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
ADAMTS20	80070	broad.mit.edu	37	12	43886398	43886398	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr12:43886398G>A	ENST00000389420.3	-	6	985	c.986C>T	c.(985-987)aCa>aTa	p.T329I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T329I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	329	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTCTTTAATGTGGTAGCACC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	131	142			NA	NA	12		NA											NA				43886398		2203	4300	6503	SO:0001583	missense			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157	80070	80070		ADAM metallopeptidases with thrombospondin type 1 motif	17178	protein-coding gene	gene with protein product		611681	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20		NA	12514189, 12562771	Standard	NM_025003	NM_025003	NA	Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.986C>T	12.37:g.43886398G>A	ENSP00000374071:p.Thr329Ile	NA	A6NNC9	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000515	0.54147	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.65916	-0.18;-0.18	4.79	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.50627	D	0.000108	D	0.83880	0.5350	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87771	0.2605	10	0.87932	D	0	.	18.7307	0.91734	0.0:0.0:1.0:0.0	.	329	P59510	ATS20_HUMAN	I	329	ENSP00000374071:T329I;ENSP00000448341:T329I	ENSP00000374068:T329I	T	-	2	0	ADAMTS20	42172665	1.000000	0.71417	0.633000	0.29310	0.037000	0.13140	9.136000	0.94489	2.587000	0.87381	0.557000	0.71058	ACA	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403643.1		-	ENST00000389420.3	Missense_Mutation	SNP	12 : 43886398 - 43886398 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	132	12
ANK2	287	broad.mit.edu	37	4	114277476	114277476	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:114277476T>G	ENST00000357077.4	+	38	7755	c.7702T>G	c.(7702-7704)Tgt>Ggt	p.C2568G	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.C2535G|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2535					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATTCATGAATGTGCAGAGGA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	108	107			NA	NA	4		NA											NA				114277476		2203	4300	6503	SO:0001583	missense			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	287	287		Ankyrin repeat domain containing	493	protein-coding gene	gene with protein product		106410	long (electrocardiographic) QT syndrome 4	LQT4	NA	7485162, 12571597	Standard	NM_001148	NM_001148	NA	Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7702T>G	4.37:g.114277476T>G	ENSP00000349588:p.Cys2568Gly	NA	Q01485|Q08AC7|Q08AC8|Q7Z3L5	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379860	0.61845	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66815	-0.22;-0.23	5.81	5.81	0.92471	.	0.222920	0.31542	N	0.007467	T	0.69061	0.3069	L	0.60455	1.87	0.80722	D	1	B;P	0.50272	0.001;0.933	B;P	0.49829	0.002;0.623	T	0.69774	-0.5054	9	.	.	.	.	11.6148	0.51083	0.0:0.0:0.2662:0.7338	.	2535;2568	Q01484;Q01484-4	ANK2_HUMAN;.	G	2568;2535	ENSP00000349588:C2568G;ENSP00000264366:C2535G	.	C	+	1	0	ANK2	114496925	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	4.953000	0.63624	2.216000	0.71823	0.533000	0.62120	TGT	ANK2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256422.2		+	ENST00000357077.4	Missense_Mutation	SNP	4 : 114277476 - 114277476 G PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	672	59
ANKRD50	57182	broad.mit.edu	37	4	125592599	125592599	+	Silent	SNP	A	A	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:125592599A>G	ENST00000504087.1	-	4	2870	c.1833T>C	c.(1831-1833)ggT>ggC	p.G611G	ANKRD50_ENST00000515641.1_Silent_p.G432G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	611										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATGCTGTCCAACCATCTTGAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	103	106			NA	NA	4		NA											NA				125592599		2203	4300	6503	SO:0001819	synonymous_variant			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458	57182	57182		Ankyrin repeat domain containing	29223	protein-coding gene	gene with protein product					NA		Standard	NM_020337	NM_020337	NA	Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1833T>C	4.37:g.125592599A>G		NA	A8K4V3|Q6N064|Q6ZSE6	37	CCDS34060.1																																																																																			ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364775.1		-	ENST00000504087.1	Silent	SNP	4 : 125592599 - 125592599 G PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	492	19
ASB2	51676	broad.mit.edu	37	14	94413764	94413764	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr14:94413764G>A	ENST00000555019.1	-	7	1413	c.983C>T	c.(982-984)gCc>gTc	p.A328V	ASB2_ENST00000315988.4_Missense_Mutation_p.A280V|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	280					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GTTGGCGTCGGCACCCTGTGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	164	180			NA	NA	14		NA											NA				94413764		2203	4300	6503	SO:0001583	missense			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25				51676	51676		Ankyrin repeat domain containing	16012	protein-coding gene	gene with protein product		605759	ankyrin repeat and SOCS box-containing 2		NA		Standard		NM_016150	NA	Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000555019.1:c.983C>T	14.37:g.94413764G>A	ENSP00000451575:p.Ala328Val	NA	B2RDP9|Q9NSU5|Q9Y567	37	CCDS55940.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393915	0.96009	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.61510	1.81;1.81;0.1	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.73753	2.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.79843	-0.1632	10	0.72032	D	0.01	-18.3735	18.7174	0.91680	0.0:0.0:1.0:0.0	.	296;328;280	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	V	328;296;280;226;226	ENSP00000451575:A328V;ENSP00000320675:A280V;ENSP00000450940:A226V	ENSP00000320675:A280V	A	-	2	0	ASB2	93483517	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.869000	0.99810	2.417000	0.82017	0.462000	0.41574	GCC	ASB2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412844.1		-	ENST00000555019.1	Missense_Mutation	SNP	14 : 94413764 - 94413764 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	373	5
CCDC88B	283234	broad.mit.edu	37	11	64116904	64116904	+	Silent	SNP	G	G	C			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:64116904G>C	ENST00000356786.5	+	15	2762	c.2718G>C	c.(2716-2718)ctG>ctC	p.L906L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.L58L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	906					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGAATTTCTGCGAGAAAAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	24	22			NA	NA	11		NA											NA				64116904		2200	4296	6496	SO:0001819	synonymous_variant			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071	283234	283234			26757	protein-coding gene	gene with protein product	brain leucine zipper protein, GRP78-interacting protein induced by ER stress	611205	coiled-coil domain containing 88	CCDC88	NA	15882442, 21289099	Standard	NM_032251	NM_032251	NA	Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2718G>C	11.37:g.64116904G>C		NA	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	37	CCDS8072.2																																																																																			CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104845.1		+	ENST00000356786.5	Silent	SNP	11 : 64116904 - 64116904 C PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	123	16
CD226	10666	broad.mit.edu	37	18	67614045	67614045	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr18:67614045C>T	ENST00000280200.4	-	3	575	c.307G>A	c.(307-309)Gtt>Att	p.V103I	CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V103I	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	103	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TAGTAGCCAACATCATCTTCA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(184;838 2130 8673 21498 50749)							NA				0													114	104	108			NA	NA	18		NA											NA				67614045		2203	4300	6503	SO:0001583	missense			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637	10666	10666		CD molecules, Immunoglobulin superfamily / V-set domain containing	16961	protein-coding gene	gene with protein product		605397	CD226 antigen		NA	8673704	Standard	NM_006566	NM_006566	NA	Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.307G>A	18.37:g.67614045C>T	ENSP00000280200:p.Val103Ile	NA	B2R818	37	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	4.746	0.138729	0.09083	.	.	ENSG00000150637	ENST00000280200	T	0.64803	-0.12	5.51	0.462	0.16695	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.314578	0.33916	N	0.004434	T	0.31606	0.0802	N	0.05510	-0.035	0.09310	N	1	B	0.20368	0.044	B	0.20577	0.03	T	0.13124	-1.0521	10	0.14252	T	0.57	.	4.3927	0.11348	0.0:0.4783:0.1594:0.3623	.	103	Q15762	CD226_HUMAN	I	103	ENSP00000280200:V103I	ENSP00000280200:V103I	V	-	1	0	CD226	65765025	0.000000	0.05858	0.009000	0.14445	0.442000	0.32017	-0.509000	0.06336	0.077000	0.16863	0.655000	0.94253	GTT	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256226.3		-	ENST00000280200.4	Missense_Mutation	SNP	18 : 67614045 - 67614045 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	222	13
CDH10	1008	broad.mit.edu	37	5	24505322	24505322	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr5:24505322A>G	ENST00000264463.4	-	8	1799	c.1292T>C	c.(1291-1293)aTc>aCc	p.I431T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	431	Cadherin 4.				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)		AATGTTAAAGATTCTGTCAAG	0.368		NA								HNSCC(23;0.051)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	95	96			NA	NA	5		NA											NA				24505322		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.1292T>C	5.37:g.24505322A>G	ENSP00000264463:p.Ile431Thr	NA	Q9ULB3	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056941	0.55325	.	.	ENSG00000040731	ENST00000264463	T	0.50548	0.74	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.053511	0.64402	D	0.000001	T	0.46210	0.1381	L	0.49640	1.575	0.46241	D	0.998949	B	0.21606	0.058	B	0.26202	0.067	T	0.41070	-0.9529	10	0.52906	T	0.07	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	431	Q9Y6N8	CAD10_HUMAN	T	431	ENSP00000264463:I431T	ENSP00000264463:I431T	I	-	2	0	CDH10	24541079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.096000	0.76960	2.102000	0.63906	0.533000	0.62120	ATC	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207345.2		-	ENST00000264463.4	Missense_Mutation	SNP	5 : 24505322 - 24505322 G PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	293	16
CDK6	1021	broad.mit.edu	37	7	92462588	92462588	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:92462588G>T	ENST00000265734.4	-	2	461	c.50C>A	c.(49-51)gCg>gAg	p.A17E	CDK6_ENST00000424848.2_Missense_Mutation_p.A17E	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	17	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCCGATCTCCGCCACGCATTC	0.721		NA	T	MLLT10	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													23	16	19			NA	NA	7		NA											NA				92462588		2195	4287	6482	SO:0001583	missense				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810	1021	1021		Cyclin-dependent kinases	1777	protein-coding gene	gene with protein product		603368			NA	1639063	Standard		NM_001259	NA	Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.50C>A	7.37:g.92462588G>T	ENSP00000265734:p.Ala17Glu	NA		37	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748628	0.49257	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.39056	1.1;1.1	5.5	5.5	0.81552	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	0.33527	0.0866	N	0.01219	-0.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.36237	-0.9756	10	0.02654	T	1	-2.5446	19.3835	0.94546	0.0:0.0:1.0:0.0	.	17	Q00534	CDK6_HUMAN	E	17	ENSP00000265734:A17E;ENSP00000397087:A17E	ENSP00000265734:A17E	A	-	2	0	CDK6	92300524	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.695000	0.98691	2.586000	0.87340	0.557000	0.71058	GCG	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254605.2		-	ENST00000265734.4	Missense_Mutation	SNP	7 : 92462588 - 92462588 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	61	4
CDK6	1021	broad.mit.edu	37	7	92462589	92462589	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:92462589C>T	ENST00000265734.4	-	2	460	c.49G>A	c.(49-51)Gcg>Acg	p.A17T	CDK6_ENST00000424848.2_Missense_Mutation_p.A17T	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	17	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCGATCTCCGCCACGCATTCG	0.721		NA	T	MLLT10	ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													23	16	19			NA	NA	7		NA											NA				92462589		2195	4287	6482	SO:0001583	missense				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810	1021	1021		Cyclin-dependent kinases	1777	protein-coding gene	gene with protein product		603368			NA	1639063	Standard		NM_001259	NA	Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.49G>A	7.37:g.92462589C>T	ENSP00000265734:p.Ala17Thr	NA		37	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133124	0.94517	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.43294	0.95;0.95	5.5	5.5	0.81552	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	0.45994	0.1370	N	0.21373	0.66	0.80722	D	1	D	0.60575	0.988	P	0.53490	0.727	T	0.49476	-0.8936	10	0.87932	D	0	-2.5446	19.3835	0.94546	0.0:1.0:0.0:0.0	.	17	Q00534	CDK6_HUMAN	T	17	ENSP00000265734:A17T;ENSP00000397087:A17T	ENSP00000265734:A17T	A	-	1	0	CDK6	92300525	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.686000	0.84128	2.586000	0.87340	0.557000	0.71058	GCG	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254605.2		-	ENST00000265734.4	Missense_Mutation	SNP	7 : 92462589 - 92462589 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	60	4
CDKN2AIP	55602	broad.mit.edu	37	4	184368445	184368445	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:184368445C>T	ENST00000504169.1	+	3	1815	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	536	DRBM.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGTTATTTCTCAAGAAAAAGG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	84	81			NA	NA	4		NA											NA				184368445		2203	4300	6503	SO:0001819	synonymous_variant			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564	55602	55602			24325	protein-coding gene	gene with protein product	collaborates/cooperates with ARF (alternate reading frame) protein	615914			NA	12154087, 16803988	Standard	NM_017632	NM_017632	NA	Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1608C>T	4.37:g.184368445C>T		NA	Q8TBM5|Q9NYH0	37	CCDS34110.1																																																																																			CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361488.1		+	ENST00000504169.1	Silent	SNP	4 : 184368445 - 184368445 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	493	34
CRKL	1399	broad.mit.edu	37	22	21272254	21272254	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr22:21272254G>A	ENST00000354336.3	+	1	541	c.32G>A	c.(31-33)cGc>cAc	p.R11H		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	11					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCTCGGACCGCTCCGCCTGG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(85;3 1441 23889 42519 42763)							NA				0													28	29	28			NA	NA	22		NA											NA				21272254		2202	4299	6501	SO:0001583	missense				CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942	1399	1399		SH2 domain containing	2363	protein-coding gene	gene with protein product		602007			NA	8361759, 8798523	Standard	NM_005207	NM_005207	NA	Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.32G>A	22.37:g.21272254G>A	ENSP00000346300:p.Arg11His	NA	A8KA44|D3DX35	37	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711248	0.96821	.	.	ENSG00000099942	ENST00000354336	T	0.69806	-0.43	5.27	5.27	0.74061	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.76666	0.4019	L	0.46885	1.475	0.80722	D	1	D	0.61697	0.99	D	0.69307	0.963	T	0.77579	-0.2535	10	0.59425	D	0.04	.	16.742	0.85462	0.0:0.0:1.0:0.0	.	11	P46109	CRKL_HUMAN	H	11	ENSP00000346300:R11H	ENSP00000346300:R11H	R	+	2	0	CRKL	19602254	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.444000	0.80532	2.627000	0.88993	0.650000	0.86243	CGC	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320158.1		+	ENST00000354336.3	Missense_Mutation	SNP	22 : 21272254 - 21272254 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	157	4
DOCK8	81704	broad.mit.edu	37	9	428461	428461	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr9:428461C>G	ENST00000469391.1	+	33	4217	c.4138C>G	c.(4138-4140)Cac>Gac	p.H1380D	DOCK8_ENST00000432829.2_Missense_Mutation_p.H1412D|DOCK8_ENST00000382329.1_Missense_Mutation_p.H947D|DOCK8_ENST00000453981.1_Missense_Mutation_p.H1480D	NM_001190458.1|NM_001193536.1	NP_001177387.1|NP_001180465.1	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1480	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTACCTGACTCACTGCTTTGC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	126	137			NA	NA	9		NA											NA				428461		2203	4300	6503	SO:0001583	missense			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099	81704	81704			19191	protein-coding gene	gene with protein product		611432			NA	11214971	Standard	XM_036307	NM_203447	NA	Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000469391.1:c.4138C>G	9.37:g.428461C>G	ENSP00000419438:p.His1380Asp	NA	A2A350|A2BDF2|A4FU78|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	37	CCDS55284.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175582	0.94807	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	M	0.89904	3.07	0.80722	D	1	D;D;D	0.58970	0.984;0.984;0.967	P;P;P	0.59221	0.805;0.854;0.808	D	0.85234	0.1034	10	0.72032	D	0.01	.	19.713	0.96103	0.0:1.0:0.0:0.0	.	1380;947;1480	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	D	1480;1448;1412;1380;947	ENSP00000408464:H1480D;ENSP00000394888:H1412D;ENSP00000419438:H1380D;ENSP00000371766:H947D	ENSP00000287364:H1448D	H	+	1	0	DOCK8	418461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.648000	0.89879	0.650000	0.86243	CAC	DOCK8-012	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354646.1		+	ENST00000469391.1	Missense_Mutation	SNP	9 : 428461 - 428461 G PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	215	13
GLRX	2745	broad.mit.edu	37	5	95152244	95152244	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr5:95152244C>T	ENST00000379979.4	-	2	345	c.294G>A	c.(292-294)cgG>cgA	p.R98R	GLRX_ENST00000237858.6_Silent_p.R98R|GLRX_ENST00000512469.2_Silent_p.R98R|GLRX_ENST00000508780.1_Silent_p.R98R|GLRX_ENST00000507605.1_5'UTR|GLRX_ENST00000505427.1_Silent_p.R98R	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	98	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TCTGCTTTAGCCGCGTCAGCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	75	77			NA	NA	5		NA											NA				95152244		2203	4300	6503	SO:0001819	synonymous_variant				CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221	2745	2745			4330	protein-coding gene	gene with protein product		600443			NA	8838810	Standard	NM_002064	NM_002064	NA	Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.294G>A	5.37:g.95152244C>T		NA	B2R4L2|Q3KQS1|Q6ICT1	37	CCDS4078.1																																																																																			GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000370267.1		-	ENST00000379979.4	Silent	SNP	5 : 95152244 - 95152244 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	225	5
GPLD1	2822	broad.mit.edu	37	6	24450108	24450108	+	Missense_Mutation	SNP	G	G	A	rs149093201		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:24450108G>A	ENST00000230036.1	-	15	1465	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	452						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGCCAAGGCCGAGCCAAACCG	0.622		NA											G	0	0	NA	NA	2184	NA	0.9999	,	,	NA	2e-04	NA	NA	NA	0	0.0499	EXOME	NA	NA	4e-04	SNP								NA				0								G	LEU/SER	0,4406		0,0,2203	107	99	101		1355	5.1	0.9	6	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GPLD1	NM_001503.2	145	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging	452/841	24450108	2,13004	2203	4300	6503	SO:0001583	missense			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293	2822	2822			4459	protein-coding gene	gene with protein product		602515			NA	11072085	Standard	NM_001503	NM_001503	NA	Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1355C>T	6.37:g.24450108G>A	ENSP00000230036:p.Ser452Leu	NA	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	37	CCDS4553.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	20.6	4.024960	0.75390	0.0	2.33E-4	ENSG00000112293	ENST00000230036	T	0.69561	-0.41	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000017	T	0.73946	0.3652	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69439	-0.5145	10	0.18276	T	0.48	-12.1527	18.1339	0.89610	0.0:0.0:1.0:0.0	.	452	P80108	PHLD_HUMAN	L	452	ENSP00000230036:S452L	ENSP00000230036:S452L	S	-	2	0	GPLD1	24558087	1.000000	0.71417	0.934000	0.37439	0.948000	0.59901	6.383000	0.73172	2.368000	0.80403	0.591000	0.81541	TCG	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043315.1		-	ENST00000230036.1	Missense_Mutation	SNP	6 : 24450108 - 24450108 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	398	52
GPR174	84636	broad.mit.edu	37	X	78426854	78426854	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:78426854T>A	ENST00000276077.1	+	1	386	c.350T>A	c.(349-351)tTt>tAt	p.F117Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	117						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTGCGACGATTTTGGTTTCTC	0.468		NA								HNSCC(63;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	191	200			NA	NA	X		NA											NA				78426854		2203	4300	6503	SO:0001583	missense			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138	84636	84636		GPCR / Class A : Orphans	30245	protein-coding gene	gene with protein product		300903			NA		Standard	NM_032553	NM_032553	NA	Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.350T>A	X.37:g.78426854T>A	ENSP00000276077:p.Phe117Tyr	NA	Q2M3F7	37	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	t	5.465	0.270931	0.10349	.	.	ENSG00000147138	ENST00000276077	T	0.41065	1.01	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.056736	0.64402	D	0.000001	T	0.22126	0.0533	N	0.16567	0.415	0.33746	D	0.620086	B	0.09022	0.002	B	0.18871	0.023	T	0.23833	-1.0177	10	0.02654	T	1	.	8.9269	0.35646	0.1684:0.0:0.0:0.8315	.	117	Q9BXC1	GP174_HUMAN	Y	117	ENSP00000276077:F117Y	ENSP00000276077:F117Y	F	+	2	0	GPR174	78313510	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.473000	0.53122	1.697000	0.51169	0.433000	0.28618	TTT	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057327.1		+	ENST00000276077.1	Missense_Mutation	SNP	X : 78426854 - 78426854 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	710	60
HRASLS	57110	broad.mit.edu	37	3	192988436	192988436	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr3:192988436T>A	ENST00000264735.2	+	4	858	c.764T>A	c.(763-765)gTt>gAt	p.V255D	HRASLS_ENST00000602513.1_Missense_Mutation_p.V150D	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	150										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ACAGCTGCTGTTGGTGTCTTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	153	158			NA	NA	3		NA											NA				192988436		2203	4300	6503	SO:0001583	missense			AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252	57110	57110			14922	protein-coding gene	gene with protein product		606487			NA		Standard		NM_020386	NA	Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000264735.2:c.764T>A	3.37:g.192988436T>A	ENSP00000264735:p.Val255Asp	NA		37	CCDS3303.2	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763169	0.49574	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.64	2.63	0.31362	.	0.234074	0.43416	D	0.000571	T	0.24967	0.0606	N	0.14661	0.345	0.42689	D	0.99357	P	0.43169	0.8	B	0.32289	0.143	T	0.05801	-1.0863	9	0.54805	T	0.06	-6.1788	10.6667	0.45734	0.0:0.8466:0.0:0.1534	.	150	Q9HDD0	HRSL1_HUMAN	D	150	.	ENSP00000264735:V150D	V	+	2	0	HRASLS	194471130	0.958000	0.32768	0.982000	0.44146	0.968000	0.65278	2.072000	0.41510	0.359000	0.24239	-0.263000	0.10527	GTT	HRASLS-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343020.2		+	ENST00000264735.2	Missense_Mutation	SNP	3 : 192988436 - 192988436 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	381	13
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs117718337		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).					p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	lung(2)|prostate(2)|endometrium(2)											129	123	125			NA	NA	16		NA											NA				71054178		1855	4094	5949	SO:0001583	missense			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423	54768	54768		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	19368	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 31	610812	hydrocephalus inducing, hydrocephalus inducing homolog (mouse)		NA	12719380, 23022101	Standard		NM_001198542	NA	Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val	NA	A6NC70|A6NLZ0|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398624.3		-	ENST00000393567.2	Missense_Mutation	SNP	16 : 71054178 - 71054178 C PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	220	5
IMPDH1	3614	broad.mit.edu	37	7	128035057	128035057	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:128035057G>A	ENST00000338791.6	-	14	1786	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M	IMPDH1_ENST00000343214.4_Missense_Mutation_p.T369M|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T443M|IMPDH1_ENST00000480861.1_Missense_Mutation_p.T389M|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T393M|IMPDH1_ENST00000354269.5_Missense_Mutation_p.T469M|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T369M|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T446M|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T410M	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	394					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	AGGGGCCTCCGTAGTGGCGGC	0.642		NA											G	4	0.0018	NA	NA	2184	0.01	1	,	,	NA	3e-04	NA	NA	NA	0.0018	0.9879	EXOME	NA	NA	1e-04	SNP								NA				0													45	55	52			NA	NA	7		NA											NA				128035057		2203	4300	6503	SO:0001583	missense				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	3614	3614	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	retinitis pigmentosa 10 (autosomal dominant), IMP (inosine monophosphate) dehydrogenase 1	RP10	NA	1969416, 11875049, 11875050	Standard	NM_000883	NM_000883	NA	Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000338791.6:c.1436C>T	7.37:g.128035057G>A	ENSP00000345096:p.Thr479Met	NA	A4D0Z7|A6NDW5|B3KNP7|Q8N194|Q96NU2	37	CCDS34749.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	19.24	3.788614	0.70337	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.62	4.62	0.57501	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;0.998;0.999;0.999;0.996;0.997;0.994	D;D;D;D;D;P;P;P	0.70016	0.967;0.935;0.92;0.955;0.955;0.823;0.889;0.893	D	0.86285	0.1670	10	0.87932	D	0	-11.3859	15.0316	0.71710	0.0:0.0:1.0:0.0	.	446;389;394;410;469;443;479;369	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	M	446;479;369;469;410;443;369;393;389	ENSP00000399400:T446M;ENSP00000345096:T479M;ENSP00000420803:T369M;ENSP00000346219:T469M;ENSP00000367989:T410M;ENSP00000265385:T443M;ENSP00000342438:T369M;ENSP00000417296:T393M;ENSP00000420185:T389M	ENSP00000345096:T479M	T	-	2	0	IMPDH1	127822293	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.218000	0.95166	2.409000	0.81822	0.561000	0.74099	ACG	IMPDH1-005	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349458.1		-	ENST00000338791.6	Missense_Mutation	SNP	7 : 128035057 - 128035057 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	569	30
KAT6A	7994	broad.mit.edu	37	8	41834629	41834629	+	Silent	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr8:41834629G>A	ENST00000396930.3	-	8	1803	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	KAT6A_ENST00000485568.1_Silent_p.S420S|KAT6A_ENST00000265713.2_Silent_p.S420S|KAT6A_ENST00000406337.1_Silent_p.S420S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	420	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding				NA						GCCCATCAGGGGAAGGGGTAA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	100	102			NA	NA	8		NA											NA				41834629		2203	4300	6503	SO:0001819	synonymous_variant			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	7994	7994		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	13013	protein-coding gene	gene with protein product	Monocytic leukemia zinc finger protein	601408	runt-related transcription factor binding protein 2, MYST histone acetyltransferase (monocytic leukemia) 3	ZNF220, RUNXBP2, MYST3	NA	8849440, 8782817	Standard	NM_006766	NM_001099412	NA	Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1260C>T	8.37:g.41834629G>A		NA	Q76L81	37	CCDS6124.1																																																																																			KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318163.1		-	ENST00000396930.3	Silent	SNP	8 : 41834629 - 41834629 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	406	11
KBTBD6	89890	broad.mit.edu	37	13	41705969	41705969	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr13:41705969G>A	ENST00000379485.1	-	1	913	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R161C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	227							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTATCCAAGCGCAGGACAGCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	76	77			NA	NA	13		NA											NA				41705969		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.679C>T	13.37:g.41705969G>A	ENSP00000368799:p.Arg227Cys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	8.936	0.964565	0.18583	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.69926	-0.44;-0.44	3.69	2.84	0.33178	BTB/Kelch-associated (2);	0.403521	0.25071	N	0.033363	T	0.53465	0.1798	L	0.47716	1.5	0.39301	D	0.964912	B;B	0.16396	0.013;0.017	B;B	0.12156	0.006;0.007	T	0.52177	-0.8610	10	0.46703	T	0.11	.	4.7523	0.13066	0.1156:0.0:0.6731:0.2113	.	161;227	F5GZN7;Q86V97	.;KBTB6_HUMAN	C	227;161	ENSP00000368799:R227C;ENSP00000444326:R161C	ENSP00000368799:R227C	R	-	1	0	KBTBD6	40603969	0.993000	0.37304	0.992000	0.48379	0.726000	0.41606	0.964000	0.29306	0.891000	0.36235	0.462000	0.41574	CGC	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705969 - 41705969 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	465	16
KIAA1109	84162	broad.mit.edu	37	4	123167847	123167847	+	Missense_Mutation	SNP	T	T	C	rs75923324		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:123167847T>C	ENST00000264501.4	+	34	5567	c.5194T>C	c.(5194-5196)Tgt>Cgt	p.C1732R	KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1732R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1732R			Q2LD37	K1109_HUMAN	KIAA1109	1732					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGTAAACTTATGTTTGTTACA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	ARG/CYS	0,3710		0,0,1855	114	110	111		5194	6.1	1	4	dbSNP_131	111	19,8169		0,19,4075	yes	missense	KIAA1109	NM_015312.3	180	0,19,5930	CC,CT,TT	NA	0.232,0.0,0.1597	probably-damaging	1732/5006	123167847	19,11879	1855	4094	5949	SO:0001583	missense			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688	84162	84162			26953	protein-coding gene	gene with protein product	fragile site-associated	611565			NA	16386706	Standard	NM_020797	NM_015312	NA	Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5194T>C	4.37:g.123167847T>C	ENSP00000264501:p.Cys1732Arg	NA	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565412	0.86439	0.0	0.00232	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.26373	2.32;2.32;1.74	6.1	6.1	0.99115	.	0.000000	0.49916	U	0.000128	T	0.37865	0.1019	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.994;0.991	T	0.27226	-1.0080	10	0.59425	D	0.04	.	16.686	0.85306	0.0:0.0:0.0:1.0	.	1731;1732	Q2LD37-2;Q2LD37	.;K1109_HUMAN	R	1732	ENSP00000264501:C1732R;ENSP00000373390:C1732R;ENSP00000389925:C1732R	ENSP00000264501:C1732R	C	+	1	0	KIAA1109	123387297	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.830000	0.86741	2.340000	0.79590	0.528000	0.53228	TGT	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316415.1		+	ENST00000264501.4	Missense_Mutation	SNP	4 : 123167847 - 123167847 C PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	417	26
KIF24	347240	broad.mit.edu	37	9	34311094	34311094	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr9:34311094C>T	ENST00000402558.2	-	1	275	c.251G>A	c.(250-252)cGc>cAc	p.R84H	KIF24_ENST00000379174.3_Missense_Mutation_p.R84H|KIF24_ENST00000379166.2_Missense_Mutation_p.R84H|KIF24_ENST00000345050.2_Missense_Mutation_p.R84H			Q5T7B8	KIF24_HUMAN	kinesin family member 24	84					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGATTTGATGCGCAGGCTGCT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	89	92			NA	NA	9		NA											NA				34311094		1913	4123	6036	SO:0001583	missense			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638	347240	347240		Kinesins, Sterile alpha motif (SAM) domain containing	19916	protein-coding gene	gene with protein product		613747	chromosome 9 open reading frame 48	C9orf48	NA	12477932	Standard		NM_194313	NA	Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.251G>A	9.37:g.34311094C>T	ENSP00000384433:p.Arg84His	NA	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	37	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.298945	0.00243	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.33	-3.11	0.05299	.	1.777690	0.03267	N	0.184207	T	0.06142	0.0159	N	0.03608	-0.345	0.09310	N	1	B;B	0.26258	0.145;0.054	B;B	0.14023	0.01;0.004	T	0.24225	-1.0166	10	0.15952	T	0.53	.	4.7677	0.13141	0.1156:0.463:0.1071:0.3143	.	84;84	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	H	84	ENSP00000384433:R84H;ENSP00000368472:R84H;ENSP00000368464:R84H;ENSP00000340179:R84H	ENSP00000340179:R84H	R	-	2	0	KIF24	34301094	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.077000	0.11394	-0.464000	0.06963	-0.312000	0.09012	CGC	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052150.5		-	ENST00000402558.2	Missense_Mutation	SNP	9 : 34311094 - 34311094 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	183	15
KLHL32	114792	broad.mit.edu	37	6	97424015	97424015	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:97424015C>A	ENST00000369261.4	+	3	529	c.166C>A	c.(166-168)Cac>Aac	p.H56N	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Missense_Mutation_p.H56N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H56N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	56	BTB.									breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATTCCATGCTCACAAGGCAGT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	81	89			NA	NA	6		NA											NA				97424015		2203	4300	6503	SO:0001583	missense			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231	114792	114792		Kelch-like, BTB/POZ domain containing	21221	protein-coding gene	gene with protein product			BTB and kelch domain containing 5, KIAA1900, kelch-like 32 (Drosophila)	BKLHD5, KIAA1900	NA		Standard	NM_052904	NM_052904	NA	Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.166C>A	6.37:g.97424015C>A	ENSP00000358265:p.His56Asn	NA	E1P528|Q5THT0|Q96PY7	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464888	0.84425	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.79141	-1.24;1.22;1.22;-1.24	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	M	0.89785	3.06	0.80722	D	1	D;P;D;D	0.89917	1.0;0.936;1.0;0.999	D;P;D;D	0.97110	0.999;0.885;1.0;0.995	D	0.91142	0.4946	10	0.87932	D	0	.	18.7846	0.91949	0.0:1.0:0.0:0.0	.	56;56;56;56	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	N	56	ENSP00000358265:H56N;ENSP00000440382:H56N;ENSP00000441527:H56N;ENSP00000358258:H56N	ENSP00000358258:H56N	H	+	1	0	KLHL32	97530736	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.320000	0.79064	2.674000	0.91012	0.591000	0.81541	CAC	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041570.1		+	ENST00000369261.4	Missense_Mutation	SNP	6 : 97424015 - 97424015 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	296	25
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	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-HV-A5A5-Tumor-SM-47KKY	112	7
LRFN1	57622	broad.mit.edu	37	19	39804836	39804836	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:39804836C>T	ENST00000248668.4	-	1	1140	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	381	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCCACGGGCGCCGTCGCTTCC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	30	28			NA	NA	19		NA											NA				39804836		2176	4262	6438	SO:0001583	missense			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011	57622	57622		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	29290	protein-coding gene	gene with protein product		612807			NA	10819331, 16828986	Standard	NM_020862	NM_020862	NA	Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1141G>A	19.37:g.39804836C>T	ENSP00000248668:p.Ala381Thr	NA	Q8TBS9	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510446	0.64522	.	.	ENSG00000128011	ENST00000248668	T	0.68624	-0.34	4.53	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000444	T	0.65923	0.2738	N	0.25286	0.73	0.58432	D	0.999998	P	0.46952	0.887	P	0.55391	0.775	T	0.66492	-0.5910	10	0.40728	T	0.16	.	14.7902	0.69837	0.0:1.0:0.0:0.0	.	381	Q9P244	LRFN1_HUMAN	T	381	ENSP00000248668:A381T	ENSP00000248668:A381T	A	-	1	0	LRFN1	44496676	0.996000	0.38824	0.615000	0.29064	0.472000	0.32918	2.624000	0.46444	2.352000	0.79861	0.655000	0.94253	GCG	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463835.1		-	ENST00000248668.4	Missense_Mutation	SNP	19 : 39804836 - 39804836 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	203	7
LRRTM4	80059	broad.mit.edu	37	2	77746270	77746270	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr2:77746270C>T	ENST00000409088.3	-	3	1139	c.725G>A	c.(724-726)cGc>cAc	p.R242H	LRRTM4_ENST00000409093.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242H	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	242						integral to membrane		p.R242H(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTAATGGAGCGAATCCTGTT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											57	54	55			NA	NA	2		NA											NA				77746270		1891	4099	5990	SO:0001583	missense			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204	80059	80059			19411	protein-coding gene	gene with protein product		610870			NA	12676565	Standard	NM_024993	NM_024993	NA	Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409088.3:c.725G>A	2.37:g.77746270C>T	ENSP00000386236:p.Arg242His	NA	Q4FZ98|Q6UXJ7	37	CCDS46347.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853202	0.51270	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.93	5.93	0.95920	.	0.133674	0.50627	D	0.000114	T	0.66036	0.2749	N	0.25031	0.7	0.44570	D	0.997532	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.97;0.949;0.983	T	0.68112	-0.5495	10	0.62326	D	0.03	.	18.9104	0.92481	0.0:1.0:0.0:0.0	.	243;242;242	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	243;242;242;242;243	ENSP00000387228:R243H;ENSP00000387297:R242H;ENSP00000386357:R242H;ENSP00000386236:R242H;ENSP00000386286:R243H	ENSP00000386236:R242H	R	-	2	0	LRRTM4	77599778	0.966000	0.33281	1.000000	0.80357	0.997000	0.91878	1.999000	0.40806	2.798000	0.96311	0.655000	0.94253	CGC	LRRTM4-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328226.1		-	ENST00000409088.3	Missense_Mutation	SNP	2 : 77746270 - 77746270 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	108	11
MAP3K15	389840	broad.mit.edu	37	X	19392682	19392682	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:19392682G>A	ENST00000359173.3	-	17	2013	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R728C|MAP3K15_ENST00000338883.4_Missense_Mutation_p.R896C			Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	896							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTGGTGGCACGTTTGTGGGGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	101	110			NA	NA	X		NA											NA				19392682		2203	4300	6503	SO:0001583	missense			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815	389840	389840		Mitogen-activated protein kinase cascade / Kinase kinase kinases	31689	protein-coding gene	gene with protein product		300820			NA		Standard	NM_001001671	NM_001001671	NA	Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000359173.3:c.991C>T	X.37:g.19392682G>A	ENSP00000352093:p.Arg331Cys	NA	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	37		.	.	.	.	.	.	.	.	.	.	G	18.20	3.570696	0.65765	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72051	-0.62;-0.62;-0.62	5.56	5.56	0.83823	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	D	0.92087	0.7492	H	0.99752	4.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95672	0.8724	10	0.87932	D	0	.	18.8298	0.92133	0.0:0.0:1.0:0.0	.	371;896	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	C	896;331;728	ENSP00000345629:R896C;ENSP00000352093:R331C;ENSP00000428356:R728C	ENSP00000345629:R896C	R	-	1	0	MAP3K15	19302603	1.000000	0.71417	0.238000	0.24106	0.532000	0.34746	4.772000	0.62324	2.479000	0.83701	0.600000	0.82982	CGT	MAP3K15-004	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000286445.2		-	ENST00000359173.3	Missense_Mutation	SNP	X : 19392682 - 19392682 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	354	26
MMP13	4322	broad.mit.edu	37	11	102816457	102816457	+	Silent	SNP	A	A	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:102816457A>T	ENST00000260302.3	-	9	1261	c.1233T>A	c.(1231-1233)atT>atA	p.I411I	MMP13_ENST00000340273.4_Silent_p.I411I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	411	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTTTATCCATAATATGGTTAG	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	111	111			NA	NA	11		NA											NA				102816457		2202	4298	6500	SO:0001819	synonymous_variant			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745	4322	4322		Endogenous ligands	7159	protein-coding gene	gene with protein product	collagenase 3	600108	matrix metalloproteinase 13 (collagenase 3)		NA	8207000	Standard	NM_002427	NM_002427	NA	Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1233T>A	11.37:g.102816457A>T		NA		37	CCDS8324.1																																																																																			MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386648.1		-	ENST00000260302.3	Silent	SNP	11 : 102816457 - 102816457 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	229	16
MT1B	4490	broad.mit.edu	37	16	56686964	56686964	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:56686964G>A	ENST00000334346.2	+	3	228	c.173G>A	c.(172-174)cGc>cAc	p.R58H	MT1B_ENST00000562399.1_Silent_p.P57P	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	58	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GAGAAGTGCCGCTGCTGTGCC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	93	93			NA	NA	16		NA											NA				56686964		2198	4300	6498	SO:0001583	missense			AY168638	CCDS10765.1	16q13	2008-02-05	2007-03-02		ENSG00000169688	ENSG00000169688	4490	4490		Metallothioneins	7394	protein-coding gene	gene with protein product		156349	metallothionein 1Q	MT1, MT1Q	NA	6089206, 3785191	Standard	NM_005947	NM_005947	NA	Approved		uc002ejs.3	P07438	OTTHUMG00000133277	ENST00000334346.2:c.173G>A	16.37:g.56686964G>A	ENSP00000334998:p.Arg58His	NA		37	CCDS10765.1	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738792	0.15642	.	.	ENSG00000169688	ENST00000334346	T	0.09911	2.93	3.06	0.876	0.19138	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.285648	0.28140	U	0.016444	T	0.07413	0.0187	.	.	.	0.80722	D	1	P	0.39116	0.66	B	0.32762	0.152	T	0.24693	-1.0153	9	0.87932	D	0	.	5.4103	0.16344	0.1233:0.2054:0.6713:0.0	.	58	P07438	MT1B_HUMAN	H	58	ENSP00000334998:R58H	ENSP00000334998:R58H	R	+	2	0	MT1B	55244465	1.000000	0.71417	0.895000	0.35142	0.011000	0.07611	1.851000	0.39338	0.104000	0.17725	-0.279000	0.10071	CGC	MT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257057.2		+	ENST00000334346.2	Missense_Mutation	SNP	16 : 56686964 - 56686964 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	564	44
NEK5	341676	broad.mit.edu	37	13	52661584	52661584	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr13:52661584G>A	ENST00000355568.4	-	15	1421	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	428							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R485G(1)|p.R428G(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAGATGGACGAAGACCCTAT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											108	101	103			NA	NA	13		NA											NA				52661584		2203	4300	6503	SO:0001583	missense			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168	341676	341676			7748	protein-coding gene	gene with protein product			NIMA (never in mitosis gene a)-related kinase 5		NA	9552363	Standard	NM_199289	XM_006719807	NA	Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1282C>T	13.37:g.52661584G>A	ENSP00000347767:p.Arg428Cys	NA	Q5TAP5	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913462	0.52439	.	.	ENSG00000197168	ENST00000355568	T	0.79247	-1.25	5.45	2.83	0.33086	.	0.000000	0.64402	D	0.000003	D	0.84061	0.5389	M	0.65498	2.005	0.33027	D	0.529691	D	0.89917	1.0	D	0.91635	0.999	D	0.85308	0.1077	10	0.87932	D	0	.	7.7703	0.29004	0.2616:0.0:0.7384:0.0	.	428	Q6P3R8	NEK5_HUMAN	C	428	ENSP00000347767:R428C	ENSP00000347767:R428C	R	-	1	0	NEK5	51559585	1.000000	0.71417	0.992000	0.48379	0.707000	0.40811	1.885000	0.39678	0.286000	0.22352	-0.812000	0.03155	CGT	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045045.3		-	ENST00000355568.4	Missense_Mutation	SNP	13 : 52661584 - 52661584 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	483	22
NOTCH2	4853	broad.mit.edu	37	1	120458964	120458964	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr1:120458964C>G	ENST00000256646.2	-	34	6600	c.6381G>C	c.(6379-6381)aaG>aaC	p.K2127N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2127					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTACTACCCTTGGCATCCT	0.507		NA	N, F, Mis		marginal zone lymphoma, DLBCL				Alagille Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													152	137	142			NA	NA	1		NA											NA				120458964		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250	4853	4853		Ankyrin repeat domain containing	7882	protein-coding gene	gene with protein product		600275	Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila)		NA	7698746	Standard	NM_024408	NM_001200001	NA	Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6381G>C	1.37:g.120458964C>G	ENSP00000256646:p.Lys2127Asn	NA	Q5T3X7|Q99734|Q9H240	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777249	0.31411	.	.	ENSG00000134250	ENST00000256646	D	0.83250	-1.7	5.5	4.59	0.56863	.	0.000000	0.39615	U	0.001310	T	0.69557	0.3124	M	0.61703	1.905	0.44012	D	0.996729	B	0.14438	0.01	B	0.10450	0.005	T	0.70934	-0.4737	10	0.51188	T	0.08	.	9.6325	0.39787	0.0:0.8419:0.0:0.1581	.	2127	Q04721	NOTC2_HUMAN	N	2127	ENSP00000256646:K2127N	ENSP00000256646:K2127N	K	-	3	2	NOTCH2	120260487	0.996000	0.38824	1.000000	0.80357	0.791000	0.44710	0.961000	0.29267	1.320000	0.45209	0.561000	0.74099	AAG	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033679.1		-	ENST00000256646.2	Missense_Mutation	SNP	1 : 120458964 - 120458964 G PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	574	8
PCK2	5106	broad.mit.edu	37	14	24569250	24569250	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr14:24569250C>T	ENST00000561286.1	+	7	991	c.660C>T	c.(658-660)gcC>gcT	p.A220A	PCK2_ENST00000216780.4_Silent_p.A354A|PCK2_ENST00000396973.4_Silent_p.A354A|PCK2_ENST00000558096.1_Silent_p.A220A|PCK2_ENST00000545054.2_Silent_p.A220A|PCK2_ENST00000559250.1_Silent_p.A366A|NRL_ENST00000561028.1_Intron			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	354					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTGGGGTTGCCCCTGGTACCT	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	115	113			NA	NA	14		NA											NA				24569250		2203	4300	6503	SO:0001819	synonymous_variant			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	5106	5106	4.1.1.32		8725	protein-coding gene	gene with protein product		614095			NA	8645161, 9657976	Standard	NM_001018073	XM_005267726	NA	Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000561286.1:c.660C>T	14.37:g.24569250C>T		NA	O43253|Q86U01|Q9BV62	37																																																																																				PCK2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000416426.1		+	ENST00000561286.1	Silent	SNP	14 : 24569250 - 24569250 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	842	111
PCSK7	9159	broad.mit.edu	37	11	117079626	117079626	+	Missense_Mutation	SNP	G	G	C	rs145981335	by1000genomes	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:117079626G>C	ENST00000320934.3	-	13	2308	c.1678C>G	c.(1678-1680)Cgc>Ggc	p.R560G	PCSK7_ENST00000540028.1_Missense_Mutation_p.R201G	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	560	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCATGCTGCGGGGGGCGCCG	0.597		NA	T	IGH@	MLCLS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													40	43	42			NA	NA	11		NA											NA				117079626		2201	4296	6497	SO:0001583	missense			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613	9159	9159			8748	protein-coding gene	gene with protein product		604872			NA	8615762, 9820811	Standard	NM_004716	XM_006718938	NA	Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1678C>G	11.37:g.117079626G>C	ENSP00000325917:p.Arg560Gly	NA	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	37	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082462	0.36758	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.71222	-0.55;-0.55	4.68	3.77	0.43336	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.85099	2.735	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	D	0.83562	0.0107	10	0.87932	D	0	-26.4093	7.8865	0.29653	0.0864:0.0:0.7545:0.1591	.	560	Q16549	PCSK7_HUMAN	G	560;201;560	ENSP00000325917:R560G;ENSP00000441944:R201G	ENSP00000325917:R560G	R	-	1	0	PCSK7	116584836	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.527000	0.35975	1.207000	0.43291	-0.362000	0.07510	CGC	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385529.2		-	ENST00000320934.3	Missense_Mutation	SNP	11 : 117079626 - 117079626 C PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	110	14
PHKA2	5256	broad.mit.edu	37	X	18956750	18956750	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:18956750C>G	ENST00000379942.4	-	10	1701	c.1036G>C	c.(1036-1038)Gtt>Ctt	p.V346L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	346					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTCACCTGAACAGCATCACCA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	102	104			NA	NA	X		NA											NA				18956750		2203	4300	6503	SO:0001583	missense				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	5256	5256	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK	NA	2387090	Standard	NM_000292	NM_000292	NA	Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.1036G>C	X.37:g.18956750C>G	ENSP00000369274:p.Val346Leu	NA	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	c	13.19	2.163684	0.38217	.	.	ENSG00000044446	ENST00000379942	D	0.92805	-3.11	4.53	3.65	0.41850	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.184470	0.46145	N	0.000306	D	0.85457	0.5701	L	0.38175	1.15	0.38841	D	0.956057	B	0.02656	0.0	B	0.08055	0.003	T	0.78961	-0.1997	10	0.41790	T	0.15	-9.3948	6.1366	0.20237	0.0:0.6738:0.1786:0.1476	.	346	P46019	KPB2_HUMAN	L	346	ENSP00000369274:V346L	ENSP00000369274:V346L	V	-	1	0	PHKA2	18866671	0.974000	0.33945	0.709000	0.30452	0.843000	0.47879	3.060000	0.49955	0.809000	0.34255	0.597000	0.82753	GTT	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055960.1		-	ENST00000379942.4	Missense_Mutation	SNP	X : 18956750 - 18956750 G PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	390	36
POF1B	79983	broad.mit.edu	37	X	84560887	84560887	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:84560887C>T	ENST00000262753.4	-	13	1492	c.1347G>A	c.(1345-1347)ttG>ttA	p.L449L	POF1B_ENST00000373145.3_Silent_p.L449L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	449							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTTAGCCTGCAACATTGGGC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	142	150			NA	NA	X		NA											NA				84560887		2203	4300	6503	SO:0001819	synonymous_variant			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429	79983	79983			13711	protein-coding gene	gene with protein product		300603			NA	11299520	Standard	NM_024921	NM_024921	NA	Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1347G>A	X.37:g.84560887C>T		NA	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	37	CCDS14452.1																																																																																			POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057391.2		-	ENST00000262753.4	Silent	SNP	X : 84560887 - 84560887 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	416	27
PSG4	5672	broad.mit.edu	37	19	43702149	43702149	+	Splice_Site	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:43702149G>A	ENST00000405312.3	-	3	946	c.709C>T	c.(709-711)Cca>Tca	p.P237S	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Splice_Site_p.H237Y	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	237	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.P237T(1)|p.H237N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGATACTCACGGAGGAGATTC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											40	48	45			NA	NA	19		NA											NA				43702149		2110	4239	6349	SO:0001630	splice_region_variant				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137	5672	5672		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9521	protein-coding gene	gene with protein product	pregnancy-specific beta-1-glycoprotein 4	176393			NA	2783133	Standard	NM_213633	NM_002780	NA	Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.709+1C>T	19.37:g.43702149G>A		NA	Q13047|Q13048|Q15234|Q15240|Q9UQ76	37	CCDS46093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	4.459|4.459	0.085043|0.085043	0.08583|0.08583	.|.	.|.	ENSG00000243137|ENSG00000243137	ENST00000244295|ENST00000405312	T|T	0.34667|0.59772	1.35|0.24	1.96|1.96	-0.726|-0.726	0.11170|0.11170	.|Immunoglobulin-like (1);	.|.	.|.	.|.	.|.	T|T	0.44973|0.44973	0.1319|0.1319	L|L	0.49126|0.49126	1.545|1.545	0.09310|0.09310	N|N	1|1	B|B	0.06786|0.18310	0.001|0.027	B|B	0.08055|0.19946	0.003|0.027	T|T	0.32188|0.32188	-0.9916|-0.9916	9|9	0.02654|0.31617	T|T	1|0.26	.|.	4.4957|4.4957	0.11835|0.11835	0.6207:0.0:0.3793:0.0|0.6207:0.0:0.3793:0.0	.|.	237|237	Q00888-2|Q00888	.|PSG4_HUMAN	Y|S	237|237	ENSP00000244295:H237Y|ENSP00000384770:P237S	ENSP00000244295:H237Y|ENSP00000384770:P237S	H|P	-|-	1|1	0|0	PSG4|PSG4	48393989|48393989	0.003000|0.003000	0.15002|0.15002	0.008000|0.008000	0.14137|0.14137	0.006000|0.006000	0.05464|0.05464	-1.087000|-1.087000	0.03383|0.03383	-0.365000|-0.365000	0.08076|0.08076	-1.218000|-1.218000	0.01608|0.01608	CAT|CCA	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000323073.1	Missense_Mutation	-	ENST00000405312.3	Splice_Site	SNP	19 : 43702149 - 43702149 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	1125	84
SGK1	6446	broad.mit.edu	37	6	134491968	134491973	+	In_Frame_Del	DEL	TTTGGG	TTTGGG	-			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	TTTGGG	TTTGGG	-	-	TTTGGG	TTTGGG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:134491968_134491973delTTTGGG	ENST00000367858.5	-	13	2001_2006	c.1404_1409delCCCAAA	c.(1402-1410)aacccaaat>aat	p.468_470NPN>N	SGK1_ENST00000367857.5_In_Frame_Del_p.363_365NPN>N|SGK1_ENST00000413996.3_In_Frame_Del_p.387_389NPN>N|SGK1_ENST00000475719.2_In_Frame_Del_p.329_331NPN>N|SGK1_ENST00000237305.7_In_Frame_Del_p.373_375NPN>N|SGK1_ENST00000528577.1_In_Frame_Del_p.401_403NPN>N	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	373					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACTCACCACATTTGGGTTAAAAGGGG	0.388		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:0001651	inframe_deletion			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515	6446	6446			10810	protein-coding gene	gene with protein product		602958	serum/glucocorticoid regulated kinase	SGK	NA	9114008, 9722955	Standard		NM_005627	NA	Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367858.5:c.1404_1409delCCCAAA	6.37:g.134491968_134491973delTTTGGG	ENSP00000356832:p.Asn468_Pro469del	NA	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	37	CCDS47476.1																																																																																			SGK1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042304.2		-	ENST00000367858.5	In_Frame_Del	DEL	6 : 134491968 - 134491973 - PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	663	25
SPNS3	201305	broad.mit.edu	37	17	4356344	4356344	+	Silent	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:4356344C>T	ENST00000355530.2	+	8	1237	c.957C>T	c.(955-957)ggC>ggT	p.G319G	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.G192G	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	319					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCATGACCGGCGTCATTGGGG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	85	87			NA	NA	17		NA											NA				4356344		2203	4300	6503	SO:0001819	synonymous_variant				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557	201305	201305			28433	protein-coding gene	gene with protein product		611701			NA		Standard	NM_182538	NM_182538	NA	Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.957C>T	17.37:g.4356344C>T		NA	Q8IZ31	37	CCDS11045.1																																																																																			SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438793.1		+	ENST00000355530.2	Silent	SNP	17 : 4356344 - 4356344 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	488	21
TCP10	6953	broad.mit.edu	37	6	167789546	167789546	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:167789546C>T	ENST00000366827.2	-	6	807	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	TCP10_ENST00000397829.4_Missense_Mutation_p.R199Q			Q12799	TCP10_HUMAN	t-complex 10	226						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TTGCGGACTTCGGGAAGATGG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	41			NA	NA	6		NA											NA				167789546		1967	4170	6137	SO:0001583	missense			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690	6953	6953			11656	protein-coding gene	gene with protein product		187020	t-complex 10 (a murine tcp homolog), t-complex 10 (mouse), t-complex 10 homolog (mouse)		NA	8111376	Standard	NM_004610	NM_004610	NA	Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000366827.2:c.596G>A	6.37:g.167789546C>T	ENSP00000355792:p.Arg199Gln	NA	Q5JR60|Q6P4F4	37		.	.	.	.	.	.	.	.	.	.	C	10.68	1.417194	0.25552	.	.	ENSG00000203690	ENST00000366827;ENST00000397829	T;T	0.12361	2.69;2.69	1.65	-1.26	0.09376	.	.	.	.	.	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	D;B	0.64830	0.994;0.185	P;B	0.62382	0.901;0.006	T	0.17623	-1.0363	9	0.72032	D	0.01	.	4.5266	0.11985	0.0:0.4475:0.0:0.5525	.	226;226	Q12799;Q12799-2	TCP10_HUMAN;.	Q	199	ENSP00000355792:R199Q;ENSP00000380929:R199Q	ENSP00000355792:R199Q	R	-	2	0	TCP10	167709536	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-2.900000	0.00704	-0.317000	0.08677	0.306000	0.20318	CGA	TCP10-001	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000043135.3		-	ENST00000366827.2	Missense_Mutation	SNP	6 : 167789546 - 167789546 T PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	162	4
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:7578235T>A	ENST00000420246.2	-	6	746	c.614A>T	c.(613-615)tAt>tTt	p.Y205F	TP53_ENST00000445888.2_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F|TP53_ENST00000359597.4_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000269305.4_Missense_Mutation_p.Y205F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCATCCAAATACTCCACACG	0.542		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)											136	121	126			NA	NA	17		NA											NA				7578235		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.614A>T	17.37:g.7578235T>A	ENSP00000391127:p.Tyr205Phe	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966153	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	M	0.88906	2.99	0.54753	D	0.999982	D;D;D;D;D;D;D	0.69078	0.962;0.996;0.99;0.996;0.995;0.986;0.997	D;D;D;D;D;D;D	0.76071	0.946;0.984;0.966;0.979;0.987;0.979;0.969	D	0.97337	0.9954	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205F;ENSP00000352610:Y205F;ENSP00000269305:Y205F;ENSP00000398846:Y205F;ENSP00000391127:Y205F;ENSP00000391478:Y205F;ENSP00000425104:Y73F;ENSP00000423862:Y112F	ENSP00000269305:Y205F	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578235 - 7578235 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	232	21
VKORC1	79001	broad.mit.edu	37	16	31102595	31102595	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:31102595C>A	ENST00000319788.7	-	4	644	c.434G>T	c.(433-435)tGt>tTt	p.C145F	RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Missense_Mutation_p.V118F|VKORC1_ENST00000394971.3_Missense_Mutation_p.C149F|VKORC1_ENST00000354895.4_Missense_Mutation_p.C81F|VKORC1_ENST00000300851.6_Missense_Mutation_p.C138F|VKORC1_ENST00000498155.1_Missense_Mutation_p.C150F			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCCAGGTAGACAGAACCAGCG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	80	84			NA	NA	16		NA											NA				31102595		2197	4300	6497	SO:0001583	missense				CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397	79001	79001			23663	protein-coding gene	gene with protein product		608547	vitamin K dependent clotting factors deficiency 2	VKCFD2	NA		Standard	NM_024006	NM_024006	NA	Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000319788.7:c.434G>T	16.37:g.31102595C>A	ENSP00000326135:p.Cys145Phe	NA	B2R4Z6|Q6UX90|Q7Z2R4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.16|16.16	3.045854|3.045854	0.55110|0.55110	.|.	.|.	ENSG00000167397|ENSG00000167397	ENST00000300851;ENST00000319788;ENST00000354895;ENST00000394971;ENST00000498155|ENST00000394975	D;D;D|D	0.98120|0.98264	-4.39;-4.73;-4.09|-4.83	5.92|5.92	-3.16|-3.16	0.05217|0.05217	.|Vitamin K epoxide reductase (2);	.|0.619698	.|0.14857	.|N	.|0.294303	D|D	0.95204|0.95204	0.8445|0.8445	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B;B|B	0.30824|0.16603	0.296;0.128|0.018	B;B|B	0.29785|0.22152	0.107;0.035|0.038	T|T	0.82508|0.82508	-0.0422|-0.0422	8|8	0.87932|.	D|.	0|.	-15.2501|-15.2501	18.204|18.204	0.89848|0.89848	0.0:0.1877:0.7473:0.065|0.0:0.1877:0.7473:0.065	.|.	145;81|118	Q9BQB6-2;A6NIQ6|Q9BQB6	.;.|VKOR1_HUMAN	F|F	138;145;81;149;150|118	ENSP00000300851:C138F;ENSP00000326135:C145F;ENSP00000346969:C81F|ENSP00000378426:V118F	ENSP00000300851:C138F|.	C|V	-|-	2|1	0|0	VKORC1|VKORC1	31010096|31010096	0.565000|0.565000	0.26610|0.26610	0.676000|0.676000	0.29932|0.29932	0.976000|0.976000	0.68499|0.68499	0.092000|0.092000	0.15066|0.15066	-0.397000|-0.397000	0.07691|0.07691	-0.244000|-0.244000	0.11960|0.11960	TGT|GTC	VKORC1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000108583.1		-	ENST00000319788.7	Missense_Mutation	SNP	16 : 31102595 - 31102595 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	154	9
WNT7A	7476	broad.mit.edu	37	3	13860786	13860786	+	Silent	SNP	G	G	A			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr3:13860786G>A	ENST00000285018.4	-	4	1009	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	235					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCACGTGAACGGCCTCGTTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	102	105			NA	NA	3		NA											NA				13860786		2203	4300	6503	SO:0001819	synonymous_variant			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764	7476	7476		Wingless-type MMTV integration sites	12786	protein-coding gene	gene with protein product	proto-oncogene Wnt7a protein	601570			NA	8893824, 9161407	Standard	NM_004625	NM_004625	NA	Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.705C>T	3.37:g.13860786G>A		NA	Q96H90|Q9Y560	37	CCDS2616.1																																																																																			WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252031.2		-	ENST00000285018.4	Silent	SNP	3 : 13860786 - 13860786 A PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	443	17
ZNF286B	729288	broad.mit.edu	37	17	18565373	18565373	+	Silent	SNP	A	A	G	rs147985634	by1000genomes	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:18565373A>G	ENST00000285274.5	-	0	1513				ZNF286B_ENST00000545289.1_Silent_p.L482L			P0CG31	Z286B_HUMAN	zinc finger protein 286B	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GATGTTGAATAAGAGCTGATG	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	151	155			NA	NA	17		NA											NA				18565373		692	1591	2283	SO:0001624	3_prime_UTR_variant				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459	729288	729288		Zinc fingers, C2H2-type	33241	protein-coding gene	gene with protein product	zinc finger protein 590		zinc finger protein 286-like, zinc finger 286C pseudogene	ZNF286L, ZNF286C	NA		Standard	XM_001723047	NM_001145045	NA	Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000285274.5:c.*1096T>C	17.37:g.18565373A>G		NA		37																																																																																				ZNF286B-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000131052.3		-	ENST00000285274.5	3'UTR	SNP	17 : 18565373 - 18565373 G PAAD-TCGA-HV-A5A5-Tumor-SM-47KKY	208	5
