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
ABCC9	10060	broad.mit.edu	37	12	21968727	21968727	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:21968727G>A	ENST00000261200.4	-	32	3992	c.3993C>T	c.(3991-3993)caC>caT	p.H1331H	ABCC9_ENST00000345162.2_Silent_p.H1295H|ABCC9_ENST00000261201.4_Silent_p.H1331H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1331	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGCCTTGACGTGCTTAAGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4406		0,0,2203	164	150	155		3993,3993	0.2	1	12		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABCC9	NM_005691.2,NM_020297.2	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	1331/1550,1331/1550	21968727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431	10060	10060		ATP binding cassette transporters / subfamily C	60	protein-coding gene	gene with protein product	sulfonylurea receptor 2	601439			NA	9457174, 15034580	Standard	NM_005691	NM_020297	NA	Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.3993C>T	12.37:g.21968727G>A		NA	O60707	37	CCDS8693.1																																																																																			ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402228.1		-	ENST00000261200.4	Silent	SNP	12 : 21968727 - 21968727 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	544	48
ADAMTS12	81792	broad.mit.edu	37	5	33546294	33546294	+	Missense_Mutation	SNP	C	C	G			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:33546294C>G	ENST00000504830.1	-	22	4651	c.4316G>C	c.(4315-4317)tGt>tCt	p.C1439S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1354S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1439	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCACCTCCACAGGACCTGGA	0.468		NA								HNSCC(64;0.19)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	65	68			NA	NA	5		NA											NA				33546294		2203	4300	6503	SO:0001583	missense			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	81792	81792		ADAM metallopeptidases with thrombospondin type 1 motif	14605	protein-coding gene	gene with protein product		606184	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12		NA	11279086	Standard	NM_030955	NM_030955	NA	Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4316G>C	5.37:g.33546294C>G	ENSP00000422554:p.Cys1439Ser	NA	A2RRN9|A5D6V6|Q6UWL3	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950606	0.73787	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.79033	-1.23;-1.23	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	H	0.99847	4.84	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	D	0.96252	0.9184	10	0.87932	D	0	.	14.9937	0.71412	0.0:1.0:0.0:0.0	.	1354;1439	P58397-3;P58397	.;ATS12_HUMAN	S	1439;1354	ENSP00000422554:C1439S;ENSP00000344847:C1354S	ENSP00000344847:C1354S	C	-	2	0	ADAMTS12	33582051	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.457000	0.60088	2.605000	0.88082	0.655000	0.94253	TGT	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367164.2		-	ENST00000504830.1	Missense_Mutation	SNP	5 : 33546294 - 33546294 G PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	212	34
ATAD2B	54454	broad.mit.edu	37	2	23977530	23977530	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:23977530C>T	ENST00000238789.5	-	26	4536	c.4193G>A	c.(4192-4194)cGt>cAt	p.R1398H	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1398							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATCTCTCACGATCAACTAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	88	87			NA	NA	2		NA											NA				23977530		1860	4089	5949	SO:0001583	missense			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778	54454	54454		ATPases / AAA-type	29230	protein-coding gene	gene with protein product		615347			NA		Standard	NM_017552	XM_005264372	NA	Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4193G>A	2.37:g.23977530C>T	ENSP00000238789:p.Arg1398His	NA	B9ZVQ5|Q6ZNA6|Q8N9E7	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.192|5.192	0.221047|0.221047	0.09863|0.09863	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.90261|.	-2.64|.	5.39|5.39	-4.04|-4.04	0.04010|0.04010	.|.	0.279593|.	0.29438|.	N|.	0.012153|.	T|T	0.05410|0.05410	0.0143|0.0143	N|N	0.00095|0.00095	-2.16|-2.16	0.22675|0.22675	N|N	0.998867|0.998867	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.45308|0.45308	-0.9270|-0.9270	10|5	0.02654|.	T|.	1|.	.|.	11.5971|11.5971	0.50979|0.50979	0.0:0.4558:0.0:0.5442|0.0:0.4558:0.0:0.5442	.|.	1398;1393|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	H|M	1398;566|674	ENSP00000238789:R1398H|.	ENSP00000238789:R1398H|.	R|V	-|-	2|1	0|0	ATAD2B|ATAD2B	23831034|23831034	0.195000|0.195000	0.23338|0.23338	0.527000|0.527000	0.27925|0.27925	0.987000|0.987000	0.75469|0.75469	-0.109000|-0.109000	0.10840|0.10840	-0.957000|-0.957000	0.03627|0.03627	0.650000|0.650000	0.86243|0.86243	CGT|GTG	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324333.1		-	ENST00000238789.5	Missense_Mutation	SNP	2 : 23977530 - 23977530 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	377	24
ATF6B	1388	broad.mit.edu	37	6	32093957	32093957	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:32093957C>T	ENST00000375201.4	-	5	451	c.406G>A	c.(406-408)Gac>Aac	p.D136N	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Missense_Mutation_p.D139N			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	139					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GATGTTGGGTCATCTCCCAGG	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	111	116			NA	NA	6		NA											NA				32093957		2203	4300	6503	SO:0001583	missense				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676	1388	1388		basic leucine zipper proteins	2349	protein-coding gene	gene with protein product		600984	cAMP responsive element binding protein-like 1	CREBL1	NA	11256944, 14973138	Standard		NM_004381	NA	Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375201.4:c.406G>A	6.37:g.32093957C>T	ENSP00000364347:p.Asp136Asn	NA	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	37	CCDS47408.1	.	.	.	.	.	.	.	.	.	.	C	7.560	0.664502	0.14710	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.55588	0.51;1.25	5.25	3.44	0.39384	.	0.566730	0.15890	U	0.239616	T	0.26955	0.0660	L	0.51422	1.61	0.25129	N	0.990582	P;B;B	0.40731	0.728;0.277;0.181	P;B;B	0.44359	0.447;0.109;0.051	T	0.11542	-1.0583	10	0.15066	T	0.55	-1.4539	6.9996	0.24803	0.0:0.7337:0.1747:0.0917	.	139;136;139	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	N	139;136	ENSP00000364349:D139N;ENSP00000364347:D136N	ENSP00000364347:D136N	D	-	1	0	ATF6B	32201935	0.976000	0.34144	0.989000	0.46669	0.994000	0.84299	1.092000	0.30927	0.774000	0.33427	0.650000	0.86243	GAC	ATF6B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076637.2		-	ENST00000375201.4	Missense_Mutation	SNP	6 : 32093957 - 32093957 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	496	38
C7orf33	202865	broad.mit.edu	37	7	148288176	148288176	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:148288176C>T	ENST00000307003.2	+	1	520	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	53								p.G53G(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGTTAGGGGCGGTCCAGGTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											100	82	88			NA	NA	7		NA											NA				148288176		2203	4300	6503	SO:0001819	synonymous_variant			BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279	202865	202865			21724	protein-coding gene	gene with protein product					NA		Standard	NM_145304	NM_145304	NA	Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.159C>T	7.37:g.148288176C>T		NA		37	CCDS5890.1																																																																																			C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327684.1		+	ENST00000307003.2	Silent	SNP	7 : 148288176 - 148288176 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	693	99
CCDC74B	91409	broad.mit.edu	37	2	130897920	130897920	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:130897920G>A	ENST00000310463.6	-	5	845	c.708C>T	c.(706-708)aaC>aaT	p.N236N	CCDC74B_ENST00000392984.3_Silent_p.N338N|CCDC74B_ENST00000409943.3_Silent_p.N170N	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	236										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CAGCTCCTGCGTTAGAGGCCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	104	101			NA	NA	2		NA											NA				130897920		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076	91409	91409			25267	protein-coding gene	gene with protein product					NA		Standard	NM_207310	NM_001258307	NA	Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.708C>T	2.37:g.130897920G>A		NA	Q6NW18	37	CCDS2155.1																																																																																			CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254522.3		-	ENST00000310463.6	Silent	SNP	2 : 130897920 - 130897920 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	481	10
CCDC85A	114800	broad.mit.edu	37	2	56419682	56419682	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:56419682G>A	ENST00000407595.2	+	2	849	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GATGATGACCGGCAGAAAGGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	83	81			NA	NA	2		NA											NA				56419682		1972	4159	6131	SO:0001583	missense			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813	114800	114800			29400	protein-coding gene	gene with protein product					NA	11572484	Standard		NM_001080433	NA	Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.347G>A	2.37:g.56419682G>A	ENSP00000384040:p.Arg116Gln	NA		37	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021809	0.93462	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.27	5.27	0.74061	.	0.051335	0.85682	D	0.000000	D	0.83871	0.5348	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86316	0.1689	9	0.87932	D	0	-27.2196	18.8832	0.92365	0.0:0.0:1.0:0.0	.	116	Q96PX6	CC85A_HUMAN	Q	116	.	ENSP00000384040:R116Q	R	+	2	0	CCDC85A	56273186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.455000	0.83008	0.655000	0.94253	CGG	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324993.1		+	ENST00000407595.2	Missense_Mutation	SNP	2 : 56419682 - 56419682 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	409	56
CDKN2A	1029	broad.mit.edu	37	9	21974764	21974784	+	In_Frame_Del	DEL	GGCCGCGGCCGTGGCCAGCCA	GGCCGCGGCCGTGGCCAGCCA	-	rs138677674		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	GGCCGCGGCCGTGGCCAGCCA	GGCCGCGGCCGTGGCCAGCCA	-	-	GGCCGCGGCCGTGGCCAGCCA	GGCCGCGGCCGTGGCCAGCCA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:21974764_21974784delGGCCGCGGCCGTGGCCAGCCA	ENST00000304494.5	-	1	313_333	c.43_63delTGGCTGGCCACGGCCGCGGCC	c.(43-63)tggctggccacggccgcggccdel	p.WLATAAA15del	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.WLATAAA15del|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.WLATAAA15del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.WLATAAA15del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(7)|p.L16fs*9(4)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.T18P(2)|p.A21D(2)|p.L16P(2)|p.L16_A17insAT(1)|p.W15L(1)|p.R22fs*14(1)|p.S12fs*20(1)|p.A20E(1)|p.S7_A19del(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.T18M(1)|p.A20fs*26(1)|p.A20_A21del(1)|p.A17fs*5(1)|p.A20S(1)|p.A17T(1)|p.L16R(1)|p.A20fs*6(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCGACCCCGGGCCGCGGCCGTGGCCAGCCAGTCAGCCGAA	0.747		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1382	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(17)|Deletion - Frameshift(9)|Substitution - Nonsense(7)|Insertion - In frame(5)|Deletion - In frame(2)|Substitution - coding silent(2)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(280)|skin(172)|central_nervous_system(166)|lung(149)|urinary_tract(90)|bone(73)|soft_tissue(58)|upper_aerodigestive_tract(54)|oesophagus(53)|pleura(52)|pancreas(37)|ovary(35)|kidney(31)|breast(30)|biliary_tract(15)|thyroid(14)|NS(12)|stomach(12)|liver(11)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|prostate(4)|thymus(4)|vulva(2)|endometrium(2)|adrenal_gland(1)	GRCh37	CD951646|CI983050|CM023346|CM960269|CM980321|CM994496	CDKN2A	D|I|M	rs138677674						NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.43_63delTGGCTGGCCACGGCCGCGGCC	9.37:g.21974764_21974784delGGCCGCGGCCGTGGCCAGCCA	ENSP00000307101:p.Trp15_Ala21del	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37	CCDS6510.1																																																																																			CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051915.1		-	ENST00000304494.5	In_Frame_Del	DEL	9 : 21974764 - 21974784 - PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	483	74
CEP112	201134	broad.mit.edu	37	17	64092738	64092738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:64092738G>A	ENST00000392769.2	-	7	873	c.655C>T	c.(655-657)Cga>Tga	p.R219*	CEP112_ENST00000535342.2_Nonsense_Mutation_p.R219*|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	219						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTCAGGTATCGAGGATTTTCT	0.279		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	30	29			NA	NA	17		NA											NA				64092738		2203	4292	6495	SO:0001587	stop_gained			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240	201134	201134			28514	protein-coding gene	gene with protein product			coiled-coil domain containing 46	CCDC46	NA	21399614	Standard	NM_145036	NM_145036	NA	Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.655C>T	17.37:g.64092738G>A	ENSP00000376522:p.Arg219*	NA	Q6PIB5|Q8NCR4|Q8NFR4	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	38	6.881819	0.97908	.	.	ENSG00000154240	ENST00000535342;ENST00000392769	.	.	.	5.87	4.83	0.62350	.	0.080846	0.47093	D	0.000252	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4747	13.1216	0.59329	0.0:0.0:0.8005:0.1995	.	.	.	.	X	219	.	ENSP00000376522:R219X	R	-	1	2	CEP112	61523200	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.413000	0.44618	2.785000	0.95823	0.591000	0.81541	CGA	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446582.1		-	ENST00000392769.2	Nonsense_Mutation	SNP	17 : 64092738 - 64092738 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	301	21
CORIN	10699	broad.mit.edu	37	4	47682234	47682234	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:47682234G>A	ENST00000273857.4	-	8	1055	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	CORIN_ENST00000508498.1_Silent_p.D213D|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Silent_p.D285D|CORIN_ENST00000505909.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	352	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGCAGCGCCCGTCCCCGCAGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	87	96			NA	NA	4		NA											NA				47682234		2203	4300	6503	SO:0001819	synonymous_variant			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244	10699	10699		Serine peptidases / Transmembrane	19012	protein-coding gene	gene with protein product		605236	corin, serine protease		NA	10329693	Standard		NM_006587	NA	Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1056C>T	4.37:g.47682234G>A		NA	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	37	CCDS3477.1																																																																																			CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216906.2		-	ENST00000273857.4	Silent	SNP	4 : 47682234 - 47682234 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	233	39
DNHD1	144132	broad.mit.edu	37	11	6592936	6592936	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:6592936C>T	ENST00000527990.2	+	41	13982	c.13982C>T	c.(13981-13983)gCg>gTg	p.A4661V	DNHD1_ENST00000254579.6_Missense_Mutation_p.A4661V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4661					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTCCTACATGCGGAGTGGGAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4179		0,1,2089	34	44	41		13982	4.8	0.1	11		41	0,8430		0,0,4215	no	missense	DNHD1	NM_144666.2	64	0,1,6304	TT,TC,CC	NA	0.0,0.0239,0.0079	probably-damaging	4661/4754	6592936	1,12609	2090	4215	6305	SO:0001583	missense			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532	144132	144132			26532	protein-coding gene	gene with protein product			chromosome 11 open reading frame 47, dynein heavy chain domain 1-like, coiled-coil domain containing 35	DHCD1, C11orf47, DNHD1L, CCDC35	NA	12975309	Standard	NM_144666	NM_173589	NA	Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13982C>T	11.37:g.6592936C>T	ENSP00000436180:p.Ala4661Val	NA	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306357	0.81247	2.39E-4	0.0	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.16196	2.36;2.36	4.75	4.75	0.60458	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.40886	0.1135	M	0.67953	2.075	0.32829	D	0.503832	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50499	-0.8821	10	0.48119	T	0.1	-13.3807	16.6824	0.85296	0.0:1.0:0.0:0.0	.	3749;714;4661	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	V	4661;4661;929	ENSP00000254579:A4661V;ENSP00000436180:A4661V	ENSP00000254579:A4661V	A	+	2	0	DNHD1	6549512	0.984000	0.35163	0.085000	0.20634	0.766000	0.43426	4.130000	0.57964	2.468000	0.83385	0.655000	0.94253	GCG	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384673.2		+	ENST00000527990.2	Missense_Mutation	SNP	11 : 6592936 - 6592936 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	121	14
EFTUD1	79631	broad.mit.edu	37	15	82551447	82551447	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:82551447G>A	ENST00000268206.7	-	3	309	c.141C>T	c.(139-141)tcC>tcT	p.S47S	EFTUD1_ENST00000359445.3_Intron	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	47					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTAGGCGGCTGGAGATGATTC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	118	119			NA	NA	15		NA											NA				82551447		1828	4085	5913	SO:0001819	synonymous_variant			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598	79631	79631			25789	protein-coding gene	gene with protein product	ribosome assembly 1 homolog (yeast)				NA	14702039	Standard	NM_024580	NM_024580	NA	Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.141C>T	15.37:g.82551447G>A		NA	A6NKY5|B7Z6I0|Q9H8Z6	37	CCDS42071.1																																																																																			EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419252.1		-	ENST00000268206.7	Silent	SNP	15 : 82551447 - 82551447 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	494	10
FERMT1	55612	broad.mit.edu	37	20	6078257	6078257	+	Missense_Mutation	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:6078257G>C	ENST00000217289.4	-	7	1659	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	FERMT1_ENST00000536936.1_Missense_Mutation_p.Q34E	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	291	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCATAGAGTTGGTTTATTCGG	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	135	138			NA	NA	20		NA											NA				6078257		2203	4300	6503	SO:0001583	missense			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311	55612	55612		Fermitins, Pleckstrin homology (PH) domain containing	15889	protein-coding gene	gene with protein product	kindlin-1, kinderlin	607900	chromosome 20 open reading frame 42, fermitin family homolog 1 (Drosophila)	C20orf42	NA	12697302, 12789646	Standard	NM_017671	NM_017671	NA	Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.871C>G	20.37:g.6078257G>C	ENSP00000217289:p.Gln291Glu	NA	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	37	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883375	0.91740	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.80304	-1.36;-1.36	5.64	5.64	0.86602	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.994;0.999	D	0.91498	0.5217	10	0.72032	D	0.01	-13.9011	19.3066	0.94165	0.0:0.0:1.0:0.0	.	291;291;291	B2RAX1;Q9BQL6-4;Q9BQL6	.;.;FERM1_HUMAN	E	291;34;291	ENSP00000217289:Q291E;ENSP00000441063:Q34E	ENSP00000217289:Q291E	Q	-	1	0	FERMT1	6026257	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.405000	0.97313	2.673000	0.90976	0.555000	0.69702	CAA	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077908.2		-	ENST00000217289.4	Missense_Mutation	SNP	20 : 6078257 - 6078257 C PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	600	103
FRMPD1	22844	broad.mit.edu	37	9	37708488	37708488	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:37708488G>A	ENST00000539465.1	+	4	945	c.352G>A	c.(352-354)Gat>Aat	p.D118N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D118N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	118	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACGAGCAGTCGATATTCTCAG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	88	90			NA	NA	9		NA											NA				37708488		2203	4300	6503	SO:0001583	missense			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601	22844	22844			29159	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014907	NM_014907	NA	Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.352G>A	9.37:g.37708488G>A	ENSP00000444411:p.Asp118Asn	NA	D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696486	0.30142	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.38722	1.12;1.12	5.91	0.863	0.19062	PDZ/DHR/GLGF (4);	0.448448	0.27294	N	0.020031	T	0.22282	0.0537	N	0.17901	0.54	0.31784	N	0.630458	B	0.17268	0.021	B	0.15052	0.012	T	0.09228	-1.0684	10	0.33940	T	0.23	-0.9785	5.2235	0.15381	0.311:0.1378:0.5512:0.0	.	118	Q5SYB0	FRPD1_HUMAN	N	118	ENSP00000366995:D118N;ENSP00000444411:D118N	ENSP00000366995:D118N	D	+	1	0	FRMPD1	37698488	0.009000	0.17119	0.038000	0.18304	0.878000	0.50629	-0.224000	0.09164	-0.092000	0.12417	0.650000	0.86243	GAT	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402969.1		+	ENST00000539465.1	Missense_Mutation	SNP	9 : 37708488 - 37708488 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	431	78
FZD10	11211	broad.mit.edu	37	12	130648005	130648005	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:130648005G>A	ENST00000539839.1	+	1	1002	c.420G>A	c.(418-420)gcG>gcA	p.A140A	FZD10_ENST00000229030.4_Missense_Mutation_p.R173Q	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	0	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGGCCGCAGCGGCCCCACAGC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	18	17			NA	NA	12		NA											NA				130648005		2063	4026	6089	SO:0001819	synonymous_variant			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432	11211	11211		GPCR / Class F : Frizzled receptors, CD molecules	4039	protein-coding gene	gene with protein product		606147	frizzled (Drosophila) homolog 10, frizzled homolog 10 (Drosophila), frizzled 10, seven transmembrane spanning receptor, frizzled family receptor 10		NA	10448064	Standard		NM_007197	NA	Approved	CD350	uc001uii.3	Q9ULW2		ENST00000539839.1:c.420G>A	12.37:g.130648005G>A		NA		37		.	.	.	.	.	.	.	.	.	.	G	8.719	0.913863	0.17907	.	.	ENSG00000111432	ENST00000229030	T	0.76060	-0.99	4.94	4.05	0.47172	.	0.386985	0.19916	U	0.103198	T	0.58552	0.2130	N	0.21448	0.665	0.47698	D	0.99949	B	0.17852	0.024	B	0.06405	0.002	T	0.50127	-0.8864	10	0.13470	T	0.59	.	13.0224	0.58796	0.0791:0.0:0.9209:0.0	.	173	Q9ULW2	FZD10_HUMAN	Q	173	ENSP00000229030:R173Q	ENSP00000229030:R173Q	R	+	2	0	FZD10	129213958	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.087000	0.57671	1.060000	0.40578	0.491000	0.48974	CGG	FZD10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000399508.1		+	ENST00000539839.1	Silent	SNP	12 : 130648005 - 130648005 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	297	23
HPR	3250	broad.mit.edu	37	16	72110604	72110604	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:72110604C>T	ENST00000540303.2	+	5	703	c.671C>T	c.(670-672)tCt>tTt	p.S224F	HPR_ENST00000356967.5_Missense_Mutation_p.S224F|HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.S261F	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	224	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGTTACGTGTCTGGCTGGGGA	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	138	155			NA	NA	16		NA											NA				72110604		2060	4186	6246	SO:0001583	missense			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701	3250	3250			5156	protein-coding gene	gene with protein product		140210			NA	2987228, 16778136	Standard	NM_020995	NM_020995	NA	Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.671C>T	16.37:g.72110604C>T	ENSP00000441828:p.Ser224Phe	NA	Q7LE20|Q92658|Q92659|Q9ULB0	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	11.02	1.515799	0.27123	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.93811	-3.29;-3.29;-3.29	2.5	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.068951	0.64402	D	0.000013	D	0.96676	0.8915	M	0.92122	3.275	0.37659	D	0.922709	D	0.76494	0.999	D	0.78314	0.991	D	0.96891	0.9653	10	0.87932	D	0	.	8.5567	0.33485	0.0:0.76:0.24:0.0	.	224	P00739	HPTR_HUMAN	F	224;224;261	ENSP00000349451:S224F;ENSP00000441828:S224F;ENSP00000228226:S261F	ENSP00000228226:S261F	S	+	2	0	HP	70668105	0.998000	0.40836	0.906000	0.35671	0.026000	0.11368	3.369000	0.52365	1.386000	0.46466	0.205000	0.17691	TCT	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421696.1		+	ENST00000540303.2	Missense_Mutation	SNP	16 : 72110604 - 72110604 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	677	105
ICA1	3382	broad.mit.edu	37	7	8258081	8258081	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:8258081G>A	ENST00000402384.3	-	6	699	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	ICA1_ENST00000422063.2_Missense_Mutation_p.R145W|ICA1_ENST00000265577.7_Missense_Mutation_p.R144W|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000401396.1_Missense_Mutation_p.R133W|ICA1_ENST00000407906.1_Missense_Mutation_p.R145W|ICA1_ENST00000396675.3_Missense_Mutation_p.R145W|ICA1_ENST00000406470.2_Missense_Mutation_p.R145W			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	145	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GCCCGATGCCGAAAAGTCTCC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	100	106			NA	NA	7		NA											NA				8258081		2203	4300	6503	SO:0001583	missense				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147	3382	3382			5343	protein-coding gene	gene with protein product		147625	islet cell autoantigen 1 (69kD)		NA	7918678, 8777998	Standard	NM_004968	NM_001276478	NA	Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.433C>T	7.37:g.8258081G>A	ENSP00000385570:p.Arg145Trp	NA	A8K7U1|P78506|Q13824	37	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284344	0.80803	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367;ENST00000447326	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.82	4.92	0.64577	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	M	0.64567	1.98	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.976;0.999;0.98;1.0;0.97;1.0	D	0.86066	0.1535	10	0.51188	T	0.08	-16.4668	13.94	0.64048	0.0:0.0:0.6576:0.3423	.	145;145;144;133;145;133	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	W	145;145;144;145;133;145;145;133;145	ENSP00000385570:R145W;ENSP00000385651:R145W;ENSP00000265577:R144W;ENSP00000379908:R145W;ENSP00000385305:R133W;ENSP00000403982:R145W;ENSP00000386021:R145W;ENSP00000316074:R133W;ENSP00000398435:R145W	ENSP00000265577:R144W	R	-	1	2	ICA1	8224606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.099000	0.57755	1.397000	0.46682	0.655000	0.94253	CGG	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324793.1		-	ENST00000402384.3	Missense_Mutation	SNP	7 : 8258081 - 8258081 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	436	72
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	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-M8-A5N4-Tumor-SM-47KKI	101	11
LRP10	26020	broad.mit.edu	37	14	23346384	23346384	+	Missense_Mutation	SNP	G	G	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:23346384G>T	ENST00000359591.4	+	7	2481	c.1790G>T	c.(1789-1791)gGt>gTt	p.G597V	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	597					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGTGGCACAGGTCCAGCCCGT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	38	36			NA	NA	14		NA											NA				23346384		2201	4296	6497	SO:0001583	missense			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324	26020	26020		Low density lipoprotein receptors	14553	protein-coding gene	gene with protein product		609921			NA	11123907	Standard		XM_005267510	NA	Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1790G>T	14.37:g.23346384G>T	ENSP00000352601:p.Gly597Val	NA	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	37	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	6.223	0.409237	0.11812	.	.	ENSG00000197324	ENST00000359591	D	0.93019	-3.15	4.9	4.0	0.46444	.	0.526557	0.20965	N	0.082496	D	0.89708	0.6793	L	0.44542	1.39	0.09310	N	0.99999	B	0.32968	0.392	B	0.37387	0.248	T	0.83140	-0.0109	10	0.51188	T	0.08	-4.5206	7.5525	0.27806	0.1908:0.0:0.8092:0.0	.	597	Q7Z4F1	LRP10_HUMAN	V	597	ENSP00000352601:G597V	ENSP00000352601:G597V	G	+	2	0	LRP10	22416224	0.000000	0.05858	0.057000	0.19452	0.102000	0.19082	0.245000	0.18142	1.418000	0.47098	0.462000	0.41574	GGT	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071663.3		+	ENST00000359591.4	Missense_Mutation	SNP	14 : 23346384 - 23346384 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	424	83
NFRKB	4798	broad.mit.edu	37	11	129753985	129753985	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:129753985C>T	ENST00000446488.3	-	7	899	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NFRKB_ENST00000304521.5_Missense_Mutation_p.E266K|NFRKB_ENST00000524794.1_Missense_Mutation_p.E291K|NFRKB_ENST00000524746.1_Missense_Mutation_p.E266K	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	266					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCCGCTTCTCGTGGTGCTTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													334	275	295			NA	NA	11		NA											NA				129753985		2201	4297	6498	SO:0001583	missense				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322	4798	4798		INO80 complex subunits	7802	protein-coding gene	gene with protein product	nuclear factor related to kappa B binding protein, DNA-binding protein R kappa B, INO80 complex subunit G	164013			NA	1427843	Standard	NM_006165	NM_006165	NA	Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.796G>A	11.37:g.129753985C>T	ENSP00000400476:p.Glu266Lys	NA	Q12869|Q15312|Q9H048	37	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579891	0.65992	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	N	0.24115	0.695	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.986;0.981;0.992;0.994	T	0.60652	-0.7221	9	0.28530	T	0.3	-28.5975	20.6439	0.99570	0.0:1.0:0.0:0.0	.	278;266;266;291	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	K	266;266;291;266;278	.	ENSP00000303800:E266K	E	-	1	0	NFRKB	129259195	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.899000	0.69846	2.884000	0.98904	0.655000	0.94253	GAG	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386063.2		-	ENST00000446488.3	Missense_Mutation	SNP	11 : 129753985 - 129753985 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	929	145
OBSCN	84033	broad.mit.edu	37	1	228475547	228475547	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:228475547C>T	ENST00000570156.2	+	41	11058	c.10984C>T	c.(10984-10986)Cgc>Tgc	p.R3662C	OBSCN_ENST00000366707.4_Missense_Mutation_p.R352C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R352C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2080C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3233C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3233C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2695	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATACAGCCTACGCCAGGAGGG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG,CYS/ARG	2,4294		0,2,2146	79	87	84		9697,9697	4.2	1	1		84	0,8494		0,0,4247	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	180,180	0,2,6393	TT,TC,CC	NA	0.0,0.0466,0.0156	probably-damaging,probably-damaging	3233/7969,3233/6621	228475547	2,12788	2148	4247	6395	SO:0001583	missense			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358	84033	84033		Rho guanine nucleotide exchange factors, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	15719	protein-coding gene	gene with protein product		608616			NA	11448995, 11814696	Standard	NM_052843	NM_001098623	NA	Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000570156.2:c.10984C>T	1.37:g.228475547C>T	ENSP00000455507:p.Arg3662Cys	NA	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	37	CCDS59204.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875638	0.51695	4.66E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.06	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.075114	0.48286	N	0.000199	T	0.79511	0.4458	M	0.89095	3.005	0.41537	D	0.988493	D;D	0.89917	1.0;1.0	D;P	0.72625	0.978;0.886	T	0.77958	-0.2392	10	0.37606	T	0.19	.	3.8297	0.08868	0.2637:0.5173:0.136:0.0829	.	3233;3233	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3233;3233;352;352;2080	ENSP00000284548:R3233C;ENSP00000409493:R3233C;ENSP00000355668:R352C;ENSP00000355670:R352C;ENSP00000352613:R2080C	ENSP00000284548:R3233C	R	+	1	0	OBSCN	226542170	0.059000	0.20769	0.965000	0.40720	0.044000	0.14063	1.922000	0.40045	1.136000	0.42199	0.561000	0.74099	CGC	OBSCN-011	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421354.3		+	ENST00000570156.2	Missense_Mutation	SNP	1 : 228475547 - 228475547 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	406	35
OR5D14	219436	broad.mit.edu	37	11	55563781	55563781	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:55563781C>T	ENST00000335605.1	+	1	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGACTTCTATCACCATCTTCC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	97	100			NA	NA	11		NA											NA				55563781		2200	4296	6496	SO:0001819	synonymous_variant			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113	219436	219436		GPCR / Class A : Olfactory receptors	15281	protein-coding gene	gene with protein product					NA		Standard	NM_001004735	NM_001004735	NA	Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.750C>T	11.37:g.55563781C>T		NA	Q6IF69|Q6IFD4|Q96RB5	37	CCDS31508.1																																																																																			OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391513.1		+	ENST00000335605.1	Silent	SNP	11 : 55563781 - 55563781 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	579	33
OR6Y1	391112	broad.mit.edu	37	1	158517227	158517227	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:158517227G>A	ENST00000302617.3	-	1	668	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATAGCAGCGTAGGATGCCA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	1		NA											NA				158517227		2202	4300	6502	SO:0001819	synonymous_variant			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532	391112	391112		GPCR / Class A : Olfactory receptors	14823	protein-coding gene	gene with protein product				OR6Y2	NA		Standard	NM_001005189	NM_001005189	NA	Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.669C>T	1.37:g.158517227G>A		NA	Q6IFS0	37	CCDS30899.1																																																																																			OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051844.1		-	ENST00000302617.3	Silent	SNP	1 : 158517227 - 158517227 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	423	57
OR7D4	125958	broad.mit.edu	37	19	9325150	9325150	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:9325150G>A	ENST00000308682.2	-	1	392	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GCCACAAACCGGTCATAGGCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	79	82			NA	NA	19		NA											NA				9325150		2203	4300	6503	SO:0001583	missense				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667	125958	125958		GPCR / Class A : Olfactory receptors	8380	protein-coding gene	gene with protein product		611538		OR7D4P	NA		Standard		NM_001005191	NA	Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.364C>T	19.37:g.9325150G>A	ENSP00000310488:p.Arg122Trp	NA	A8CAH8|B9EH79	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	9.590	1.125799	0.20959	.	.	ENSG00000174667	ENST00000308682	T	0.77620	-1.11	4.0	0.493	0.16878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.81240	0.4781	H	0.97390	3.995	0.33784	D	0.62468	B	0.22211	0.066	B	0.08055	0.003	T	0.78301	-0.2257	10	0.87932	D	0	.	5.4796	0.16717	0.1815:0.0:0.6597:0.1588	.	122	Q8NG98	OR7D4_HUMAN	W	122	ENSP00000310488:R122W	ENSP00000310488:R122W	R	-	1	2	OR7D4	9186150	0.375000	0.25089	0.907000	0.35723	0.323000	0.28346	0.213000	0.17521	0.107000	0.17824	-0.436000	0.05848	CGG	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449004.1		-	ENST00000308682.2	Missense_Mutation	SNP	19 : 9325150 - 9325150 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	449	71
P2RY4	5030	broad.mit.edu	37	X	69478725	69478725	+	Silent	SNP	C	C	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:69478725C>A	ENST00000374519.2	-	1	929	c.750G>T	c.(748-750)gtG>gtT	p.V250V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	250					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGACAGTCAGCACCACAGCTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	60	64			NA	NA	X		NA											NA				69478725		2203	4300	6503	SO:0001819	synonymous_variant			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912	5030	5030		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	8542	protein-coding gene	gene with protein product		300038			NA	8537336	Standard	NM_002565	NM_002565	NA	Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.750G>T	X.37:g.69478725C>A		NA	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	37	CCDS14398.1																																																																																			P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057058.2		-	ENST00000374519.2	Silent	SNP	X : 69478725 - 69478725 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	238	39
PCDHB8	56128	broad.mit.edu	37	5	140559743	140559743	+	Missense_Mutation	SNP	G	G	A	rs142723933	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:140559743G>A	ENST00000239444.2	+	1	2373	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCT	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	97	96			NA	NA	5		NA											NA				140559743		2201	4298	6499	SO:0001583	missense			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322	56128	56128		Cadherins / Protocadherins : Clustered	8693	other	protocadherin		606334			NA	10380929	Standard	NM_019120	NM_019120	NA	Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2128G>A	5.37:g.140559743G>A	ENSP00000239444:p.Val710Met	NA		37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988166	0.53934	.	.	ENSG00000120322	ENST00000239444	T	0.15256	2.44	4.22	0.734	0.18294	.	.	.	.	.	T	0.26955	0.0660	M	0.92317	3.295	0.09310	N	1	P	0.38745	0.645	B	0.35770	0.21	T	0.19451	-1.0305	9	0.72032	D	0.01	.	8.2196	0.31532	0.4409:0.0:0.5591:0.0	.	710	Q9UN66	PCDB8_HUMAN	M	710	ENSP00000239444:V710M	ENSP00000239444:V710M	V	+	1	0	PCDHB8	140539927	0.011000	0.17503	0.084000	0.20598	0.243000	0.25628	0.173000	0.16724	0.252000	0.21531	0.298000	0.19748	GTG	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251816.2		+	ENST00000239444.2	Missense_Mutation	SNP	5 : 140559743 - 140559743 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	1222	101
PRAMEF1	65121	broad.mit.edu	37	1	12854372	12854372	+	Missense_Mutation	SNP	T	T	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:12854372T>C	ENST00000332296.7	+	3	699	c.596T>C	c.(595-597)tTg>tCg	p.L199S		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	199										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAAGTCATTGAAAATAATA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													266	266	266			NA	NA	1		NA											NA				12854372		2203	4300	6503	SO:0001583	missense			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721	65121	65121		-	28840	protein-coding gene	gene with protein product					NA		Standard	NM_023013	NM_023013	NA	Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.596T>C	1.37:g.12854372T>C	ENSP00000332134:p.Leu199Ser	NA	Q9UQP2	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.22	1.290503	0.23478	.	.	ENSG00000116721	ENST00000332296	T	0.01304	5.03	1.74	-0.699	0.11277	.	0.103357	0.40385	N	0.001104	T	0.06462	0.0166	M	0.86651	2.83	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11817	-1.0572	10	0.66056	D	0.02	.	4.2602	0.10737	0.0:0.4723:0.0:0.5277	.	199	O95521	PRAM1_HUMAN	S	199	ENSP00000332134:L199S	ENSP00000332134:L199S	L	+	2	0	PRAMEF1	12776959	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.259000	0.18405	-0.203000	0.10251	-0.451000	0.05528	TTG	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005458.1		+	ENST00000332296.7	Missense_Mutation	SNP	1 : 12854372 - 12854372 C PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	4354	214
PROX1	5629	broad.mit.edu	37	1	214170479	214170479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:214170479C>T	ENST00000366958.4	+	2	1209	c.601C>T	c.(601-603)Cga>Tga	p.R201*	PROX1_ENST00000498508.2_Nonsense_Mutation_p.R201*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.R201*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.R201*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	201					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGTGAGTCCCCGAGAAAGTTA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	1		NA											NA				214170479		2203	4300	6503	SO:0001587	stop_gained			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707	5629	5629		Homeoboxes / PROS class	9459	protein-coding gene	gene with protein product		601546	prospero-related homeobox 1		NA	8812486	Standard	NM_002763	NM_002763	NA	Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.601C>T	1.37:g.214170479C>T	ENSP00000355925:p.Arg201*	NA	A6NK29|A8K2B1|Q5SW76|Q8TB91	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	43	10.327939	0.99384	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	6.07	6.07	0.98685	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-1.8463	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	.	.	.	X	201	.	ENSP00000261454:R201X	R	+	1	2	PROX1	212237102	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.382000	0.44345	2.885000	0.99019	0.655000	0.94253	CGA	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089727.6		+	ENST00000366958.4	Nonsense_Mutation	SNP	1 : 214170479 - 214170479 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	404	11
RASL10B	91608	broad.mit.edu	37	17	34062239	34062239	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:34062239G>A	ENST00000268864.3	+	2	413	c.36G>A	c.(34-36)gcG>gcA	p.A12A		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	12	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTGGGGGCGCGAGGTGTGG	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	61	62			NA	NA	17		NA											NA				34062239		2202	4300	6502	SO:0001819	synonymous_variant			BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885	91608	91608			30295	protein-coding gene	gene with protein product		612128			NA	12477932	Standard	NM_033315	NM_033315	NA	Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.36G>A	17.37:g.34062239G>A		NA		37	CCDS11297.1																																																																																			RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256498.2		+	ENST00000268864.3	Silent	SNP	17 : 34062239 - 34062239 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	352	62
RFPL3	10738	broad.mit.edu	37	22	32756681	32756681	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:32756681C>T	ENST00000249007.4	+	2	1021	c.816C>T	c.(814-816)agC>agT	p.S272S	RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Silent_p.S243S|RFPL3_ENST00000397468.1_Silent_p.S243S|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	272	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CATTCAGGAGCGTCTCTGCTG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	96	101			NA	NA	22		NA											NA				32756681		2203	4300	6503	SO:0001819	synonymous_variant			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276	10738	10738			9980	protein-coding gene	gene with protein product		605970			NA	10508838	Standard	NM_006604	NM_006604	NA	Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.816C>T	22.37:g.32756681C>T		NA	Q6IC03|Q6IC04|Q6NSX3	37	CCDS43011.1																																																																																			RFPL3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075172.3		+	ENST00000249007.4	Silent	SNP	22 : 32756681 - 32756681 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	588	105
RIMS1	22999	broad.mit.edu	37	6	72806839	72806839	+	Missense_Mutation	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:72806839G>C	ENST00000264839.7	+	3	433	c.433G>C	c.(433-435)Ggc>Cgc	p.G145R	RIMS1_ENST00000348717.5_Missense_Mutation_p.G145R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G145R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G145R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G145R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G145R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G145R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G145R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	145	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCGCTGCGGAGGCCGCGTGTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	6		NA											NA				72806839		2091	4232	6323	SO:0001583	missense			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841	NA	22999			17282	protein-coding gene	gene with protein product	Rab3-interacting molecule	606629	RAB3 interacting protein 2	RAB3IP2, CORD7	NA	9205841, 11438518	Standard		NM_001168407	NA	Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000264839.7:c.433G>C	6.37:g.72806839G>C	ENSP00000264839:p.Gly145Arg	NA	A7MBN6|O15048|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	37		.	.	.	.	.	.	.	.	.	.	G	33	5.223292	0.95139	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000007	T	0.62319	0.2418	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67003	-0.5780	10	0.87932	D	0	-14.7865	20.0804	0.97772	0.0:0.0:1.0:0.0	.	145	Q86UR5	RIMS1_HUMAN	R	145	ENSP00000430101:G145R;ENSP00000275037:G145R;ENSP00000264839:G145R;ENSP00000429959:G145R;ENSP00000430408:G145R;ENSP00000430502:G145R;ENSP00000430932:G145R;ENSP00000428417:G145R	ENSP00000264839:G145R	G	+	1	0	RIMS1	72863560	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.773000	0.98989	2.738000	0.93877	0.655000	0.94253	GGC	RIMS1-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000041173.4		+	ENST00000264839.7	Missense_Mutation	SNP	6 : 72806839 - 72806839 C PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	288	40
RIMS4	140730	broad.mit.edu	37	20	43400046	43400046	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:43400046G>A	ENST00000372851.3	-	2	172	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R37W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	36					exocytosis|neurotransmitter transport	cell junction|synapse		p.R36W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TTCAGCCTCCGGCTGTCCCCT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											55	55	55			NA	NA	20		NA											NA				43400046		2203	4300	6503	SO:0001583	missense				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098	140730	140730			16183	protein-coding gene	gene with protein product		611601	chromosome 20 open reading frame 190	C20orf190	NA	12620390	Standard	NM_182970	NM_182970	NA	Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.106C>T	20.37:g.43400046G>A	ENSP00000361942:p.Arg36Trp	NA	Q3MI44|Q5JWT7	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948065	0.73787	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.25912	1.83;1.77	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	P;D	0.63793	0.881;0.918	T	0.33929	-0.9849	10	0.87932	D	0	.	13.1683	0.59583	0.0:0.0:0.8396:0.1604	.	37;36	E1P613;Q9H426	.;RIMS4_HUMAN	W	36;37	ENSP00000361942:R36W;ENSP00000439287:R37W	ENSP00000361942:R36W	R	-	1	2	RIMS4	42833460	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.390000	0.52523	2.148000	0.66965	0.551000	0.68910	CGG	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000101027.2		-	ENST00000372851.3	Missense_Mutation	SNP	20 : 43400046 - 43400046 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	660	29
SIPA1L3	23094	broad.mit.edu	37	19	38631993	38631993	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:38631993G>A	ENST00000222345.6	+	11	3822	c.3313G>A	c.(3313-3315)Ggc>Agc	p.G1105S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1105					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACCACTCCCGGCCATGCCCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	SER/GLY	0,4406		0,0,2203	52	59	57		3313	4.5	0.9	19		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIPA1L3	NM_015073.1	56	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	1105/1782	38631993	1,13005	2203	4300	6503	SO:0001583	missense			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738	23094	23094			23801	protein-coding gene	gene with protein product					NA		Standard	XM_032278	XM_005258671	NA	Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3313G>A	19.37:g.38631993G>A	ENSP00000222345:p.Gly1105Ser	NA	Q2TV87	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693622	0.48202	0.0	1.16E-4	ENSG00000105738	ENST00000222345	T	0.75821	-0.97	4.47	4.47	0.54385	.	0.357974	0.27971	N	0.017118	T	0.60856	0.2301	L	0.40543	1.245	0.42698	D	0.993608	P	0.44776	0.843	B	0.30855	0.121	T	0.64643	-0.6359	10	0.28530	T	0.3	-39.7275	16.0823	0.81012	0.0:0.0:1.0:0.0	.	1105	O60292	SI1L3_HUMAN	S	1105	ENSP00000222345:G1105S	ENSP00000222345:G1105S	G	+	1	0	SIPA1L3	43323833	0.984000	0.35163	0.921000	0.36526	0.306000	0.27790	1.874000	0.39568	2.326000	0.78906	0.460000	0.39030	GGC	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000156294.2		+	ENST00000222345.6	Missense_Mutation	SNP	19 : 38631993 - 38631993 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	839	61
SLC13A4	26266	broad.mit.edu	37	7	135392895	135392895	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:135392895C>T	ENST00000354042.4	-	3	1021	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	111						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CAAGACCATGCGCAGAGCAAT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	91	91			NA	NA	7		NA											NA				135392895		2203	4300	6503	SO:0001583	missense			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707	26266	26266		Solute carriers	15827	protein-coding gene	gene with protein product	sulphate transporter 1	604309	solute carrier family 13 (sodium/sulphate symporters), member 4		NA	10535998	Standard	NM_012450	NM_012450	NA	Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.332G>A	7.37:g.135392895C>T	ENSP00000297282:p.Arg111His	NA	A4D1Q4|Q8N631	37	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622414	0.96660	.	.	ENSG00000164707	ENST00000354042	T	0.02974	4.09	5.07	5.07	0.68467	.	0.055341	0.64402	D	0.000001	T	0.12263	0.0298	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00182	-1.1946	10	0.87932	D	0	.	15.9821	0.80116	0.0:1.0:0.0:0.0	.	111	Q9UKG4	S13A4_HUMAN	H	111	ENSP00000297282:R111H	ENSP00000297282:R111H	R	-	2	0	SLC13A4	135043435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.688000	0.61715	2.639000	0.89480	0.561000	0.74099	CGC	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340558.1		-	ENST00000354042.4	Missense_Mutation	SNP	7 : 135392895 - 135392895 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	991	188
SLC29A4	222962	broad.mit.edu	37	7	5330780	5330780	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:5330780C>T	ENST00000396872.3	+	4	488	c.327C>T	c.(325-327)agC>agT	p.S109S	SLC29A4_ENST00000297195.4_Silent_p.S109S|SLC29A4_ENST00000406453.3_Silent_p.S109S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	NA					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TTGACATGAGCCTCACCTACA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	86	91			NA	NA	7		NA											NA				5330780		2203	4300	6503	SO:0001819	synonymous_variant			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638	222962	222962		Solute carriers	23097	protein-coding gene	gene with protein product		609149	solute carrier family 29 (nucleoside transporters), member 4		NA	12838422	Standard	NM_153247	NM_153247	NA	Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.327C>T	7.37:g.5330780C>T		NA	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	37	CCDS5340.1																																																																																			SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060118.6		+	ENST00000396872.3	Silent	SNP	7 : 5330780 - 5330780 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	389	45
SLIT1	6585	broad.mit.edu	37	10	98763971	98763971	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:98763971G>A	ENST00000266058.4	-	34	3964	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.T1240M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1240	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATCGTTGATCGTCTCAGCACT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	185	193			NA	NA	10		NA											NA				98763971		2203	4300	6503	SO:0001583	missense			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122	6585	6585			11085	protein-coding gene	gene with protein product		603742	slit (Drosophila) homolog 1	SLIL1	NA	9693030, 9813312	Standard	NM_003061	NM_003061	NA	Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3719C>T	10.37:g.98763971G>A	ENSP00000266058:p.Thr1240Met	NA	Q8WWZ2|Q9UIL7	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	8.709	0.911682	0.17833	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.78481	-1.18;-1.18	5.2	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.094139	0.64402	N	0.000001	T	0.70211	0.3198	L	0.58510	1.815	0.80722	D	1	P	0.35551	0.509	B	0.34138	0.176	T	0.63637	-0.6592	10	0.20519	T	0.43	.	10.8988	0.47038	0.152:0.0:0.848:0.0	.	1240	O75093	SLIT1_HUMAN	M	1240	ENSP00000266058:T1240M;ENSP00000360109:T1240M	ENSP00000266058:T1240M	T	-	2	0	SLIT1	98753961	1.000000	0.71417	0.946000	0.38457	0.192000	0.23643	7.783000	0.85696	0.766000	0.33244	0.655000	0.94253	ACG	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049636.1		-	ENST00000266058.4	Missense_Mutation	SNP	10 : 98763971 - 98763971 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	944	38
SPAM1	6677	broad.mit.edu	37	7	123593723	123593723	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:123593723C>T	ENST00000340011.5	+	3	456	c.99C>T	c.(97-99)tgC>tgT	p.C33C	SPAM1_ENST00000402183.2_Silent_p.C33C|SPAM1_ENST00000460182.1_Silent_p.C33C|SPAM1_ENST00000439500.1_Silent_p.C33C|SPAM1_ENST00000223028.7_Silent_p.C33C	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	33					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTCCATGTTGCTTGACTCTGA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	77	79			NA	NA	7		NA											NA				123593723		2203	4300	6503	SO:0001819	synonymous_variant			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304	NA	6677			11217	protein-coding gene	gene with protein product		600930			NA	8282124, 8575780	Standard		NM_153189	NA	Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000340011.5:c.99C>T	7.37:g.123593723C>T		NA		37	CCDS5790.1																																																																																			SPAM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348310.1		+	ENST00000340011.5	Silent	SNP	7 : 123593723 - 123593723 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	321	57
SPATA31D1	389763	broad.mit.edu	37	9	84605871	84605871	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:84605871G>A	ENST00000344803.2	+	4	533	c.486G>A	c.(484-486)tcG>tcA	p.S162S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	NA											NA						TGGCTTCTTCGGCTTCTGCGA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	120	121			NA	NA	9		NA											NA				84605871		1998	4165	6163	SO:0001819	synonymous_variant				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929	389763	389763			37283	protein-coding gene	gene with protein product			family with sequence similarity 75, member D1	FAM75D1	NA		Standard	NM_001001670	NM_001001670	NA	Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.486G>A	9.37:g.84605871G>A		NA		37	CCDS47986.1																																																																																			SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402325.1		+	ENST00000344803.2	Silent	SNP	9 : 84605871 - 84605871 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	537	92
SPEN	23013	broad.mit.edu	37	1	16264319	16264319	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:16264319G>A	ENST00000375759.3	+	13	10726	c.10522G>A	c.(10522-10524)Gtg>Atg	p.V3508M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3508	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTACCCCATCGTGTGGCAGGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	108	108			NA	NA	1		NA											NA				16264319		2203	4300	6503	SO:0001583	missense				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	23013	23013		RNA binding motif (RRM) containing	17575	protein-coding gene	gene with protein product		613484	SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila)		NA	10451362, 11331609	Standard	NM_015001	NM_015001	NA	Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10522G>A	1.37:g.16264319G>A	ENSP00000364912:p.Val3508Met	NA	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323605	0.60634	.	.	ENSG00000065526	ENST00000375759	T	0.08896	3.04	5.71	5.71	0.89125	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);	.	.	.	.	T	0.05823	0.0152	N	0.11560	0.145	0.53688	D	0.999972	P	0.44380	0.834	B	0.35655	0.207	T	0.47774	-0.9091	9	0.37606	T	0.19	-13.6961	19.8449	0.96704	0.0:0.0:1.0:0.0	.	3508	Q96T58	MINT_HUMAN	M	3508	ENSP00000364912:V3508M	ENSP00000364912:V3508M	V	+	1	0	SPEN	16136906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.544000	0.82117	2.680000	0.91292	0.655000	0.94253	GTG	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025993.1		+	ENST00000375759.3	Missense_Mutation	SNP	1 : 16264319 - 16264319 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	834	151
TAOK2	9344	broad.mit.edu	37	16	29990391	29990391	+	Splice_Site	SNP	G	G	C			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:29990391G>C	ENST00000308893.4	+	6	1492	c.449G>C	c.(448-450)aGg>aCg	p.R150T	TAOK2_ENST00000279394.3_Splice_Site_p.R150T|TAOK2_ENST00000543033.1_Splice_Site_p.R150T	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	150	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGATCCATAGGTACAAGCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	16		NA											NA				29990391		2197	4300	6497	SO:0001630	splice_region_variant			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930	9344	9344			16835	protein-coding gene	gene with protein product		613199			NA	10048485, 9786855	Standard	NM_016151	NM_016151	NA	Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.449+1G>C	16.37:g.29990391G>C		NA	A5PKY1|A7MCZ2|B2RN35|O94957|Q6UW73|Q7LC09|Q9NSW2	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991107	0.74703	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.48836	0.8;0.8;0.8	5.43	5.43	0.79202	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	0.80849	0.4702	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.87449	0.2400	9	.	.	.	.	18.3871	0.90470	0.0:0.0:1.0:0.0	.	334;150;150;150	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	T	150	ENSP00000310094:R150T;ENSP00000440336:R150T;ENSP00000279394:R150T	.	R	+	2	0	TAOK2	29897892	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.813000	0.99286	2.708000	0.92522	0.467000	0.42956	AGG	TAOK2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255152.2	Missense_Mutation	+	ENST00000308893.4	Splice_Site	SNP	16 : 29990391 - 29990391 C PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	617	127
TBCK	93627	broad.mit.edu	37	4	107168383	107168383	+	Missense_Mutation	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:107168383G>A	ENST00000273980.5	-	11	1291	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	TBCK_ENST00000432496.2_Missense_Mutation_p.P282S|TBCK_ENST00000394706.3_Missense_Mutation_p.P243S|TBCK_ENST00000361687.4_Missense_Mutation_p.P219S|TBCK_ENST00000394708.2_Missense_Mutation_p.P282S			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	NA						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TTGGTAAAGGGGGTATATAAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	90	88			NA	NA	4		NA											NA				107168383		2203	4300	6503	SO:0001583	missense				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348	93627	93627			28261	protein-coding gene	gene with protein product					NA	12471243	Standard	NM_033115	XR_427553	NA	Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.844C>T	4.37:g.107168383G>A	ENSP00000273980:p.Pro282Ser	NA	B9A6J1|Q4W5B3|Q4W5E1|Q6NUP4|Q8N7M8|Q8WW57|Q96GV6|Q9P080	37	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223662	0.22457	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.59	3.83	0.44106	Protein kinase-like domain (1);	0.142749	0.64402	D	0.000004	T	0.08133	0.0203	L	0.54323	1.7	0.43588	D	0.995939	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.13407	0.0;0.009;0.004	T	0.13872	-1.0493	10	0.12766	T	0.61	.	8.6759	0.34179	0.0709:0.0:0.657:0.2721	.	282;243;219	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	S	282;282;219;243;282	ENSP00000273980:P282S;ENSP00000405847:P282S;ENSP00000355338:P219S;ENSP00000378196:P243S;ENSP00000378198:P282S	ENSP00000273980:P282S	P	-	1	0	TBCK	107387832	1.000000	0.71417	0.060000	0.19600	0.300000	0.27592	3.203000	0.51075	1.339000	0.45563	0.563000	0.77884	CCC	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253953.4		-	ENST00000273980.5	Missense_Mutation	SNP	4 : 107168383 - 107168383 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	355	37
TP53	7157	broad.mit.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:7577118C>A	ENST00000420246.2	-	8	952	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000269305.4_Missense_Mutation_p.V274F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(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)		CAGGCACAAACACGCACCTCA	0.552		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	54	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Unknown(2)	large_intestine(9)|breast(7)|upper_aerodigestive_tract(6)|ovary(4)|prostate(4)|bone(4)|central_nervous_system(3)|urinary_tract(3)|lung(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|adrenal_gland(1)|stomach(1)|soft_tissue(1)|liver(1)											69	60	63			NA	NA	17		NA											NA				7577118		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.820G>T	17.37:g.7577118C>A	ENSP00000391127:p.Val274Phe	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	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201113	0.38905	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99832	-7.02;-7.02;-7.02;-7.02;-7.02;-7.02	4.92	-0.763	0.11030	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99670	0.9877	M	0.87456	2.885	0.38916	D	0.957632	B;D;B;B	0.56746	0.434;0.977;0.209;0.125	B;P;P;B	0.61477	0.373;0.889;0.561;0.389	D	0.99218	1.0878	10	0.87932	D	0	-10.2267	9.2232	0.37390	0.0:0.5803:0.0:0.4197	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	274;274;274;274;274;263;142	ENSP00000352610:V274F;ENSP00000269305:V274F;ENSP00000398846:V274F;ENSP00000391127:V274F;ENSP00000391478:V274F;ENSP00000425104:V142F	ENSP00000269305:V274F	V	-	1	0	TP53	7517843	0.002000	0.14202	0.148000	0.22405	0.724000	0.41520	-0.002000	0.12924	-0.004000	0.14419	0.462000	0.41574	GTT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577118 - 7577118 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	170	36
TRPC7	57113	broad.mit.edu	37	5	135692812	135692812	+	Silent	SNP	G	G	A			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:135692812G>A	ENST00000513104.1	-	2	546	c.264C>T	c.(262-264)aaC>aaT	p.N88N	TRPC7_ENST00000355180.3_Silent_p.N88N|TRPC7_ENST00000426057.2_Silent_p.N88N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	88					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTAGGTGCTCGTTGCCCACGG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	0,4402		0,0,2201	75	83	80		264,264,264	-2.3	1	5		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPC7	NM_001167576.1,NM_001167577.1,NM_020389.2	,,	0,1,6500	AA,AG,GG	NA	0.0116,0.0,0.0077	,,	88/747,88/802,88/863	135692812	1,13001	2201	4300	6501	SO:0001819	synonymous_variant			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018	57113	57113		Voltage-gated ion channels / Transient receptor potential cation channels	20754	protein-coding gene	gene with protein product					NA	11805119, 16382100	Standard	NM_020389	NM_020389	NA	Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.264C>T	5.37:g.135692812G>A		NA	A1A4Z4	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	7.441	0.640669	0.14386	0.0	1.16E-4	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.0	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.4119	11.7892	0.52059	0.7746:0.0:0.2254:0.0	.	.	.	.	X	88	.	.	R	-	1	2	TRPC7	135720711	0.995000	0.38212	0.982000	0.44146	0.975000	0.68041	0.337000	0.19841	-0.430000	0.07318	-1.075000	0.02238	CGA	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366975.1		-	ENST00000513104.1	Silent	SNP	5 : 135692812 - 135692812 A PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	546	98
TTBK2	146057	broad.mit.edu	37	15	43044234	43044234	+	Silent	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:43044234C>T	ENST00000267890.6	-	14	3318	c.3210G>A	c.(3208-3210)tcG>tcA	p.S1070S		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1070					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGAACTGAGACGAAGTTGAGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	184	181			NA	NA	15		NA											NA				43044234		2012	4173	6185	SO:0001819	synonymous_variant			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881	146057	146057			19141	protein-coding gene	gene with protein product		611695	spinocerebellar ataxia 11	SCA11	NA	10048485	Standard	NM_173500	NM_173500	NA	Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3210G>A	15.37:g.43044234C>T		NA	O94932|Q6ZN52|Q8IVV1	37	CCDS42029.1																																																																																			TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000431106.2		-	ENST00000267890.6	Silent	SNP	15 : 43044234 - 43044234 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	684	134
TTN	7273	broad.mit.edu	37	2	179594553	179594553	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:179594553C>T	ENST00000589042.1	-	63	18651	c.18427G>A	c.(18427-18429)Ggg>Agg	p.G6143R	TTN_ENST00000342992.6_Missense_Mutation_p.G4899R|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G5826R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5826	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCATTCCCGTCTAGATAC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	72	73			NA	NA	2		NA											NA				179594553		1886	4122	6008	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.18427G>A	2.37:g.179594553C>T	ENSP00000467141:p.Gly6143Arg	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882338	0.51908	.	.	ENSG00000155657	ENST00000342992	T	0.75821	-0.97	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87680	0.6238	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87329	0.2323	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5826	Q8WZ42	TITIN_HUMAN	R	4899	ENSP00000343764:G4899R	ENSP00000343764:G4899R	G	-	1	0	TTN	179302798	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	5.761000	0.68801	2.941000	0.99782	0.655000	0.94253	GGG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179594553 - 179594553 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	287	7
WDR17	116966	broad.mit.edu	37	4	177100716	177100716	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:177100716C>T	ENST00000508596.1	+	29	4090	c.3838C>T	c.(3838-3840)Ctc>Ttc	p.L1280F	WDR17_ENST00000280190.4_Missense_Mutation_p.L1319F|WDR17_ENST00000507824.2_Missense_Mutation_p.L1294F|WDR17_ENST00000393643.2_Missense_Mutation_p.L1295F	NM_181265.3	NP_851782.3	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1319										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGAATACGACTCAATCCATT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	129	133			NA	NA	4		NA											NA				177100716		2203	4300	6503	SO:0001583	missense			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627	116966	116966		WD repeat domain containing	16661	protein-coding gene	gene with protein product		609005			NA	12401215	Standard		NM_170710	NA	Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000508596.1:c.3838C>T	4.37:g.177100716C>T	ENSP00000422763:p.Leu1280Phe	NA		37	CCDS43284.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.111338|4.111338	0.77210|0.77210	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.63096|.	-0.01;0.04;-0.02|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.072960|.	0.56097|.	D|.	0.000031|.	T|T	0.76485|0.76485	0.3994|0.3994	M|M	0.70595|0.70595	2.14|2.14	0.52099|0.52099	D|D	0.999941|0.999941	D;D;D|.	0.65815|.	0.986;0.995;0.995|.	P;P;P|.	0.56700|.	0.717;0.804;0.804|.	T|T	0.74334|0.74334	-0.3699|-0.3699	10|5	0.66056|.	D|.	0.02|.	-12.7112|-12.7112	19.8379|19.8379	0.96666|0.96666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1295;1280;1319|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	F|I	1280;1295;1319;1295|553	ENSP00000422763:L1280F;ENSP00000377258:L1295F;ENSP00000280190:L1319F|.	ENSP00000280190:L1319F|.	L|T	+|+	1|2	0|0	WDR17|WDR17	177337710|177337710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.734000|4.734000	0.62043|0.62043	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	CTC|ACT	WDR17-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362335.1		+	ENST00000508596.1	Missense_Mutation	SNP	4 : 177100716 - 177100716 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	559	83
ZSWIM2	151112	broad.mit.edu	37	2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:187698677C>T	ENST00000295131.2	-	6	863	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363		NA											C	1	5e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123	107	112		824	5.8	1	2		112	0,8600		0,0,4300	no	missense	ZSWIM2	NM_182521.2	29	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging	275/634	187698677	1,13005	2203	4300	6503	SO:0001583	missense			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012	151112	151112		Zinc fingers, SWIM-type, Zinc fingers, ZZ-type	30990	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_182521	NM_182521	NA	Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.824G>A	2.37:g.187698677C>T	ENSP00000295131:p.Arg275His	NA	B3KXV6|Q53SI3|Q57ZY3	37	CCDS33348.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.35	3.366207	0.61513	2.27E-4	0.0	ENSG00000163012	ENST00000295131	D	0.87650	-2.28	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000044	D	0.91287	0.7253	L	0.47190	1.495	0.47374	D	0.999403	D	0.89917	1.0	D	0.74023	0.982	D	0.91766	0.5424	10	0.87932	D	0	-19.6714	16.9191	0.86159	0.0:1.0:0.0:0.0	.	275	Q8NEG5	ZSWM2_HUMAN	H	275	ENSP00000295131:R275H	ENSP00000295131:R275H	R	-	2	0	ZSWIM2	187406922	0.998000	0.40836	0.997000	0.53966	0.106000	0.19336	4.940000	0.63533	2.722000	0.93159	0.467000	0.42956	CGT	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334565.1		-	ENST00000295131.2	Missense_Mutation	SNP	2 : 187698677 - 187698677 T PAAD-TCGA-M8-A5N4-Tumor-SM-47KKI	266	27
