCGTGTTAGCGCGGAAACTCT	0.587		NA											G	7	0.0032	0.01	NA	2184	NA	0.9998	,	,	NA	5e-04	NA	NA	NA	0.0033	0.9755	LOWCOV	NA	NA	8e-04	SNP								NA				0								G		16,4390	22.3+/-47.3	0,16,2187	103	85	91			-8.2	0.7	9	dbSNP_132	91	0,8600		0,0,4300	no	intron	ASTN2	NM_014010.4		0,16,6487	AA,AG,GG	NA	0.0,0.3631,0.123			119903693	16,12990	2203	4300	6503	SO:0001627	intron_variant			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219	23245	23245			17021	protein-coding gene	gene with protein product		612856			NA	9734811	Standard	NM_014010	NM_014010	NA	Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000361209.2:c.1016-45263C>T	9.37:g.119903693G>A		NA	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	37	CCDS6815.1																																																																																			ASTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055428.2		-	ENST00000361209.2	Intron	SNP	9 : 119903693 - 119903693 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	259	19
ATL1	51062	broad.mit.edu	37	14	51094836	51094836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:51094836C>T	ENST00000441560.2	+	13	1688	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	ATL1_ENST00000354525.4_Nonsense_Mutation_p.R403*|ATL1_ENST00000358385.6_Nonsense_Mutation_p.R403*|ATL1_ENST00000357032.3_Nonsense_Mutation_p.R403*	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	403					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GAAGCTATTCCGAGGGGTGAA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	14		NA											NA				51094836		2203	4300	6503	SO:0001587	stop_gained			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513	51062	51062			11231	protein-coding gene	gene with protein product	atlastin	606439	spastic paraplegia 3A (autosomal dominant)	SPG3, SPG3A	NA	8252041, 7825576	Standard		NM_015915	NA	Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000441560.2:c.1207C>T	14.37:g.51094836C>T	ENSP00000413675:p.Arg403*	NA	A6NND5|A8K2C0|O95890|Q96FK0	37	CCDS32077.1	.	.	.	.	.	.	.	.	.	.	C	40	8.204160	0.98704	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-6.6736	19.2865	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	403	.	ENSP00000346522:R403X	R	+	1	2	ATL1	50164586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.936000	0.63506	2.802000	0.96397	0.655000	0.94253	CGA	ATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410925.1		+	ENST00000441560.2	Nonsense_Mutation	SNP	14 : 51094836 - 51094836 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	386	26
ATP8A1	10396	broad.mit.edu	37	4	42627669	42627669	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:42627669C>T	ENST00000381668.5	-	3	457	c.226G>A	c.(226-228)Gct>Act	p.A76T	ATP8A1_ENST00000510289.1_3'UTR|ATP8A1_ENST00000264449.10_Missense_Mutation_p.A76T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	76					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAATTAGCAGCTCTTCTGAAC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	97	97			NA	NA	4		NA											NA				42627669		2203	4300	6503	SO:0001583	missense			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406	10396	10396		ATPases / P-type	13531	protein-coding gene	gene with protein product		609542	ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1		NA	10198212, 9548971	Standard	NM_006095	NM_006095	NA	Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.226G>A	4.37:g.42627669C>T	ENSP00000371084:p.Ala76Thr	NA	Q32M36|Q4W5J7|Q4W5P2	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644594	0.67358	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.54479	0.57;0.57	5.8	5.8	0.92144	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.39467	1.215	0.80722	D	1	D;B;B	0.63880	0.993;0.35;0.209	D;B;B	0.68192	0.956;0.299;0.097	T	0.61377	-0.7075	10	0.41790	T	0.15	.	20.418	0.99029	0.0:1.0:0.0:0.0	.	76;76;76	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	T	76	ENSP00000371084:A76T;ENSP00000264449:A76T	ENSP00000264449:A76T	A	-	1	0	ATP8A1	42322426	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.370000	0.79589	2.902000	0.99343	0.650000	0.86243	GCT	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216861.2		-	ENST00000381668.5	Missense_Mutation	SNP	4 : 42627669 - 42627669 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	353	25
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103514870	103514870	+	Missense_Mutation	SNP	C	C	T	rs149867583	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:103514870C>T	ENST00000602836.1	+	16	2647	c.2647C>T	c.(2647-2649)Cgt>Tgt	p.R883C	ERCC5_ENST00000355739.4_Silent_p.H457H	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN	BIVM-ERCC5 readthrough	0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding				NA						CAGAGGAGCACGTAGCCAGCA	0.478		NA											T	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	0.001	SNP								NA				0													76	69	72			NA	NA	13		NA											NA				103514870		2203	4300	6503	SO:0001583	missense			AB209312		13q33.1	2013-05-10			ENSG00000270181	ENSG00000270181	100533467	100533467			43690	other	readthrough					NA		Standard	NM_001204425	NM_001204425	NA	Approved				OTTHUMG00000184166	ENST00000602836.1:c.2647C>T	13.37:g.103514870C>T	ENSP00000473384:p.Arg883Cys	NA		37																																																																																				BIVM-ERCC5-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000468168.1		+	ENST00000602836.1	Missense_Mutation	SNP	13 : 103514870 - 103514870 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	316	19
CABP5	56344	broad.mit.edu	37	19	48537514	48537514	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:48537514G>A	ENST00000293255.2	-	5	584	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	152	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCAGCCTCCCGGACAACCTCA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	41	43			NA	NA	19		NA											NA				48537514		2203	4300	6503	SO:0001583	missense			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507	56344	56344		EF-hand domain containing	13714	protein-coding gene	gene with protein product		607315	calcium binding protein 3	CABP3	NA	10625670	Standard	NM_019855	NM_019855	NA	Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.454C>T	19.37:g.48537514G>A	ENSP00000293255:p.Arg152Trp	NA	A0AUY4	37	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197685	0.79015	.	.	ENSG00000105507	ENST00000293255	T	0.73469	-0.75	5.01	5.01	0.66863	EF-hand-like domain (1);	0.424187	0.24642	N	0.036784	D	0.82393	0.5027	M	0.79926	2.475	0.42202	D	0.991774	D	0.54207	0.965	P	0.51777	0.679	D	0.85894	0.1430	10	0.87932	D	0	-0.4457	16.1949	0.82021	0.0:0.0:1.0:0.0	.	152	Q9NP86	CABP5_HUMAN	W	152	ENSP00000293255:R152W	ENSP00000293255:R152W	R	-	1	2	CABP5	53229326	0.002000	0.14202	0.723000	0.30687	0.981000	0.71138	0.819000	0.27308	2.509000	0.84616	0.561000	0.74099	CGG	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465212.1		-	ENST00000293255.2	Missense_Mutation	SNP	19 : 48537514 - 48537514 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	269	27
CCDC18	343099	broad.mit.edu	37	1	93672842	93672842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:93672842G>T	ENST00000343253.7	+	9	1598	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	CCDC18_ENST00000401026.3_Nonsense_Mutation_p.E366*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.E484*|CCDC18_ENST00000338949.4_Nonsense_Mutation_p.E165*|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	366										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAAACCGAGAATTAAAGGT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	70	71			NA	NA	1		NA											NA				93672842		1835	4091	5926	SO:0001587	stop_gained					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483	343099	343099			30370	protein-coding gene	gene with protein product					NA	12601173	Standard	NM_206886	XM_006710609	NA	Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1096G>T	1.37:g.93672842G>T	ENSP00000343377:p.Glu366*	NA	Q6ZU17	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.984821|5.984821	0.97173|0.97173	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.164121|0.164121	0.52532|0.52532	D|D	0.000077|0.000077	T|.	0.59783|.	0.2219|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53085|.	-0.8488|.	5|.	.|0.22109	.|T	.|0.4	.|.	18.2995|18.2995	0.90158|0.90158	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	419|366;366;484;165;86	.|.	.|ENSP00000344380:E165X	E|E	+|+	3|1	2|0	CCDC18|CCDC18	93445430|93445430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.263000|4.263000	0.58853|0.58853	2.763000|2.763000	0.94921|0.94921	0.555000|0.555000	0.69702|0.69702	GAG|GAA	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000382327.1		+	ENST00000343253.7	Nonsense_Mutation	SNP	1 : 93672842 - 93672842 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	283	17
CDH10	1008	broad.mit.edu	37	5	24535262	24535262	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:24535262G>A	ENST00000264463.4	-	5	1280	c.773C>T	c.(772-774)aCg>aTg	p.T258M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	258	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCTGTCAGCGTGATGTTCAC	0.483		NA								HNSCC(23;0.051)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	158	172			NA	NA	5		NA											NA				24535262		2203	4300	6503	SO:0001583	missense			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731	1008	1008		Cadherins / Major cadherins	1749	protein-coding gene	gene with protein product		604555			NA	2059658	Standard	NM_006727	NM_006727	NA	Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.773C>T	5.37:g.24535262G>A	ENSP00000264463:p.Thr258Met	NA	Q9ULB3	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319154	0.60524	.	.	ENSG00000040731	ENST00000264463	T	0.03004	4.08	5.67	5.67	0.87782	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.52011	1.625	0.46478	D	0.99906	D	0.89917	1.0	D	0.71184	0.972	T	0.00062	-1.2157	10	0.66056	D	0.02	.	18.738	0.91763	0.0:0.0:1.0:0.0	.	258	Q9Y6N8	CAD10_HUMAN	M	258	ENSP00000264463:T258M	ENSP00000264463:T258M	T	-	2	0	CDH10	24571019	1.000000	0.71417	0.996000	0.52242	0.246000	0.25737	7.884000	0.87274	2.674000	0.91012	0.591000	0.81541	ACG	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207345.2		-	ENST00000264463.4	Missense_Mutation	SNP	5 : 24535262 - 24535262 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	369	20
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971004	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:21971003_21971004insA	ENST00000479692.2	-	2	215_216	c.201_202insT	c.(199-204)gctgagfs	p.E68fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Stop_Codon_Ins|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000361570.3_Stop_Codon_Ins|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000579755.1_Stop_Codon_Ins|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.E119fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCCA	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1369	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(4)|Substitution - Missense(2)|Deletion - Frameshift(1)|Complex - frameshift(1)|Nonstop extension(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.202dupT	9.37:g.21971004_21971004dupA	ENSP00000466887:p.Glu68fs	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37																																																																																				CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Frame_Shift_Ins	INS	9 : 21971003 - 21971004 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	197	30
CEP170B	283638	broad.mit.edu	37	14	105346747	105346747	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:105346747C>T	ENST00000414716.3	+	6	685	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	CEP170B_ENST00000418279.1_Missense_Mutation_p.R83W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R83W|CEP170B_ENST00000453495.1_Missense_Mutation_p.R153W	NM_001112726.2	NP_001106197.1			centrosomal protein 170B	NA											NA						GAAGGGGGACCGGAGACCAGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	67	61			NA	NA	14		NA											NA				105346747		2131	4229	6360	SO:0001583	missense			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814	283638	283638			20362	protein-coding gene	gene with protein product	Cep170-related		KIAA0284	KIAA0284	NA	23087211	Standard	NM_001112726	NM_015005	NA	Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.457C>T	14.37:g.105346747C>T	ENSP00000404151:p.Arg153Trp	NA		37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358394	0.61403	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.21	4.21	0.49690	.	0.074599	0.47455	D	0.000226	T	0.58466	0.2124	M	0.66939	2.045	0.33258	D	0.559355	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.976;0.984	T	0.70234	-0.4928	10	0.87932	D	0	-29.2601	9.6859	0.40098	0.2719:0.7281:0.0:0.0	.	153;153;83	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	83;153;153;83	ENSP00000451249:R83W;ENSP00000404151:R153W;ENSP00000407238:R153W;ENSP00000415006:R83W	ENSP00000404151:R153W	R	+	1	2	KIAA0284	104417792	1.000000	0.71417	0.990000	0.47175	0.781000	0.44180	2.887000	0.48586	2.167000	0.68274	0.313000	0.20887	CGG	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410289.2		+	ENST00000414716.3	Missense_Mutation	SNP	14 : 105346747 - 105346747 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	139	19
CHST11	50515	broad.mit.edu	37	12	105150940	105150940	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:105150940G>A	ENST00000303694.5	+	3	857	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	CHST11_ENST00000549260.1_Missense_Mutation_p.G135R	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	140					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGTCCTGACCGGGCGGGGGAA	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	65	64			NA	NA	12		NA											NA				105150940		2203	4300	6503	SO:0001583	missense			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	50515	50515	2.8.2.5	Sulfotransferases, membrane-bound	17422	protein-coding gene	gene with protein product		610128			NA	10781601	Standard	NM_018413	NM_018413	NA	Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.418G>A	12.37:g.105150940G>A	ENSP00000305725:p.Gly140Arg	NA	A8K4F8|Q9NXY6|Q9NY36	37	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834370	0.91036	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.73789	-0.78;-0.78;-0.78	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89259	0.6664	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91028	0.4862	10	0.87932	D	0	-15.1321	19.4315	0.94772	0.0:0.0:1.0:0.0	.	135;140	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	R	135;140;100	ENSP00000450004:G135R;ENSP00000305725:G140R;ENSP00000449095:G100R	ENSP00000305725:G140R	G	+	1	0	CHST11	103675070	1.000000	0.71417	0.928000	0.36995	0.997000	0.91878	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	GGG	CHST11-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405960.2		+	ENST00000303694.5	Missense_Mutation	SNP	12 : 105150940 - 105150940 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	402	27
CLEC4M	10332	broad.mit.edu	37	19	7833838	7833838	+	Silent	SNP	C	C	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:7833838C>A	ENST00000327325.5	+	7	1282	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	CLEC4M_ENST00000248228.4_Silent_p.I366I|CLEC4M_ENST00000334806.5_Silent_p.I337I|CLEC4M_ENST00000595496.1_Silent_p.I252I|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596707.1_Silent_p.I321I|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000394122.2_Silent_p.I376I|CLEC4M_ENST00000359059.5_Silent_p.I321I|CLEC4M_ENST00000596363.1_3'UTR	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	388	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ATTACTGGATCTGCAAAAAGC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													179	146	157			NA	NA	19		NA											NA				7833838		2203	4300	6503	SO:0001819	synonymous_variant			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938	10332	10332		C-type lectin domain containing, CD molecules	13523	protein-coding gene	gene with protein product		605872	CD299 antigen	CD209L, CD299	NA	10072769	Standard	NM_014257	NM_001144904	NA	Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1164C>A	19.37:g.7833838C>A		NA	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	37	CCDS12187.1																																																																																			CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461161.1		+	ENST00000327325.5	Silent	SNP	19 : 7833838 - 7833838 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	455	26
CSK	1445	broad.mit.edu	37	15	75091650	75091650	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:75091650C>T	ENST00000220003.9	+	5	1009	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSK_ENST00000567571.1_Missense_Mutation_p.R94W|CSK_ENST00000439220.2_Missense_Mutation_p.R94W|CSK_ENST00000309470.9_Missense_Mutation_p.R94W	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	94	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GCAGGCTGAGCGGCTTCTGTA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	51	52			NA	NA	15		NA											NA				75091650		2197	4296	6493	SO:0001583	missense				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	1445	1445	2.7.10.1	SH2 domain containing	2444	protein-coding gene	gene with protein product		124095			NA	1377109	Standard	NM_004383	NM_004383	NA	Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.280C>T	15.37:g.75091650C>T	ENSP00000220003:p.Arg94Trp	NA	Q2M3N2|Q6FGZ6	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086457	0.76642	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000309470	D;D;D	0.89875	-2.58;-2.58;-2.58	4.63	2.6	0.31112	SH2 motif (5);	0.068217	0.64402	D	0.000020	D	0.93148	0.7818	M	0.85373	2.75	0.80722	D	1	D	0.69078	0.997	P	0.58928	0.848	D	0.93959	0.7239	10	0.87932	D	0	-21.5651	13.0337	0.58859	0.3937:0.6063:0.0:0.0	.	94	P41240	CSK_HUMAN	W	94	ENSP00000220003:R94W;ENSP00000414764:R94W;ENSP00000438808:R94W	ENSP00000220003:R94W	R	+	1	2	CSK	72878703	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.164000	0.31810	1.148000	0.42385	-0.500000	0.04577	CGG	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286398.2		+	ENST00000220003.9	Missense_Mutation	SNP	15 : 75091650 - 75091650 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	292	17
CUL9	23113	broad.mit.edu	37	6	43155033	43155033	+	Silent	SNP	G	G	A	rs148427416		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:43155033G>A	ENST00000372647.2	+	6	1511	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000252050.4_Silent_p.P479P|CUL9_ENST00000354495.3_Intron			Q8IWT3	CUL9_HUMAN	cullin 9	479					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCCTTTGCCGTACCTCCAGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	163	155	157		1437	-2.6	1	6	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUL9	NM_015089.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		479/2518	43155033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659	23113	23113			15982	protein-coding gene	gene with protein product	parkin-like cytoplasmic p53 binding protein, p53-associated parkin-like cytoplasmic protein	607489			NA	17332328, 10521492, 12526791	Standard	NM_015089	NM_015089	NA	Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000372647.2:c.1437G>A	6.37:g.43155033G>A		NA	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	37																																																																																				CUL9-005	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000358329.1		+	ENST00000372647.2	Silent	SNP	6 : 43155033 - 43155033 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	832	50
DDR2	4921	broad.mit.edu	37	1	162688902	162688902	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:162688902A>G	ENST00000367922.3	+	4	487	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	DDR2_ENST00000367921.3_Missense_Mutation_p.I17V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	NA					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCTGCTGCCTATCTTGAGTTC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(161;314 2006 8283 19651 23192)							NA				0													193	166	175			NA	NA	1		NA											NA				162688902		2203	4300	6503	SO:0001583	missense			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	4921	4921	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	discoidin domain receptor family, member 2	TYRO10, NTRKR3	NA	9659899	Standard	NM_006182	XM_005245221	NA	Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.49A>G	1.37:g.162688902A>G	ENSP00000356899:p.Ile17Val	NA	Q7Z730	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	A	2.456	-0.325175	0.05350	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.97642	-4.2;-4.47;-1.68;-1.68	4.25	-2.92	0.05615	.	0.491466	0.19764	N	0.106619	T	0.82226	0.4991	N	0.25647	0.755	0.26350	N	0.977213	B	0.06786	0.001	B	0.04013	0.001	T	0.68622	-0.5360	9	0.19590	T	0.45	.	2.942	0.05834	0.3119:0.45:0.0921:0.146	.	17	Q16832	DDR2_HUMAN	V	17	ENSP00000400309:I17V;ENSP00000391310:I17V;ENSP00000356899:I17V;ENSP00000356898:I17V	ENSP00000356898:I17V	I	+	1	0	DDR2	160955526	0.076000	0.21285	0.303000	0.25071	0.931000	0.56810	-0.197000	0.09518	-0.682000	0.05197	-0.605000	0.04089	ATC	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083213.2		+	ENST00000367922.3	Missense_Mutation	SNP	1 : 162688902 - 162688902 G PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	551	59
DDX4	54514	broad.mit.edu	37	5	55059848	55059848	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:55059848C>G	ENST00000505374.1	+	6	382	c.290C>G	c.(289-291)tCa>tGa	p.S97*	DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S97*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S97*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S97*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	97	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAGGTTTTTCAAACAGCAGG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	134	133			NA	NA	5		NA											NA				55059848		2203	4300	6503	SO:0001587	stop_gained			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670	54514	54514		DEAD-boxes	18700	protein-coding gene	gene with protein product		605281	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4		NA	10920202, 11850529	Standard	NM_024415	NM_001142549	NA	Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.290C>G	5.37:g.55059848C>G	ENSP00000424838:p.Ser97*	NA	A8K8Q2|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473344	0.96274	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	.	.	.	4.82	2.93	0.34026	.	1.124900	0.06856	N	0.798125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-22.8246	5.4174	0.16382	0.0:0.7133:0.0:0.2867	.	.	.	.	X	97;97;97;97;71;97;97;97;97	.	ENSP00000334167:S97X	S	+	2	0	DDX4	55095605	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.097000	0.30988	0.534000	0.28695	0.591000	0.81541	TCA	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214147.2		+	ENST00000505374.1	Nonsense_Mutation	SNP	5 : 55059848 - 55059848 G PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	372	14
ERBB4	2066	broad.mit.edu	37	2	212589903	212589903	+	Silent	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:212589903A>G	ENST00000342788.4	-	6	949	c.639T>C	c.(637-639)tgT>tgC	p.C213C	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Silent_p.C213C|ERBB4_ENST00000436443.1_Silent_p.C213C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	213	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATTGTTCTGCACACACCGTCC	0.507		NA								TSP Lung(8;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	121	127			NA	NA	2		NA											NA				212589903		2203	4300	6503	SO:0001819	synonymous_variant			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	2066	2066			3432	protein-coding gene	gene with protein product		600543	v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4		NA	7700649, 17018285	Standard	NM_001042599	NM_001042599	NA	Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.639T>C	2.37:g.212589903A>G		NA	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513447	0.27123	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.73	3.36	0.38483	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53365	-0.8449	4	.	.	.	.	8.2245	0.31560	0.7842:0.0:0.2158:0.0	.	.	.	.	A	213	.	.	V	-	2	0	ERBB4	212298148	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.777000	0.38604	0.983000	0.38602	0.528000	0.53228	GTG	ERBB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256597.1		-	ENST00000342788.4	Silent	SNP	2 : 212589903 - 212589903 G PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	485	22
FLT3	2322	broad.mit.edu	37	13	28622533	28622533	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:28622533C>T	ENST00000241453.7	-	9	1165	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	FLT3_ENST00000380982.4_Missense_Mutation_p.D362N|FLT3_ENST00000537084.1_Missense_Mutation_p.D362N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	362					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTGGTCAATTTCATAA	0.323		NA	Mis, O		AML, ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													97	96	96			NA	NA	13		NA											NA				28622533		2203	4300	6503	SO:0001583	missense			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2322	2322	2.7.10.1	CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	3765	protein-coding gene	gene with protein product		136351			NA	8394751	Standard		NM_004119	NA	Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1084G>A	13.37:g.28622533C>T	ENSP00000241453:p.Asp362Asn	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896911	0.52121	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.76060	-0.92;-0.99;-0.7	5.45	5.45	0.79879	Immunoglobulin-like fold (1);	0.263771	0.32901	N	0.005511	T	0.69931	0.3166	L	0.27053	0.805	0.34801	D	0.736766	D;D	0.58620	0.966;0.983	P;P	0.51742	0.678;0.58	T	0.69412	-0.5152	10	0.10111	T	0.7	.	17.4634	0.87626	0.0:1.0:0.0:0.0	.	362;362	P36888-2;P36888	.;FLT3_HUMAN	N	362	ENSP00000241453:D362N;ENSP00000370369:D362N;ENSP00000438139:D362N	ENSP00000241453:D362N	D	-	1	0	FLT3	27520533	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.429000	0.52800	2.572000	0.86782	0.462000	0.41574	GAC	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044319.2		-	ENST00000241453.7	Missense_Mutation	SNP	13 : 28622533 - 28622533 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	261	33
FOXS1	2307	broad.mit.edu	37	20	30432695	30432695	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:30432695C>T	ENST00000375978.3	-	1	725	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	217					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GAAAGCCAAACGCTGGGCATG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	45	45			NA	NA	20		NA											NA				30432695		2203	4300	6503	SO:0001819	synonymous_variant			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772	2307	2307		Forkhead boxes	3735	protein-coding gene	gene with protein product		602939	forkhead (Drosophila)-like 18, forkhead-like 18 (Drosophila)	FKHL18	NA	9325056, 17062144	Standard	NM_004118	NM_004118	NA	Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.651G>A	20.37:g.30432695C>T		NA	Q96D28	37	CCDS13192.1																																																																																			FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078560.2		-	ENST00000375978.3	Silent	SNP	20 : 30432695 - 30432695 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	351	37
GIF	2694	broad.mit.edu	37	11	59596985	59596985	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:59596985T>C	ENST00000257248.2	-	9	1273	c.1226A>G	c.(1225-1227)cAc>cGc	p.H409R	GIF_ENST00000541311.1_Missense_Mutation_p.H384R	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	409					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGCTGTGATGTGCTCGTGGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(53;1139 1245 16872 38474 42853)							NA				0													224	175	192			NA	NA	11		NA											NA				59596985		2201	4295	6496	SO:0001583	missense			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812	2694	2694			4268	protein-coding gene	gene with protein product		609342			NA	2071148	Standard	NM_005142	NM_005142	NA	Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1226A>G	11.37:g.59596985T>C	ENSP00000257248:p.His409Arg	NA	B2RAN8|B4DVZ1	37	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182767	0.78677	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.41065	1.1;1.01	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.52435	0.1734	L	0.50333	1.59	0.44439	D	0.997368	D	0.71674	0.998	P	0.57283	0.817	T	0.51631	-0.8681	10	0.48119	T	0.1	-27.71	13.0268	0.58819	0.0:0.0:0.0:1.0	.	409	P27352	IF_HUMAN	R	409;384	ENSP00000257248:H409R;ENSP00000440427:H384R	ENSP00000257248:H409R	H	-	2	0	GIF	59353561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.670000	0.54569	2.330000	0.79161	0.477000	0.44152	CAC	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000394497.1		-	ENST00000257248.2	Missense_Mutation	SNP	11 : 59596985 - 59596985 C PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	273	17
HELQ	113510	broad.mit.edu	37	4	84353360	84353360	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:84353360C>T	ENST00000510985.1	-	9	2037	c.1908G>A	c.(1906-1908)caG>caA	p.Q636Q	HELQ_ENST00000295488.3_Silent_p.Q703Q			Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	703	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGCCAATCATCTGTTTATATT	0.358		NA						Other identified genes with known or suspected DNA repair function						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	101	101			NA	NA	4		NA											NA				84353360		2203	4300	6503	SO:0001819	synonymous_variant			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312	113510	113510			18536	protein-coding gene	gene with protein product		606769			NA	11751861	Standard	NM_133636	XM_005262711	NA	Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000510985.1:c.1908G>A	4.37:g.84353360C>T		NA	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	37																																																																																				HELQ-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000363955.1		-	ENST00000510985.1	Silent	SNP	4 : 84353360 - 84353360 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	381	20
IP6K2	51447	broad.mit.edu	37	3	48726088	48726088	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:48726088C>T	ENST00000328631.5	-	6	1122	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	300					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GAGTTCACGGCGCAGGTACCG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	97	101			NA	NA	3		NA											NA				48726088		2203	4300	6503	SO:0001583	missense			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745	51447	51447			17313	protein-coding gene	gene with protein product		606992	inositol hexaphosphate kinase 2	IHPK2	NA	10574768	Standard	NM_016291	NM_016291	NA	Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.899G>A	3.37:g.48726088C>T	ENSP00000331103:p.Arg300His	NA	Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	37	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867840	0.91587	.	.	ENSG00000068745	ENST00000328631	T	0.19105	2.17	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61657	-0.7018	10	0.72032	D	0.01	-3.6578	14.8375	0.70194	0.0:0.9314:0.0:0.0686	.	300	Q9UHH9	IP6K2_HUMAN	H	300	ENSP00000331103:R300H	ENSP00000331103:R300H	R	-	2	0	IP6K2	48701092	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	1.451000	0.47736	0.655000	0.94253	CGC	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257521.2		-	ENST00000328631.5	Missense_Mutation	SNP	3 : 48726088 - 48726088 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	458	21
KCNK13	56659	broad.mit.edu	37	14	90650874	90650874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:90650874G>T	ENST00000282146.4	+	2	1195	c.754G>T	c.(754-756)Gag>Tag	p.E252*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	252						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGCCCACTATGAGAGCCAAGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	104	108			NA	NA	14		NA											NA				90650874		2203	4300	6503	SO:0001587	stop_gained			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315	56659	56659		Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P	6275	protein-coding gene	gene with protein product		607367			NA	11060316, 16382106	Standard	NM_022054	NM_022054	NA	Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.754G>T	14.37:g.90650874G>T	ENSP00000282146:p.Glu252*	NA	Q96E79	37	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158982	0.94686	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.42	2.49	0.30216	.	0.955768	0.08571	N	0.926120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	8.8689	0.35303	0.1376:0.1231:0.7393:0.0	.	.	.	.	X	252	.	ENSP00000282146:E252X	E	+	1	0	KCNK13	89720627	0.999000	0.42202	0.003000	0.11579	0.127000	0.20565	4.148000	0.58085	0.655000	0.30866	-0.137000	0.14449	GAG	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411251.1		+	ENST00000282146.4	Nonsense_Mutation	SNP	14 : 90650874 - 90650874 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	535	32
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	146	17
MAP2	4133	broad.mit.edu	37	2	210559008	210559008	+	Missense_Mutation	SNP	C	C	T	rs146432517		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:210559008C>T	ENST00000360351.4	+	7	2620	c.2114C>T	c.(2113-2115)cCg>cTg	p.P705L	MAP2_ENST00000447185.1_Missense_Mutation_p.P701L|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	705			P -> L (in a colorectal cancer sample; somatic mutation).		central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.P705L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATCAATTTGCCGATGTCTTGC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(27;423 979 28787 29963)							NA				1	Substitution - Missense(1)	large_intestine(1)						C	,LEU/PRO,,	0,4406		0,0,2203	241	231	234		,2114,,	6.1	1	2	dbSNP_134	234	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,98,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,probably-damaging,,	,705/1828,,	210559008	1,13005	2203	4300	6503	SO:0001583	missense				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018	4133	4133		A-kinase anchor proteins	6839	protein-coding gene	gene with protein product		157130			NA	3103857, 7479905	Standard	NM_001039538	XM_005246554	NA	Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2114C>T	2.37:g.210559008C>T	ENSP00000353508:p.Pro705Leu	NA	Q17S04|Q99975|Q99976	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342024	0.81911	0.0	1.16E-4	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.55832	0.1945	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.52682	-0.8543	10	0.87932	D	0	-13.3508	20.6244	0.99512	0.0:1.0:0.0:0.0	.	701;705	P11137-3;P11137	.;MAP2_HUMAN	L	705;701	ENSP00000353508:P705L;ENSP00000392164:P701L	ENSP00000353508:P705L	P	+	2	0	MAP2	210267253	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.238000	0.78173	2.879000	0.98667	0.650000	0.86243	CCG	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256521.2		+	ENST00000360351.4	Missense_Mutation	SNP	2 : 210559008 - 210559008 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	1240	140
MATN4	8785	broad.mit.edu	37	20	43926857	43926857	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:43926857C>T	ENST00000372754.1	-	7	1510	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	MATN4_ENST00000372751.4_Missense_Mutation_p.R311H|MATN4_ENST00000372756.1_Missense_Mutation_p.R460H|MATN4_ENST00000342716.4_Missense_Mutation_p.R460H|MATN4_ENST00000353917.5_Missense_Mutation_p.R378H|MATN4_ENST00000360607.6_Missense_Mutation_p.R419H|MATN4_ENST00000537548.1_Missense_Mutation_p.R460H			O95460	MATN4_HUMAN	matrilin 4	501	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ATCCTGGGAGCGGCCATCCGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	53	56			NA	NA	20		NA											NA				43926857		2203	4300	6503	SO:0001583	missense			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159	8785	8785			6910	protein-coding gene	gene with protein product		603897			NA	9827539, 9027493	Standard		NM_003833	NA	Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1502G>A	20.37:g.43926857C>T	ENSP00000361840:p.Arg501His	NA	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	37		.	.	.	.	.	.	.	.	.	.	C	33	5.239741	0.95240	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.46	5.46	0.80206	.	0.000000	0.44902	D	0.000411	D	0.92456	0.7605	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.97;0.999	D	0.93464	0.6813	10	0.87932	D	0	.	18.3439	0.90314	0.0:1.0:0.0:0.0	.	378;419;460	A6NNA4;O95460-4;O95460-2	.;.;.	H	311;501;460;378;419;460;460;501;311	ENSP00000361839:R311H;ENSP00000361840:R501H;ENSP00000361842:R460H;ENSP00000243983:R378H;ENSP00000353819:R419H;ENSP00000343164:R460H;ENSP00000440328:R460H;ENSP00000361837:R311H	ENSP00000255132:R501H	R	-	2	0	MATN4	43360271	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.759000	0.85235	2.559000	0.86315	0.644000	0.83932	CGC	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080335.1		-	ENST00000372754.1	Missense_Mutation	SNP	20 : 43926857 - 43926857 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	487	39
MED1	5469	broad.mit.edu	37	17	37565585	37565585	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:37565585T>G	ENST00000394287.3	-	17	1846				MED1_ENST00000300651.6_Missense_Mutation_p.L963F			Q15648	MED1_HUMAN	mediator complex subunit 1	NA					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTCTTTCCCTAAGTCCCCAG	0.483		NA								HNSCC(31;0.082)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(21;279 768 2492 4877 24026)							NA				0													78	77	77			NA	NA	17		NA											NA				37565585		2203	4300	6503	SO:0001627	intron_variant			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686	5469	5469			9234	protein-coding gene	gene with protein product		604311	PPAR binding protein	TRIP2, PPARGBP, PPARBP	NA	9325263, 10485914	Standard	NM_004774	NM_004774	NA	Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1640+1248A>C	17.37:g.37565585T>G		NA	A2RRQ6|O43810|O75447|Q6P9H7|Q6PK58|Q9HD39	37		.	.	.	.	.	.	.	.	.	.	T	12.45	1.941018	0.34283	.	.	ENSG00000125686	ENST00000300651	T	0.33865	1.39	5.65	3.4	0.38934	.	.	.	.	.	T	0.16685	0.0401	N	0.12182	0.205	0.53688	D	0.999973	B	0.06786	0.001	B	0.06405	0.002	T	0.05971	-1.0853	9	0.09590	T	0.72	-0.6855	7.2644	0.26222	0.0:0.2903:0.0:0.7097	.	963	Q15648	MED1_HUMAN	F	963	ENSP00000300651:L963F	ENSP00000300651:L963F	L	-	3	2	MED1	34819111	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.767000	0.26575	1.165000	0.42670	0.533000	0.62120	TTA	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000256944.1		-	ENST00000394287.3	Intron	SNP	17 : 37565585 - 37565585 G PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	215	11
MIA3	375056	broad.mit.edu	37	1	222835427	222835427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:222835427C>T	ENST00000344922.5	+	25	5168	c.5143C>T	c.(5143-5145)Cga>Tga	p.R1715*	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Nonsense_Mutation_p.R1715*|MIA3_ENST00000340535.7_Nonsense_Mutation_p.R593*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1715	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACCTCATCCTCGATGGTCAGC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	73	73			NA	NA	1		NA											NA				222835427		1887	4103	5990	SO:0001587	stop_gained				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305	375056	375056			24008	protein-coding gene	gene with protein product	C219 reactive peptide, transport and golgi organization	613455			NA	15183315	Standard	NM_198551	XM_005273121	NA	Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5143C>T	1.37:g.222835427C>T	ENSP00000340900:p.Arg1715*	NA	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	42	9.607272	0.99217	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	.	.	.	5.14	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.457	0.61204	0.5192:0.4808:0.0:0.0	.	.	.	.	X	1715;1715;1656;593;593	.	ENSP00000284471:R593X	R	+	1	2	MIA3	220902050	0.006000	0.16342	0.004000	0.12327	0.130000	0.20726	0.825000	0.27393	0.624000	0.30286	-0.181000	0.13052	CGA	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091489.4		+	ENST00000344922.5	Nonsense_Mutation	SNP	1 : 222835427 - 222835427 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	435	49
MTTP	4547	broad.mit.edu	37	4	100512445	100512445	+	Silent	SNP	G	G	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:100512445G>C	ENST00000511045.1	+	5	649	c.636G>C	c.(634-636)gtG>gtC	p.V212V	MTTP_ENST00000457717.1_Silent_p.V185V|MTTP_ENST00000265517.5_Silent_p.V185V			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	185	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AAGACAAAGTGATCAAAATTA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	103	103			NA	NA	4		NA											NA				100512445		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823	4547	4547			7467	protein-coding gene	gene with protein product		157147	microsomal triglyceride transfer protein (large polypeptide, 88kD), microsomal triglyceride transfer protein (large polypeptide, 88kDa)	MTP	NA	8111381	Standard		XM_005263025	NA	Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000511045.1:c.636G>C	4.37:g.100512445G>C		NA	A8K428|Q08AM4	37																																																																																				MTTP-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000365448.1		+	ENST00000511045.1	Silent	SNP	4 : 100512445 - 100512445 C PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	483	51
MUC1	4582	broad.mit.edu	37	1	155160807	155160807	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:155160807G>A	ENST00000368395.1	-	3	791	c.720C>T	c.(718-720)agC>agT	p.S240S	MUC1_ENST00000342482.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1020	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGGTACCGTGCTATGGTGAG	0.507		NA	T	IGH@	B-NHL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q21	4582	mucin 1, transmembrane		L	0													38	43	42			NA	NA	1		NA											NA				155160807		2197	4296	6493	SO:0001819	synonymous_variant			J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499	4582	4582		CD molecules, Mucins	7508	protein-coding gene	gene with protein product		158340	mucin 1, transmembrane, medullary cystic kidney disease 1 (autosomal dominant)	PUM, MCKD1	NA	1697589, 23396133	Standard	NM_002456	NM_002456	NA	Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.720C>T	1.37:g.155160807G>A		NA	P13931|P15942|P17626|Q14128|Q14876|Q16437|Q16442|Q16615|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	37	CCDS55640.1																																																																																			MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086735.1		-	ENST00000368395.1	Silent	SNP	1 : 155160807 - 155160807 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	314	36
MYO3A	53904	broad.mit.edu	37	10	26243817	26243817	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26243817G>T	ENST00000265944.5	+	4	349	c.183G>T	c.(181-183)gaG>gaT	p.E61D	MYO3A_ENST00000543632.1_Missense_Mutation_p.E61D|MYO3A_ENST00000376301.1_Missense_Mutation_p.E61D|MYO3A_ENST00000376302.1_Missense_Mutation_p.E61D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	61	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGACGAAGAGATTGAAGCAG	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	112	111			NA	NA	10		NA											NA				26243817		2203	4300	6503	SO:0001583	missense			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777	53904	53904		Myosins / Myosin superfamily : Class III	7601	protein-coding gene	gene with protein product		606808	deafness, autosomal recessive 30	DFNB30	NA	10936054	Standard	NM_017433	NM_017433	NA	Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.183G>T	10.37:g.26243817G>T	ENSP00000265944:p.Glu61Asp	NA	Q5VZ28|Q8WX17|Q9NYS8	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918823	0.73098	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	6.0	3.15	0.36227	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	N	0.20401	0.57	0.58432	D	0.999992	D;D;D;D	0.89917	0.957;0.965;1.0;0.978	P;D;D;D	0.97110	0.904;0.942;1.0;0.979	T	0.71122	-0.4684	10	0.72032	D	0.01	.	10.9035	0.47067	0.2392:0.0:0.7608:0.0	.	61;61;61;61	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	D	61	ENSP00000265944:E61D;ENSP00000365479:E61D;ENSP00000445909:E61D;ENSP00000365478:E61D	ENSP00000265944:E61D	E	+	3	2	MYO3A	26283823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.128000	0.42045	1.558000	0.49541	0.643000	0.83706	GAG	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047259.1		+	ENST00000265944.5	Missense_Mutation	SNP	10 : 26243817 - 26243817 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	581	53
NLRP3	114548	broad.mit.edu	37	1	247592989	247592989	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:247592989G>A	ENST00000336119.3	+	4	3005	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	NLRP3_ENST00000366496.2_Silent_p.L753L|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000366497.2_Silent_p.L753L|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Silent_p.L753L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	753					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAATTCTCTGGGGGACCCAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	94	96			NA	NA	1		NA											NA				247592989		2203	4300	6503	SO:0001819	synonymous_variant			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	114548	114548		Nucleotide-binding domain and leucine rich repeat containing	16400	protein-coding gene	gene with protein product	Cryopyrin, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3	606416	cold autoinflammatory syndrome 1	C1orf7, CIAS1	NA	10741953	Standard	NM_004895	NM_183395	NA	Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2259G>A	1.37:g.247592989G>A		NA	B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	37	CCDS1632.1																																																																																			NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097740.1		+	ENST00000336119.3	Silent	SNP	1 : 247592989 - 247592989 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	450	25
OBSL1	23363	broad.mit.edu	37	2	220420834	220420834	+	Missense_Mutation	SNP	C	C	T	rs138086602	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:220420834C>T	ENST00000404537.1	-	14	4573	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	OBSL1_ENST00000265318.4_Missense_Mutation_p.A1373T|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1414H|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1506H|OBSL1_ENST00000265317.5_Missense_Mutation_p.R405H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1506	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.R1506H(1)			NA		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATGAAGAGGCGGTGGATGTG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	central_nervous_system(1)											31	37	35			NA	NA	2		NA											NA				220420834		2101	4216	6317	SO:0001583	missense			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006	23363	23363		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	29092	protein-coding gene	gene with protein product		610991			NA	9734811	Standard		NM_015311	NA	Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4517G>A	2.37:g.220420834C>T	ENSP00000385636:p.Arg1506His	NA	A4KVA5|Q96IW3	37	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.478052|4.478052	0.84747|0.84747	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000265318;ENST00000456147|ENST00000404537;ENST00000373876;ENST00000265317	T|T;T;T	0.57273|0.67865	0.41|-0.29;-0.29;-0.29	4.49|4.49	4.49|4.49	0.54785|0.54785	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.73458|0.73458	0.3589|0.3589	L|L	0.39147|0.39147	1.195|1.195	0.22940|0.22940	N|N	0.998532|0.998532	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|D;D;D;D	.|0.74674	.|0.964;0.977;0.982;0.984	T|T	0.62642|0.62642	-0.6811|-0.6811	7|9	0.06099|0.45353	T|T	0.92|0.12	.|.	11.9214|11.9214	0.52793|0.52793	0.0:0.6679:0.3321:0.0|0.0:0.6679:0.3321:0.0	.|.	.|313;1507;1506;405	.|B7Z5P5;A4KVA4;O75147;E7ER99	.|.;.;OBSL1_HUMAN;.	T|H	1373;408|1506;1414;405	ENSP00000265318:A1373T|ENSP00000385636:R1506H;ENSP00000362983:R1414H;ENSP00000265317:R405H	ENSP00000265318:A1373T|ENSP00000265317:R405H	A|R	-|-	1|2	0|0	OBSL1|OBSL1	220129078|220129078	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	2.024000|2.024000	0.41049|0.41049	2.327000|2.327000	0.79052|0.79052	0.491000|0.491000	0.48974|0.48974	GCC|CGC	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322012.1		-	ENST00000404537.1	Missense_Mutation	SNP	2 : 220420834 - 220420834 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	226	25
OR10K1	391109	broad.mit.edu	37	1	158435756	158435756	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:158435756C>T	ENST00000289451.2	+	1	485	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTCAGTGCTCATGGGACATG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	201	206			NA	NA	1		NA											NA				158435756		2203	4300	6503	SO:0001819	synonymous_variant			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285	391109	391109		GPCR / Class A : Olfactory receptors	14693	protein-coding gene	gene with protein product					NA		Standard		NM_001004473	NA	Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.405C>T	1.37:g.158435756C>T		NA	Q6IFS2	37	CCDS30897.1																																																																																			OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046367.1		+	ENST00000289451.2	Silent	SNP	1 : 158435756 - 158435756 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	789	96
PABPC3	5042	broad.mit.edu	37	13	25671664	25671664	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:25671664A>C	ENST00000281589.3	+	1	1365	c.1328A>C	c.(1327-1329)aAt>aCt	p.N443T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	443					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCATTCCAAAATAAGCCCAGT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	138	139			NA	NA	13		NA											NA				25671664		2203	4300	6503	SO:0001583	missense			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846	5042	5042		RNA binding motif (RRM) containing	8556	protein-coding gene	gene with protein product	testis PABP	604680	poly(A)-binding protein, cytoplasmic 3	PABPL3	NA	8432538, 10543404	Standard	NM_030979	NM_030979	NA	Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1328A>C	13.37:g.25671664A>C	ENSP00000281589:p.Asn443Thr	NA	Q8NHV0|Q9H086	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030769	0.07543	.	.	ENSG00000151846	ENST00000281589	T	0.27557	1.66	0.875	0.875	0.19130	.	0.000000	0.50627	U	0.000110	T	0.21841	0.0526	L	0.52011	1.625	0.44899	D	0.997918	B	0.02656	0.0	B	0.10450	0.005	T	0.05500	-1.0881	10	0.22706	T	0.39	.	5.8995	0.18957	1.0:0.0:0.0:0.0	.	443	Q9H361	PABP3_HUMAN	T	443	ENSP00000281589:N443T	ENSP00000281589:N443T	N	+	2	0	PABPC3	24569664	1.000000	0.71417	0.963000	0.40424	0.160000	0.22226	3.947000	0.56652	0.632000	0.30432	0.260000	0.18958	AAT	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044220.2		+	ENST00000281589.3	Missense_Mutation	SNP	13 : 25671664 - 25671664 C PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	907	56
PCDHB3	56132	broad.mit.edu	37	5	140482066	140482066	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:140482066G>A	ENST00000231130.2	+	1	1833	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	611	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E611D(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCACGGAGCCCGGGCTGT	0.706		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)											20	22	21			NA	NA	5		NA											NA				140482066		1965	3899	5864	SO:0001819	synonymous_variant			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205	56132	56132		Cadherins / Protocadherins : Clustered	8688	other	protocadherin		606329			NA	10380929	Standard	NM_018937	NM_018937	NA	Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1833G>A	5.37:g.140482066G>A		NA	B2R8P2	37	CCDS4245.1																																																																																			PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251817.2		+	ENST00000231130.2	Silent	SNP	5 : 140482066 - 140482066 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	619	29
PRDM13	59336	broad.mit.edu	37	6	100061823	100061823	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:100061823C>T	ENST00000369215.4	+	4	1617	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGCGCTGCCGCCCCTCGACCC	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	16	15			NA	NA	6		NA											NA				100061823		1673	3640	5313	SO:0001583	missense			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238	59336	59336			13998	protein-coding gene	gene with protein product					NA		Standard		NM_021620	NA	Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1312C>T	6.37:g.100061823C>T	ENSP00000358217:p.Pro438Ser	NA	Q5TGC1|Q5TGC2	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237088	0.22711	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05717	3.4;3.4	3.59	0.61	0.17580	.	0.394677	0.18533	N	0.138435	T	0.01730	0.0055	L	0.29908	0.895	0.32681	N	0.515456	B	0.20052	0.041	B	0.21917	0.037	T	0.44298	-0.9337	10	0.22109	T	0.4	-3.4988	13.5999	0.62013	0.0:0.6342:0.3658:0.0	.	438	Q9H4Q3	PRD13_HUMAN	S	438;448	ENSP00000358217:P438S;ENSP00000358216:P448S	ENSP00000358216:P448S	P	+	1	0	PRDM13	100168544	0.056000	0.20664	0.437000	0.26809	0.095000	0.18619	1.172000	0.31908	-0.104000	0.12154	0.561000	0.74099	CCC	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041619.2		+	ENST00000369215.4	Missense_Mutation	SNP	6 : 100061823 - 100061823 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	188	16
RBM28	55131	broad.mit.edu	37	7	127963635	127963642	+	Frame_Shift_Del	DEL	GCACGAAT	GCACGAAT	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GCACGAAT	GCACGAAT	-	-	GCACGAAT	GCACGAAT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:127963635_127963642delGCACGAAT	ENST00000223073.2	-	13	1456_1463	c.1342_1349delATTCGTGC	c.(1342-1350)attcgtgctfs	p.IRA448fs	RBM28_ENST00000415472.2_Frame_Shift_Del_p.IRA307fs	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	NA					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCGTCCCAGCACGAATCACTGCAGAA	0.471		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344	55131	55131		RNA binding motif (RRM) containing	21863	protein-coding gene	gene with protein product		612074			NA		Standard	NM_018077	NM_018077	NA	Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1342_1349delATTCGTGC	7.37:g.127963635_127963642delGCACGAAT	ENSP00000223073:p.Ile448fs	NA	A4D100|Q53H65|Q96CV3	37	CCDS5801.1																																																																																			RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349442.2		-	ENST00000223073.2	Frame_Shift_Del	DEL	7 : 127963635 - 127963642 - PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	571	26
SHROOM2	357	broad.mit.edu	37	X	9907312	9907312	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrX:9907312C>T	ENST00000380913.3	+	8	4307	c.4217C>T	c.(4216-4218)gCg>gTg	p.A1406V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.A241V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1406	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCCCCCAAGGCGGAGCTGCTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	43	48			NA	NA	X		NA											NA				9907312		2203	4300	6503	SO:0001583	missense			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950	357	357			630	protein-coding gene	gene with protein product		300103	apical protein, Xenopus laevis-like, apical protein-like (Xenopus laevis)	APXL	NA	7795590, 16615870	Standard	NM_001649	NM_001649	NA	Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4217C>T	X.37:g.9907312C>T	ENSP00000370299:p.Ala1406Val	NA	B9EIQ7	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166693	0.78339	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.37235	1.21;1.21;1.21	5.44	5.44	0.79542	Apx/shroom, ASD2 (2);	0.058670	0.64402	N	0.000002	T	0.39733	0.1089	L	0.52206	1.635	0.58432	D	0.999999	B;B	0.33755	0.424;0.194	B;B	0.35727	0.209;0.041	T	0.35500	-0.9786	10	0.72032	D	0.01	-12.7128	18.4668	0.90758	0.0:1.0:0.0:0.0	.	241;1406	Q68DU3;Q13796	.;SHRM2_HUMAN	V	1406;241;241;241	ENSP00000370299:A1406V;ENSP00000415229:A241V;ENSP00000406724:A241V	ENSP00000370299:A1406V	A	+	2	0	SHROOM2	9867312	1.000000	0.71417	0.928000	0.36995	0.789000	0.44602	7.339000	0.79282	2.301000	0.77427	0.596000	0.82720	GCG	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055721.1		+	ENST00000380913.3	Missense_Mutation	SNP	X : 9907312 - 9907312 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	65	11
SLCO4C1	353189	broad.mit.edu	37	5	101576431	101576431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101576431G>A	ENST00000310954.6	-	11	2153	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	623					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTAATAATCGAAGGACCATA	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	stop/ARG	0,4406		0,0,2203	131	139	136		1867	6	1	5		136	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	SLCO4C1	NM_180991.4		0,1,6501	AA,AG,GG	NA	0.0116,0.0,0.0077		623/725	101576431	1,13003	2203	4299	6502	SO:0001587	stop_gained			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930	353189	353189		Solute carriers	23612	protein-coding gene	gene with protein product		609013			NA		Standard	NM_180991	NM_180991	NA	Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1867C>T	5.37:g.101576431G>A	ENSP00000309741:p.Arg623*	NA	Q86UG5	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	40	8.187990	0.98696	0.0	1.16E-4	ENSG00000173930	ENST00000310954	.	.	.	5.96	5.96	0.96718	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9858	0.92769	0.0:0.0:1.0:0.0	.	.	.	.	X	623	.	ENSP00000309741:R623X	R	-	1	2	SLCO4C1	101604330	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	4.086000	0.57664	2.832000	0.97577	0.655000	0.94253	CGA	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370332.1		-	ENST00000310954.6	Nonsense_Mutation	SNP	5 : 101576431 - 101576431 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	706	96
SLCO6A1	133482	broad.mit.edu	37	5	101834438	101834438	+	Silent	SNP	T	T	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101834438T>G	ENST00000506729.1	-	1	282	c.111A>C	c.(109-111)ggA>ggC	p.G37G	SLCO6A1_ENST00000379807.3_Silent_p.G37G|SLCO6A1_ENST00000389019.3_Silent_p.G37G|SLCO6A1_ENST00000513675.1_Silent_p.G37G|SLCO6A1_ENST00000379810.1_Silent_p.G37G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	37						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	126	121			NA	NA	5		NA											NA				101834438		2203	4300	6503	SO:0001819	synonymous_variant			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359	133482	133482		Solute carriers	23613	protein-coding gene	gene with protein product	cancer/testis antigen 48	613365			NA		Standard	NM_173488	XM_005271874	NA	Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.111A>C	5.37:g.101834438T>G		NA	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	37	CCDS34206.1																																																																																			SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370335.1		-	ENST00000506729.1	Silent	SNP	5 : 101834438 - 101834438 G PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	1300	147
TRMT1	55621	broad.mit.edu	37	19	13227177	13227177	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:13227177G>A	ENST00000592062.1	-	3	607	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	TRMT1_ENST00000221504.8_Missense_Mutation_p.R13C|TRMT1_ENST00000357720.4_Missense_Mutation_p.R13C|TRMT1_ENST00000437766.1_Missense_Mutation_p.R13C|TRMT1_ENST00000592892.1_5'UTR			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	13							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGGCGGAGCGGAAAGTGAGG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	46	44			NA	NA	19		NA											NA				13227177		2202	4300	6502	SO:0001583	missense			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12				55621	55621			25980	protein-coding gene	gene with protein product		611669			NA	10982862	Standard	NM_017722	NM_001142554	NA	Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.37C>T	19.37:g.13227177G>A	ENSP00000466967:p.Arg13Cys	NA	O76103|Q548Y5|Q8WVA6	37	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396554	0.42512	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	5.28	3.15	0.36227	.	0.180442	0.31772	N	0.007085	T	0.34366	0.0895	L	0.27053	0.805	0.19300	N	0.999976	D;D	0.71674	0.998;0.997	P;P	0.53861	0.736;0.548	T	0.10064	-1.0646	9	0.72032	D	0.01	-15.9499	8.3666	0.32391	0.1833:0.0:0.8167:0.0	.	13;13	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	C	13	.	ENSP00000221504:R13C	R	-	1	0	TRMT1	13088177	0.973000	0.33851	0.106000	0.21319	0.003000	0.03518	2.511000	0.45476	0.728000	0.32382	-0.140000	0.14226	CGC	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452780.2		-	ENST00000592062.1	Missense_Mutation	SNP	19 : 13227177 - 13227177 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	411	22
TSC2	7249	broad.mit.edu	37	16	2137908	2137908	+	Silent	SNP	C	C	T	rs45467993		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:2137908C>T	ENST00000219476.3	+	39	5664	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	TSC2_ENST00000382538.6_Silent_p.Y1563Y|TSC2_ENST00000350773.4_Silent_p.Y1655Y|TSC2_ENST00000568454.1_Silent_p.Y1622Y|TSC2_ENST00000439673.2_Silent_p.Y1575Y|TSC2_ENST00000401874.2_Silent_p.Y1611Y|TSC2_ENST00000353929.4_Silent_p.Y1635Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1678	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCTGGACTACGAGTGCAACC	0.642		NA	D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0			GRCh37	CM054870	TSC2	M	rs45467993	C	,,	1,4393	2.1+/-5.4	0,1,2196	65	50	55	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5034,4833,4965	-7.7	0.8	16	dbSNP_127	55	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	,,	0,1,6495	TT,TC,CC	NA	0.0,0.0228,0.0077	,,	1678/1808,1611/1741,1655/1785	2137908	1,12991	2197	4299	6496	SO:0001819	synonymous_variant	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197	7249	7249			12363	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 160	191092		TSC4	NA	1303246, 7558029	Standard	NM_000548	NM_001077183	NA	Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.5034C>T	16.37:g.2137908C>T		NA	A7E2E2|B4DIQ7|B4DRN2|C9J378|O75275|Q4LE71|Q8TAZ1	37	CCDS10458.1																																																																																			TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250657.2		+	ENST00000219476.3	Silent	SNP	16 : 2137908 - 2137908 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	279	13
UBQLN3	50613	broad.mit.edu	37	11	5529285	5529285	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:5529285G>T	ENST00000311659.4	-	2	1651	c.1504C>A	c.(1504-1506)Caa>Aaa	p.Q502K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	502										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGTGGTTGTATCTCATCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(72;684 1260 12332 41642 52180)							NA				0													55	57	56			NA	NA	11		NA											NA				5529285		2201	4297	6498	SO:0001583	missense			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520	50613	50613		Ubiquilin family	12510	protein-coding gene	gene with protein product		605473			NA	10831842	Standard	NM_017481	NM_017481	NA	Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1504C>A	11.37:g.5529285G>T	ENSP00000347997:p.Gln502Lys	NA	Q9NRE0	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939872	0.18281	.	.	ENSG00000175520	ENST00000311659	T	0.35048	1.33	4.53	4.53	0.55603	.	0.461817	0.18254	N	0.146844	T	0.33089	0.0851	L	0.43152	1.355	0.21762	N	0.999559	B	0.15930	0.015	B	0.09377	0.004	T	0.20974	-1.0259	10	0.51188	T	0.08	.	15.1489	0.72681	0.0:0.0:1.0:0.0	.	502	Q9H347	UBQL3_HUMAN	K	502	ENSP00000347997:Q502K	ENSP00000347997:Q502K	Q	-	1	0	UBQLN3	5485861	0.387000	0.25188	0.402000	0.26371	0.171000	0.22731	2.771000	0.47670	2.499000	0.84300	0.655000	0.94253	CAA	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143348.1		-	ENST00000311659.4	Missense_Mutation	SNP	11 : 5529285 - 5529285 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	453	24
UGP2	7360	broad.mit.edu	37	2	64117306	64117306	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:64117306A>G	ENST00000445915.2	+	9	1500	c.1433A>G	c.(1432-1434)aAt>aGt	p.N478S	UGP2_ENST00000394417.2_Missense_Mutation_p.N458S|UGP2_ENST00000337130.5_Missense_Mutation_p.N469S|UGP2_ENST00000467648.2_Missense_Mutation_p.N458S			Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	469	Oligomerization (By similarity).				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGAAAAAATGTTTCATTA	0.289		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	85	83			NA	NA	2		NA											NA				64117306		2202	4298	6500	SO:0001583	missense				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	7360	7360	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	UDP-glucose pyrophosphorylase 1	UGP1	NA		Standard	NM_006759	NM_006759	NA	Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000445915.2:c.1433A>G	2.37:g.64117306A>G	ENSP00000411803:p.Asn478Ser	NA	Q07131|Q0P6K2|Q86Y81|Q9BU15	37		.	.	.	.	.	.	.	.	.	.	A	17.57	3.421711	0.62622	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.82	5.82	0.92795	.	0.129339	0.64402	D	0.000001	T	0.22205	0.0535	L	0.45051	1.395	0.80722	D	1	P;P	0.42337	0.776;0.494	B;B	0.39935	0.314;0.314	T	0.01152	-1.1435	10	0.45353	T	0.12	-6.9138	16.1814	0.81903	1.0:0.0:0.0:0.0	.	478;469	E7EUC7;Q16851	.;UGPA_HUMAN	S	458;458;469;478	ENSP00000377939:N458S;ENSP00000420793:N458S;ENSP00000338703:N469S;ENSP00000411803:N478S	ENSP00000338703:N469S	N	+	2	0	UGP2	63970810	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	AAT	UGP2-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353860.2		+	ENST00000445915.2	Missense_Mutation	SNP	2 : 64117306 - 64117306 G PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	330	34
VCAN	1462	broad.mit.edu	37	5	82835841	82835841	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:82835841G>A	ENST00000265077.3	+	8	7584	c.7019G>A	c.(7018-7020)gGa>gAa	p.G2340E	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.G1353E|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2340	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGTGACACTGGAGCAGAAGGA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	89	90			NA	NA	5		NA											NA				82835841		2203	4300	6503	SO:0001583	missense			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427	1462	1462		Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans	2464	protein-coding gene	gene with protein product	versican proteoglycan	118661	chondroitin sulfate proteoglycan 2	CSPG2	NA	1478664, 21063030	Standard	NM_004385	NM_004385	NA	Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7019G>A	5.37:g.82835841G>A	ENSP00000265077:p.Gly2340Glu	NA	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	4.418	0.077349	0.08485	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.13089	2.62;2.62	6.07	2.27	0.28462	.	0.514767	0.19096	N	0.122838	T	0.12050	0.0293	L	0.38175	1.15	0.09310	N	1	P;B	0.40515	0.719;0.1	B;B	0.44085	0.44;0.036	T	0.16748	-1.0392	10	0.24483	T	0.36	.	7.4303	0.27124	0.1416:0.2539:0.6045:0.0	.	1353;2340	P13611-2;P13611	.;CSPG2_HUMAN	E	2340;1353	ENSP00000265077:G2340E;ENSP00000340062:G1353E	ENSP00000265077:G2340E	G	+	2	0	VCAN	82871597	0.033000	0.19621	0.000000	0.03702	0.040000	0.13550	0.946000	0.29069	0.445000	0.26639	0.650000	0.86243	GGA	VCAN-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254092.3		+	ENST00000265077.3	Missense_Mutation	SNP	5 : 82835841 - 82835841 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	478	52
ZNF486	90649	broad.mit.edu	37	19	20308524	20308524	+	Silent	SNP	G	G	A	rs61745360	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:20308524G>A	ENST00000335117.8	+	4	1062	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TTTCATCCTCGATCCTTAGTA	0.408		NA											-	6	0.0027	0.01	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	0.0029	0.9698	LOWCOV	NA	NA	9e-04	SNP								NA				0								G		53,4303		0,53,2125	52	56	55		1005	-1.7	0.2	19	dbSNP_129	55	0,8574		0,0,4287	no	coding-synonymous	ZNF486	NM_052852.2		0,53,6412	AA,AG,GG	NA	0.0,1.2167,0.4099		335/464	20308524	53,12877	2178	4287	6465	SO:0001819	synonymous_variant			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229	90649	90649		Zinc fingers, C2H2-type, -	20807	protein-coding gene	gene with protein product			KRAB domain only 2	KRBO2	NA		Standard	NM_052852	NM_052852	NA	Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1005G>A	19.37:g.20308524G>A		NA	Q0VG00	37	CCDS46029.1																																																																																			ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447843.2		+	ENST00000335117.8	Silent	SNP	19 : 20308524 - 20308524 A PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	267	32
ZNF75A	7627	broad.mit.edu	37	16	3367798	3367798	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:3367798A>G	ENST00000574298.1	+	6	1293	c.820A>G	c.(820-822)Act>Gct	p.T274A	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCATATACTTGTAGCAT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	68	67			NA	NA	16		NA											NA				3367798		2197	4300	6497	SO:0001583	missense			X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086	7627	7627		Zinc fingers, C2H2-type, -	13146	protein-coding gene	gene with protein product		601473			NA	8661144	Standard	NM_153028	NM_153028	NA	Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.820A>G	16.37:g.3367798A>G	ENSP00000459566:p.Thr274Ala	NA	Q0VDI8|Q92669	37	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	A	3.920	-0.018269	0.07681	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.46	-2.76	0.05896	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.109970	0.06937	N	0.812053	T	0.16385	0.0394	N	0.04297	-0.235	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.25847	-1.0120	9	0.51188	T	0.08	.	6.3677	0.21463	0.2835:0.0:0.0837:0.6328	.	274	Q96N20	ZN75A_HUMAN	A	274	.	ENSP00000293995:T274A	T	+	1	0	ZNF75A	3307799	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-2.209000	0.01228	-0.674000	0.05253	0.455000	0.32223	ACT	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251506.2		+	ENST00000574298.1	Missense_Mutation	SNP	16 : 3367798 - 3367798 G PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	620	32
ZSCAN1	284312	broad.mit.edu	37	19	58549468	58549468	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:58549468C>T	ENST00000282326.1	+	3	511	c.264C>T	c.(262-264)ggC>ggT	p.G88G	ZSCAN1_ENST00000601162.1_Silent_p.G88G|ZSCAN1_ENST00000391700.1_Silent_p.G88G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	88	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGTTCCTGGGCGCGCTGCCCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	18	18			NA	NA	19		NA											NA				58549468		2197	4294	6491	SO:0001819	synonymous_variant			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467	284312	284312		-, Zinc fingers, C2H2-type	23712	protein-coding gene	gene with protein product			zinc finger with SCAN domain 1		NA	12477932	Standard	NM_182572	NM_182572	NA	Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.264C>T	19.37:g.58549468C>T		NA	Q3B798|Q6WLH8|Q86WS8	37	CCDS12969.1																																																																																			ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466427.1		+	ENST00000282326.1	Silent	SNP	19 : 58549468 - 58549468 T PAAD-TCGA-HZ-7926-Tumor-SM-2NW7J	145	10
