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
ACHE	43	broad.mit.edu	37	7	100491685	100491685	+	Missense_Mutation	SNP	C	C	T	rs17234982	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:100491685C>T	ENST00000302913.4	-	2	307	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	ACHE_ENST00000411582.1_Missense_Mutation_p.G57R|ACHE_ENST00000241069.5_Missense_Mutation_p.G57R|ACHE_ENST00000419336.2_Missense_Mutation_p.G57R|ACHE_ENST00000428317.1_Missense_Mutation_p.G57R|ACHE_ENST00000412389.1_Missense_Mutation_p.G57R	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	57					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ACAGGGCCCCCGGGGGTCTTC	0.701		NA											c	3	0.0014	0.0041	NA	2184	0.0017	0.9989	,	,	NA	6e-04	NA	NA	NA	0.0017	0.7544	EXOME	NA	NA	4e-04	SNP								NA				0								C	ARG/GLY,ARG/GLY	0,4402		0,0,2201	19	24	22		169,169	4	0	7	dbSNP_123	22	2,8586		0,2,4292	yes	missense,missense	ACHE	NM_000665.3,NM_015831.2	125,125	0,2,6493	TT,TC,CC	NA	0.0233,0.0,0.0154	benign,benign	57/615,57/618	100491685	2,12988	2201	4294	6495	SO:0001583	missense				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	43	43	3.1.1.7	Blood group antigens	108	protein-coding gene	gene with protein product	Yt blood group	100740	acetylcholinesterase (YT blood group), acetylcholinesterase (Yt blood group), acetylcholinesterase	YT	NA	1380483	Standard	NM_015831	XM_005250357	NA	Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000302913.4:c.169G>A	7.37:g.100491685C>T	ENSP00000303211:p.Gly57Arg	NA	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	37	CCDS5710.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	c	9.302	1.053449	0.19907	0.0	2.33E-4	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	T;T;T;T;T;T;T;T;T	0.67865	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;-0.29	4.85	3.97	0.46021	Carboxylesterase, type B (1);	0.245457	0.40222	N	0.001147	T	0.57902	0.2085	M	0.63169	1.94	0.34490	D	0.704821	B;B;B;B	0.28552	0.02;0.215;0.028;0.002	B;B;B;B	0.17433	0.004;0.018;0.004;0.003	T	0.66400	-0.5933	10	0.66056	D	0.02	.	6.5296	0.22320	0.1779:0.7276:0.0:0.0944	rs17234982	57;57;57;57	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	R	57	ENSP00000403474:G57R;ENSP00000241069:G57R;ENSP00000414858:G57R;ENSP00000303211:G57R;ENSP00000394976:G57R;ENSP00000397143:G57R;ENSP00000399725:G57R;ENSP00000404865:G57R;ENSP00000396360:G57R	ENSP00000241069:G57R	G	-	1	0	ACHE	100329621	0.005000	0.15991	0.042000	0.18584	0.166000	0.22503	0.103000	0.15292	1.162000	0.42619	0.556000	0.70494	GGG	ACHE-201	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347191.1		-	ENST00000302913.4	Missense_Mutation	SNP	7 : 100491685 - 100491685 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	103	20
ADAM30	11085	broad.mit.edu	37	1	120436918	120436918	+	Missense_Mutation	SNP	G	G	A	rs115551394	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:120436918G>A	ENST00000369400.1	-	1	2200	c.2042C>T	c.(2041-2043)gCg>gTg	p.A681V		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	681					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CGAGGGAATCGCCCCTCTGAG	0.473		NA											G	4	0.0018	0.002	0.01	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0018	1	LOWCOV,EXOME	NA	NA	0.0021	SNP								NA				0								G	VAL/ALA	24,4382	30.8+/-60.4	0,24,2179	64	64	64		2042	-5.8	0	1	dbSNP_133	64	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ADAM30	NM_021794.3	64	0,32,6471	AA,AG,GG	NA	0.093,0.5447,0.246	benign	681/791	120436918	32,12974	2203	4300	6503	SO:0001583	missense			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249	11085	11085		ADAM metallopeptidase domain containing	208	protein-coding gene	gene with protein product		604779	a disintegrin and metalloproteinase domain 30		NA		Standard	NM_021794	NM_021794	NA	Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2042C>T	1.37:g.120436918G>A	ENSP00000358407:p.Ala681Val	NA	A8K8W8|Q5T3X6|Q9UKF1	37	CCDS907.1	4	0.0018315018315018315	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	0	0.0	G	8.508	0.865747	0.17250	0.005447	9.3E-4	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01178	5.22	5.05	-5.85	0.02311	.	0.692560	0.11763	U	0.531905	T	0.00144	0.0004	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41787	-0.9489	10	0.29301	T	0.29	.	0.2119	0.00157	0.2303:0.2226:0.2471:0.3	.	681	Q9UKF2	ADA30_HUMAN	V	681	ENSP00000358407:A681V	ENSP00000358407:A681V	A	-	2	0	ADAM30	120238441	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.486000	0.06513	-1.165000	0.02786	-2.744000	0.00126	GCG	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033678.1		-	ENST00000369400.1	Missense_Mutation	SNP	1 : 120436918 - 120436918 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	336	65
ADCY1	107	broad.mit.edu	37	7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:45688285G>A	ENST00000432715.1	+	6	741	c.362G>A	c.(361-363)cGc>cAc	p.R121H	ADCY1_ENST00000297323.7_Missense_Mutation_p.R346H	NM_001281768.1	NP_001268697.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACTGTCGCCGCATCAAGATT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	87	92			NA	NA	7		NA											NA				45688285		2203	4300	6503	SO:0001583	missense			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	107	107	4.6.1.1	Adenylate cyclases	232	protein-coding gene	gene with protein product		103072			NA	8314585	Standard	NM_021116	NM_021116	NA	Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000432715.1:c.362G>A	7.37:g.45688285G>A	ENSP00000392721:p.Arg121His	NA	A4D2L8|Q75MI1	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.673952	0.88445	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.81579	-1.51;-1.51	3.91	3.91	0.45181	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.94103	0.7364	10	0.87932	D	0	.	13.4729	0.61290	0.0:0.0:1.0:0.0	.	346;121	Q08828;C9J1J0	ADCY1_HUMAN;.	H	121;346;346	ENSP00000392721:R121H;ENSP00000297323:R346H	ENSP00000297323:R346H	R	+	2	0	ADCY1	45654810	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	8.906000	0.92626	2.028000	0.59812	0.561000	0.74099	CGC	ADCY1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000340056.1		+	ENST00000432715.1	Missense_Mutation	SNP	7 : 45688285 - 45688285 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	173	5
AFF3	3899	broad.mit.edu	37	2	100210257	100210257	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:100210257C>T	ENST00000409236.2	-	13	1978	c.1866G>A	c.(1864-1866)ccG>ccA	p.P622P	AFF3_ENST00000409579.1_Silent_p.P647P|AFF3_ENST00000356421.2_Silent_p.P647P|AFF3_ENST00000317233.4_Silent_p.P622P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGTGGGCTCCGGGGGGACCA	0.736		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	31	29			NA	NA	2		NA											NA				100210257		2203	4294	6497	SO:0001819	synonymous_variant			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	3899	3899			6473	protein-coding gene	gene with protein product		601464	lymphoid nuclear protein related to AF4	LAF4	NA	8662235, 8555498	Standard	NM_002285	XM_005263945	NA	Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1866G>A	2.37:g.100210257C>T		NA	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	37	CCDS42723.1																																																																																			AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000328982.3		-	ENST00000409236.2	Silent	SNP	2 : 100210257 - 100210257 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	210	11
AMER1	139285	broad.mit.edu	37	X	63410676	63410676	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:63410676C>T	ENST00000330258.3	-	2	2763	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1	NA								p.0?(67)			NA						AGATCTTCATCATTGTGGAAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											41	41	41			NA	NA	X		NA											NA				63410676		2195	4287	6482	SO:0001583	missense			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675	139285	139285		-	26837	protein-coding gene	gene with protein product	Wilms Tumor on the X, adenomatous polyposis coli membrane recruitment 1	300647	family with sequence similarity 123B	FAM123B	NA	21304492, 21498506, 20843316	Standard	NM_152424	NM_152424	NA	Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2491G>A	X.37:g.63410676C>T	ENSP00000329117:p.Asp831Asn	NA		37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009117	0.35415	.	.	ENSG00000184675	ENST00000330258	T	0.56776	0.44	5.0	4.14	0.48551	.	.	.	.	.	T	0.33352	0.0860	N	0.14661	0.345	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	T	0.08472	-1.0720	8	.	.	.	-4.2875	11.4705	0.50266	0.0:0.9102:0.0:0.0898	.	831	Q5JTC6	F123B_HUMAN	N	831	ENSP00000329117:D831N	.	D	-	1	0	FAM123B	63327401	0.999000	0.42202	0.989000	0.46669	0.897000	0.52465	5.204000	0.65180	1.247000	0.43917	0.529000	0.55759	GAT	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316584.1		-	ENST00000330258.3	Missense_Mutation	SNP	X : 63410676 - 63410676 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	104	36
AMOT	154796	broad.mit.edu	37	X	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:112048243G>A	ENST00000304758.1	-	6	1276	c.481C>T	c.(481-483)Cga>Tga	p.R161*	AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.R570*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*	NM_133265.2	NP_573572.1	Q4VCS5	AMOT_HUMAN	angiomotin	570					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGATGTGTCGTCTTTGGTCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													282	234	250			NA	NA	X		NA											NA				112048243		2203	4300	6503	SO:0001587	stop_gained			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016	154796	154796			17810	protein-coding gene	gene with protein product		300410			NA	11257124, 16043488, 12406577	Standard	NM_133265	NM_001113490	NA	Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000304758.1:c.481C>T	X.37:g.112048243G>A	ENSP00000305557:p.Arg161*	NA	Q504X5|Q9HD27|Q9UPT1	37	CCDS14563.1	.	.	.	.	.	.	.	.	.	.	g	39	7.434134	0.98282	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.96	4.17	0.49024	.	0.054811	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5027	12.9983	0.58660	0.0:0.0:0.4395:0.5605	.	.	.	.	X	161;570;338;570;338	.	ENSP00000305557:R161X	R	-	1	2	AMOT	111934899	0.999000	0.42202	0.985000	0.45067	0.996000	0.88848	2.872000	0.48467	0.623000	0.30267	0.597000	0.82753	CGA	AMOT-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057950.1		-	ENST00000304758.1	Nonsense_Mutation	SNP	X : 112048243 - 112048243 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	1016	186
ANKRD11	29123	broad.mit.edu	37	16	89347349	89347349	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:89347349G>A	ENST00000301030.4	-	9	6061	c.5601C>T	c.(5599-5601)tgC>tgT	p.C1867C	ANKRD11_ENST00000378330.2_Silent_p.C1867C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1867	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCCGGTGGGCAGTGCAAAG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	16		NA											NA				89347349		2198	4300	6498	SO:0001819	synonymous_variant			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522	29123	29123		Ankyrin repeat domain containing	21316	protein-coding gene	gene with protein product		611192			NA	11483580	Standard	NM_013275	NM_001256182	NA	Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5601C>T	16.37:g.89347349G>A		NA	Q6NTG1|Q6QMF8	37	CCDS32513.1																																																																																			ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000430462.3		-	ENST00000301030.4	Silent	SNP	16 : 89347349 - 89347349 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	272	24
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:157488191G>A	ENST00000346085.5	+	10	2898	c.2897G>A	c.(2896-2898)gGc>gAc	p.G966D	ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													215	206	209			NA	NA	6		NA											NA				157488191		2203	4296	6499	SO:0001583	missense			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618	57492	57492		-	18040	protein-coding gene	gene with protein product		614556			NA		Standard	NM_020732	NM_017519	NA	Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000346085.5:c.2897G>A	6.37:g.157488191G>A	ENSP00000344546:p.Gly966Asp	NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901677	0.52227	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25250	4.67;4.65;4.75;4.74;4.44;2.16;1.81	5.64	4.72	0.59763	.	0.204799	0.51477	D	0.000092	T	0.10121	0.0248	N	0.22421	0.69	0.44668	D	0.997656	P;P;P;P	0.49783	0.928;0.791;0.763;0.879	B;B;B;P	0.44897	0.44;0.196;0.387;0.463	T	0.04140	-1.0974	10	0.28530	T	0.3	.	10.2908	0.43594	0.0:0.1331:0.6468:0.22	.	203;953;966;895	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	D	966;953;953;895;370;422;375;20	ENSP00000344546:G966D;ENSP00000055163:G953D;ENSP00000356116:G953D;ENSP00000275248:G895D;ENSP00000412835:G422D;ENSP00000313006:G375D;ENSP00000383596:G20D	ENSP00000275248:G895D	G	+	2	0	ARID1B	157529883	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	2.809000	0.47971	2.657000	0.90304	0.655000	0.94253	GGC	ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Missense_Mutation	SNP	6 : 157488191 - 157488191 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	910	6
ATP11B	23200	broad.mit.edu	37	3	182591715	182591715	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:182591715C>T	ENST00000323116.5	+	19	2424	c.2164C>T	c.(2164-2166)Cat>Tat	p.H722Y		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	722					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCATGTGGCCATTTTCATAG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	100	105			NA	NA	3		NA											NA				182591715		2203	4300	6503	SO:0001583	missense			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063	23200	23200		ATPases / P-type	13553	protein-coding gene	gene with protein product		605869	ATPase, Class VI, type 11B		NA	10231032, 11015572	Standard	NM_014616	NM_014616	NA	Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2164C>T	3.37:g.182591715C>T	ENSP00000321195:p.His722Tyr	NA	Q96FN1|Q9UKK7	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883120	0.91740	.	.	ENSG00000058063	ENST00000323116	T	0.62639	0.01	5.78	5.78	0.91487	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.985	D	0.86566	0.1844	10	0.87932	D	0	.	19.9991	0.97403	0.0:1.0:0.0:0.0	.	296;722	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	Y	722	ENSP00000321195:H722Y	ENSP00000321195:H722Y	H	+	1	0	ATP11B	184074409	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.440000	0.80464	2.724000	0.93272	0.655000	0.94253	CAT	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350598.1		+	ENST00000323116.5	Missense_Mutation	SNP	3 : 182591715 - 182591715 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	377	61
ATP1A3	478	broad.mit.edu	37	19	42471441	42471441	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:42471441G>A	ENST00000545399.1	-	22	3165	c.3012C>T	c.(3010-3012)taC>taT	p.Y1004Y	ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y|ATP1A3_ENST00000302102.5_Silent_p.Y991Y	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATTTCGTCGTAGACGAAGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	41	41	41		2973	-3.5	0.9	19		41	0,8600		0,0,4300	no	coding-synonymous	ATP1A3	NM_152296.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		991/1014	42471441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	478	478	3.6.3.9	ATPases / P-type	801	protein-coding gene	gene with protein product	sodium/potassium-transporting ATPase subunit alpha-3, sodium pump subunit alpha-3, sodium-potassium ATPase catalytic subunit alpha-3	182350	dystonia 12	DYT12	NA	17282997	Standard	NM_152296	NM_152296	NA	Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000545399.1:c.3012C>T	19.37:g.42471441G>A		NA	Q16732|Q16735|Q969K5	37	CCDS58664.1																																																																																			ATP1A3-008	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268114.2		-	ENST00000545399.1	Silent	SNP	19 : 42471441 - 42471441 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	222	43
ATP2B2	491	broad.mit.edu	37	3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:10452358G>A	ENST00000397077.1	-	5	916	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A114V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	114					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGGCGGCAATCTCCAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(125;1619 1709 15675 19819 38835)							NA				0													177	185	182			NA	NA	3		NA											NA				10452358		2203	4300	6503	SO:0001583	missense			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	491	491	3.6.3.8	ATPases / P-type	815	protein-coding gene	gene with protein product	plasma membrane Ca2+ pump 2, plasma membrane calcium-transporting ATPase 2	108733			NA	1313367	Standard	NM_001683	NM_001001331	NA	Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000397077.1:c.341C>T	3.37:g.10452358G>A	ENSP00000380267:p.Ala114Val	NA	O00766|Q12994|Q16818	37	CCDS2601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774816	0.96922	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.94931	-1.87;-1.87;-1.87;-1.87;-1.87;-3.56	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.999;0.986;0.997	D;P;D	0.81914	0.995;0.897;0.947	D	0.98630	1.0671	10	0.87932	D	0	-37.8211	19.7543	0.96284	0.0:0.0:1.0:0.0	.	114;126;114	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	114;114;114;114;114;80;1;114	ENSP00000324172:A114V;ENSP00000373311:A114V;ENSP00000380267:A114V;ENSP00000353414:A114V;ENSP00000344677:A114V;ENSP00000414854:A1V	ENSP00000342954:A114V	A	-	2	0	ATP2B2	10427358	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.869000	0.99810	2.680000	0.91292	0.561000	0.74099	GCC	ATP2B2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276089.2		-	ENST00000397077.1	Missense_Mutation	SNP	3 : 10452358 - 10452358 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	939	7
C1RL	51279	broad.mit.edu	37	12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:7254566G>A	ENST00000545280.1	-	2	172				C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000544702.1_Missense_Mutation_p.R140C|C1RL_ENST00000266542.4_Missense_Mutation_p.R140C			Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	NA					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCTGTGTGCGGAAGGTCAGC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	108	111			NA	NA	12		NA											NA				7254566		2203	4300	6503	SO:0001627	intron_variant			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178	51279	51279			21265	protein-coding gene	gene with protein product		608974			NA	12838346	Standard	NM_016546	XM_005253385	NA	Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000545280.1:c.155+33C>T	12.37:g.7254566G>A		NA	Q53GX9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.842|5.842	0.339585|0.339585	0.11069|0.11069	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.30448	.|1.53;1.53;1.53;1.53	3.76|3.76	-0.133|-0.133	0.13485|0.13485	.|CUB (5);	.|1.399260	.|0.04433	.|N	.|0.369511	T|T	0.35799|0.35799	0.0944|0.0944	M|M	0.88640|0.88640	2.97|2.97	0.24098|0.24098	N|N	0.995883|0.995883	.|B;B;B	.|0.33919	.|0.432;0.038;0.285	.|B;B;B	.|0.27887	.|0.051;0.007;0.084	T|T	0.30268|0.30268	-0.9984|-0.9984	5|10	.|0.45353	.|T	.|0.12	.|.	3.3529|3.3529	0.07159|0.07159	0.2989:0.0:0.5228:0.1783|0.2989:0.0:0.5228:0.1783	.|.	.|140;140;140	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	L|C	39|140	.|ENSP00000266542:R140C;ENSP00000441885:R140C;ENSP00000437398:R140C;ENSP00000442611:R140C	.|ENSP00000266542:R140C	P|R	-|-	2|1	0|0	C1RL|C1RL	7145842|7145842	0.147000|0.147000	0.22687|0.22687	0.103000|0.103000	0.21229|0.21229	0.289000|0.289000	0.27227|0.27227	0.193000|0.193000	0.17116|0.17116	-0.034000|-0.034000	0.13713|0.13713	-1.529000|-1.529000	0.00923|0.00923	CCG|CGC	C1RL-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398366.1		-	ENST00000545280.1	Intron	SNP	12 : 7254566 - 7254566 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	786	7
CACNA1D	776	broad.mit.edu	37	3	53810001	53810001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:53810001G>T	ENST00000422281.2	+	34	4246	c.4246G>T	c.(4246-4248)Gag>Tag	p.E1416*	CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1431*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.E1451*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.E323*	NM_001128839.1	NP_001122311.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1431					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAACCCCGGGGAGGAGTATAC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	184	181			NA	NA	3		NA											NA				53810001		2203	4300	6503	SO:0001587	stop_gained			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388	776	776		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2	NA	1664412	Standard	NM_000720	NM_000720	NA	Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000422281.2:c.4246G>T	3.37:g.53810001G>T	ENSP00000409174:p.Glu1416*	NA	Q13916|Q13931|Q9UDC3	37	CCDS46849.1	.	.	.	.	.	.	.	.	.	.	G	45	11.508490	0.99570	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	.	.	.	5.06	5.06	0.68205	.	0.136428	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.6072	0.91271	0.0:0.0:1.0:0.0	.	.	.	.	X	1431;1451;1416;1124;323	.	ENSP00000288139:E1451X	E	+	1	0	CACNA1D	53785041	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.657000	0.98554	2.624000	0.88883	0.650000	0.86243	GAG	CACNA1D-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350556.1		+	ENST00000422281.2	Nonsense_Mutation	SNP	3 : 53810001 - 53810001 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	554	23
CAPN3	825	broad.mit.edu	37	15	42695097	42695097	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:42695097C>T	ENST00000397163.3	+	13	1861	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	CAPN3_ENST00000349748.3_Missense_Mutation_p.R500C|CAPN3_ENST00000356316.3_Missense_Mutation_p.R461C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R548C|CAPN3_ENST00000318023.7_Missense_Mutation_p.R548C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.R36C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	548	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCGCTTCCGCCTGCCTCC	0.592		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,CYS/ARG,CYS/ARG	0,4406		0,0,2203	120	99	106		1642,1642,1498,106	4.9	1	15		106	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1,NM_173088.1	180,180,180,180	0,1,6501	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign,benign,benign	548/822,548/816,500/730,36/310	42695097	1,13003	2203	4299	6502	SO:0001583	missense			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	825	825	3.4.22.52	EF-hand domain containing	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A	NA	2555341, 7720071	Standard		NM_024344	NA	Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1642C>T	15.37:g.42695097C>T	ENSP00000380349:p.Arg548Cys	NA	A6H8K6|Q9BTU4|Q9Y5S6|Q9Y5S7	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987438	0.74589	0.0	1.16E-4	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.82481	0.5046	L	0.38649	1.16	0.80722	D	1	B;B;B;B;B;B	0.33857	0.102;0.208;0.083;0.206;0.429;0.053	B;B;B;B;B;B	0.31290	0.031;0.077;0.018;0.032;0.127;0.075	T	0.82752	-0.0302	10	0.49607	T	0.09	.	18.1939	0.89814	0.0:1.0:0.0:0.0	.	413;461;500;548;548;461	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	C	461;36;548;548;500;548;36	ENSP00000348667:R461C;ENSP00000380349:R548C;ENSP00000350181:R548C;ENSP00000183936:R500C;ENSP00000326281:R548C;ENSP00000380384:R36C	ENSP00000326281:R548C	R	+	1	0	CAPN3	40482389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.733000	0.68571	2.527000	0.85204	0.455000	0.32223	CGC	CAPN3-009	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421075.1		+	ENST00000397163.3	Missense_Mutation	SNP	15 : 42695097 - 42695097 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	571	90
CASKIN1	57524	broad.mit.edu	37	16	2228602	2228602	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:2228602G>A	ENST00000343516.6	-	20	4337	c.4245C>T	c.(4243-4245)atC>atT	p.I1415I		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1415					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ACATGCTGCCGATGTCGTCCA	0.741		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	28	26			NA	NA	16		NA											NA				2228602		2147	4267	6414	SO:0001819	synonymous_variant			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971	57524	57524		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20879	protein-coding gene	gene with protein product		612184			NA	12040031	Standard	NM_020764	NM_020764	NA	Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.4245C>T	16.37:g.2228602G>A		NA	Q9P2P0	37	CCDS42103.1																																																																																			CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000435055.1		-	ENST00000343516.6	Silent	SNP	16 : 2228602 - 2228602 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	195	16
CD72	971	broad.mit.edu	37	9	35616044	35616044	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:35616044G>A	ENST00000396757.1	-	6	748	c.584C>T	c.(583-585)aCg>aTg	p.T195M	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.T195M			P21854	CD72_HUMAN	CD72 molecule	195					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCTCCTTCGTCTTCTGTCT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	182	192			NA	NA	9		NA											NA				35616044		2203	4300	6503	SO:0001583	missense				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101	971	971		CD molecules	1696	protein-coding gene	gene with protein product		107272	CD72 antigen		NA	2044654, 1711157	Standard	NM_001782	NM_001782	NA	Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.584C>T	9.37:g.35616044G>A	ENSP00000379980:p.Thr195Met	NA		37	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709706	0.48517	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.61627	0.09;0.09	5.14	2.28	0.28536	.	0.467428	0.19886	N	0.103850	T	0.68357	0.2992	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	T	0.56511	-0.7967	10	0.59425	D	0.04	-5.2731	6.2975	0.21095	0.3715:0.0:0.6285:0.0	.	195;195	Q5TLG3;P21854	.;CD72_HUMAN	M	195	ENSP00000379980:T195M;ENSP00000259633:T195M	ENSP00000259633:T195M	T	-	2	0	CD72	35606044	0.001000	0.12720	0.056000	0.19401	0.029000	0.11900	0.385000	0.20685	0.569000	0.29329	0.491000	0.48974	ACG	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052336.1		-	ENST00000396757.1	Missense_Mutation	SNP	9 : 35616044 - 35616044 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	485	5
CHST14	113189	broad.mit.edu	37	15	40764233	40764233	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:40764233G>A	ENST00000306243.5	+	1	1074	c.821G>A	c.(820-822)cGc>cAc	p.R274H	CHST14_ENST00000559991.1_Missense_Mutation_p.R249H	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	274					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GACCCTGAGCGCATGAATGAG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	130	129			NA	NA	15		NA											NA				40764233		2203	4300	6503	SO:0001583	missense			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105	113189	113189		Sulfotransferases, membrane-bound	24464	protein-coding gene	gene with protein product		608429	dermatan 4 sulfotransferase 1	D4ST1	NA	11470797	Standard	NM_130468	NM_130468	NA	Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.821G>A	15.37:g.40764233G>A	ENSP00000307297:p.Arg274His	NA	Q6PJ31|Q6UXA0|Q96P94	37	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769808	0.49680	.	.	ENSG00000169105	ENST00000306243	T	0.75260	-0.92	4.92	3.02	0.34903	.	0.133960	0.44097	N	0.000487	T	0.61714	0.2369	L	0.40543	1.245	0.43403	D	0.995531	B	0.09022	0.002	B	0.08055	0.003	T	0.52859	-0.8519	10	0.28530	T	0.3	-11.2791	8.6952	0.34291	0.1901:0.0:0.8099:0.0	.	274	Q8NCH0	CHSTE_HUMAN	H	274	ENSP00000307297:R274H	ENSP00000307297:R274H	R	+	2	0	CHST14	38551525	0.991000	0.36638	0.986000	0.45419	0.982000	0.71751	1.809000	0.38922	0.650000	0.30769	0.655000	0.94253	CGC	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252251.1		+	ENST00000306243.5	Missense_Mutation	SNP	15 : 40764233 - 40764233 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	505	5
CIRH1A	84916	broad.mit.edu	37	16	69197063	69197063	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:69197063C>T	ENST00000563094.1	+	14	1663	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	CIRH1A_ENST00000314423.7_Silent_p.I543I|CIRH1A_ENST00000352319.4_Silent_p.I428I			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	543						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACCTTGTCATCGCTCATTCGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(69;1156 1278 4951 8715 52012)							NA				0													218	187	198			NA	NA	16		NA											NA				69197063		2198	4300	6498	SO:0001819	synonymous_variant			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076	84916	84916		WD repeat domain containing	1983	protein-coding gene	gene with protein product	UTP4, small subunit (SSU) processome component, homolog (yeast)	607456			NA	10820129, 20385600	Standard	NM_032830	NM_032830	NA	Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000563094.1:c.1629C>T	16.37:g.69197063C>T		NA	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	37																																																																																				CIRH1A-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000433342.1		+	ENST00000563094.1	Silent	SNP	16 : 69197063 - 69197063 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	688	62
CLSTN2	64084	broad.mit.edu	37	3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	rs137889465		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCACCTTCGCCAAAACCGA	0.532		NA								HNSCC(16;0.037)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(45;858 913 3709 36904 37282)							NA				1	Substitution - Missense(1)	large_intestine(1)						G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	48	50	49		2005	2.5	0	3	dbSNP_134	49	0,8600		0,0,4300	no	missense	CLSTN2	NM_022131.2	58	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	benign	669/956	140277663	2,13004	2203	4300	6503	SO:0001583	missense			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258	64084	64084		Cadherins / Cadherin-related	17448	protein-coding gene	gene with protein product	cadherin-related family member 13	611323			NA	12498782	Standard	NM_022131	NM_022131	NA	Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2005G>A	3.37:g.140277663G>A	ENSP00000402460:p.Ala669Thr	NA	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.341445	0.01277	4.54E-4	0.0	ENSG00000158258	ENST00000458420	T	0.29397	1.57	5.41	2.5	0.30297	.	0.215482	0.46442	N	0.000281	T	0.08802	0.0218	N	0.01219	-0.95	0.23376	N	0.9978	B	0.09022	0.002	B	0.04013	0.001	T	0.33163	-0.9879	9	.	.	.	-0.0386	6.6275	0.22839	0.3845:0.0:0.6155:0.0	.	669	Q9H4D0	CSTN2_HUMAN	T	669	ENSP00000402460:A669T	.	A	+	1	0	CLSTN2	141760353	0.921000	0.31238	0.031000	0.17742	0.075000	0.17131	2.120000	0.41968	0.587000	0.29643	0.650000	0.86243	GCC	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359393.3		+	ENST00000458420.3	Missense_Mutation	SNP	3 : 140277663 - 140277663 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	278	50
COL11A2	1302	broad.mit.edu	37	6	33143391	33143391	+	Missense_Mutation	SNP	G	G	A	rs150877886	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:33143391G>A	ENST00000374708.4	-	28	2336	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	COL11A2_ENST00000374714.1_Missense_Mutation_p.P753L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P698L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P672L|COL11A2_ENST00000341947.2_Missense_Mutation_p.P779L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P758L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P719L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P732L|COL11A2_ENST00000477772.1_Intron	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	779	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCTCCAGTCGGTCCAGTGCG	0.647		NA											G	1	5e-04	NA	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.8415	LOWCOV	NA	NA	7e-04	SNP	Melanoma(1;90 116 3946 5341 17093)							NA				0								G	LEU/PRO,LEU/PRO,LEU/PRO	2,3018		0,2,1508	108	93	98		2015,2336,2078	3.4	1	6	dbSNP_134	98	10,5408		0,10,2699	yes	missense,missense,missense	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	98,98,98	0,12,4207	AA,AG,GG	NA	0.1846,0.0662,0.1422	probably-damaging,probably-damaging,probably-damaging	672/1630,779/1737,693/1651	33143391	12,8426	1510	2709	4219	SO:0001583	missense			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248	1302	1302		Collagens	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53	NA	7559422, 10581026	Standard		NM_080679	NA	Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2078C>T	6.37:g.33143391G>A	ENSP00000363840:p.Pro693Leu	NA	Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q99866|Q9UIP9	37	CCDS43452.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.05	2.418368	0.42918	6.62E-4	0.001846	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	4.3	3.44	0.39384	.	0.067235	0.64402	D	0.000012	D	0.83936	0.5362	L	0.37466	1.105	0.80722	D	1	P;P;P	0.50443	0.87;0.758;0.935	B;B;B	0.43867	0.434;0.307;0.334	T	0.81760	-0.0785	10	0.26408	T	0.33	.	10.4953	0.44775	0.0961:0.0:0.9039:0.0	.	672;693;779	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	L	693;779;758;753;732;719;698;672	ENSP00000363840:P693L;ENSP00000339915:P779L;ENSP00000350079:P758L;ENSP00000363846:P753L;ENSP00000363845:P732L;ENSP00000378623:P719L;ENSP00000363844:P698L;ENSP00000355123:P672L	ENSP00000339915:P779L	P	-	2	0	COL11A2	33251369	0.999000	0.42202	0.992000	0.48379	0.889000	0.51656	3.017000	0.49615	1.201000	0.43203	-0.350000	0.07774	CCG	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076032.2		-	ENST00000374708.4	Missense_Mutation	SNP	6 : 33143391 - 33143391 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	259	60
COL28A1	340267	broad.mit.edu	37	7	7570984	7570984	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:7570984G>A	ENST00000399429.3	-	3	816	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	226	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTACCAGACGATCTTGAATT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	61	64			NA	NA	7		NA											NA				7570984		1841	4088	5929	SO:0001583	missense			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018	340267	340267		Collagens	22442	protein-coding gene	gene with protein product		609996			NA	16330543	Standard	NM_001037763	NM_001037763	NA	Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.676C>T	7.37:g.7570984G>A	ENSP00000382356:p.Arg226Cys	NA	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239447	0.22711	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	T	0.55760	0.5	3.88	3.88	0.44766	von Willebrand factor, type A (2);	0.303428	0.24176	U	0.040860	T	0.43366	0.1244	N	0.08118	0	0.18873	N	0.999983	D	0.64830	0.994	P	0.54965	0.765	T	0.30592	-0.9973	10	0.59425	D	0.04	-0.8455	10.5423	0.45039	0.0:0.0:0.8065:0.1935	.	226	Q2UY09	COSA1_HUMAN	C	226	ENSP00000382356:R226C	ENSP00000382347:R226C	R	-	1	0	COL28A1	7537509	0.326000	0.24669	0.825000	0.32803	0.038000	0.13279	0.862000	0.27899	2.183000	0.69458	0.655000	0.94253	CGT	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315899.1		-	ENST00000399429.3	Missense_Mutation	SNP	7 : 7570984 - 7570984 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	294	45
CREBBP	1387	broad.mit.edu	37	16	3823809	3823809	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:3823809G>A	ENST00000262367.5	-	13	3215	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	CREBBP_ENST00000382070.3_Silent_p.S764S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	802					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGCCCCGCTGGATGACGGGA	0.607		NA	T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL 		Rubinstein-Taybi syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													50	53	52			NA	NA	16		NA											NA				3823809		2197	4300	6497	SO:0001819	synonymous_variant			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339	1387	1387		Chromatin-modifying enzymes / K-acetyltransferases	2348	protein-coding gene	gene with protein product		600140	Rubinstein-Taybi syndrome	RSTS	NA	8413673	Standard	NM_004380	NM_001079846	NA	Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2406C>T	16.37:g.3823809G>A		NA	D3DUC9|O00147|Q16376	37	CCDS10509.1																																																																																			CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251591.2		-	ENST00000262367.5	Silent	SNP	16 : 3823809 - 3823809 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	303	59
DOPEY2	9980	broad.mit.edu	37	21	37603002	37603002	+	Missense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:37603002G>T	ENST00000399151.3	+	14	2005	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	640					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCCAGCAAGAACATTTTTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	65			NA	NA	21		NA											NA				37603002		2203	4300	6503	SO:0001583	missense			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197	9980	9980			1291	protein-coding gene	gene with protein product		604803	chromosome 21 open reading frame 5	C21orf5	NA	16301316, 16303751, 10931277	Standard	NM_005128	NM_005128	NA	Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1920G>T	21.37:g.37603002G>T	ENSP00000382104:p.Lys640Asn	NA	D3DSG5|Q6PJQ7|Q9UEZ3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977714	0.53720	.	.	ENSG00000142197	ENST00000399151	T	0.14144	2.53	5.43	4.55	0.56014	.	0.403370	0.29676	N	0.011497	T	0.24509	0.0594	M	0.63843	1.955	0.37959	D	0.932892	D;D	0.67145	0.996;0.992	D;P	0.65573	0.936;0.864	T	0.30679	-0.9970	10	0.09338	T	0.73	.	6.928	0.24426	0.296:0.0:0.704:0.0	.	640;640	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	640	ENSP00000382104:K640N	ENSP00000382104:K640N	K	+	3	2	DOPEY2	36524872	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.513000	0.45494	1.436000	0.47453	0.491000	0.48974	AAG	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194636.1		+	ENST00000399151.3	Missense_Mutation	SNP	21 : 37603002 - 37603002 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	338	63
DPYSL5	56896	broad.mit.edu	37	2	27150261	27150261	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:27150261C>T	ENST00000288699.6	+	4	719	c.561C>T	c.(559-561)atC>atT	p.I187I	DPYSL5_ENST00000401478.1_Silent_p.I187I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	187					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGGCAATCGCCCGCGTCC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	81	90			NA	NA	2		NA											NA				27150261		2203	4300	6503	SO:0001819	synonymous_variant			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851	56896	56896			20637	protein-coding gene	gene with protein product		608383			NA	10851247, 11034345	Standard	NM_020134	NM_020134	NA	Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.561C>T	2.37:g.27150261C>T		NA	Q8TCL6|Q9NQC4|Q9NRY9	37	CCDS1730.1																																																																																			DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214187.2		+	ENST00000288699.6	Silent	SNP	2 : 27150261 - 27150261 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	251	61
DUSP9	1852	broad.mit.edu	37	X	152915638	152915638	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:152915638C>T	ENST00000342782.3	+	4	1298	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	DUSP9_ENST00000370167.4_Missense_Mutation_p.R345W			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	345	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCAGCTTGCGGCTGGAGGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	123	128			NA	NA	X		NA											NA				152915638		2203	4300	6503	SO:0001583	missense			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829	1852	1852		Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases	3076	protein-coding gene	gene with protein product	map kinase phosphatase 4	300134			NA	9030581, 9286695	Standard	NM_001395	NM_001395	NA	Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1033C>T	X.37:g.152915638C>T	ENSP00000345853:p.Arg345Trp	NA	D3DWU5	37	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258205	0.39896	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	T;T	0.61274	0.12;0.12	4.53	2.62	0.31277	Dual specificity phosphatase, subgroup, catalytic domain (1);	1.080270	0.07212	N	0.859447	T	0.55705	0.1937	M	0.73319	2.225	0.40260	D	0.978167	D	0.58268	0.982	B	0.41412	0.356	T	0.55192	-0.8179	10	0.66056	D	0.02	.	5.9303	0.19134	0.4195:0.3277:0.2528:0.0	.	345	Q99956	DUS9_HUMAN	W	345	ENSP00000359186:R345W;ENSP00000345853:R345W	ENSP00000345853:R345W	R	+	1	2	DUSP9	152568832	1.000000	0.71417	0.272000	0.24630	0.422000	0.31414	2.428000	0.44749	0.422000	0.26005	-0.263000	0.10527	CGG	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061022.3		+	ENST00000342782.3	Missense_Mutation	SNP	X : 152915638 - 152915638 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	886	7
ELAVL4	1996	broad.mit.edu	37	1	50642759	50642759	+	Splice_Site	SNP	A	A	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:50642759A>G	ENST00000371824.1	+	3	507		c.e3-1		ELAVL4_ENST00000357083.4_Splice_Site|ELAVL4_ENST00000371823.4_Splice_Site|ELAVL4_ENST00000492299.1_Splice_Site|ELAVL4_ENST00000371819.1_Splice_Site|ELAVL4_ENST00000448907.2_Splice_Site|ELAVL4_ENST00000371827.1_Splice_Site|ELAVL4_ENST00000371821.1_Splice_Site			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	NA					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATATTTCCACAGGACAGAGTT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	62	63			NA	NA	1		NA											NA				50642759		2203	4300	6503	SO:0001630	splice_region_variant			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374	1996	1996		RNA binding motif (RRM) containing	3315	protein-coding gene	gene with protein product	Hu antigen D	168360	ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D), ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4	HUD	NA	8222755	Standard	NM_021952	XM_005270581	NA	Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371824.1:c.251-1A>G	1.37:g.50642759A>G		NA	B1APY6|B1APY7|Q8IYD4|Q96J74|Q96J75|Q9UD24	37	CCDS44140.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339651	0.60963	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7759	0.78214	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELAVL4	50415346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.703000	0.91344	2.308000	0.77769	0.533000	0.62120	.	ELAVL4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021711.1	Intron	+	ENST00000371824.1	Splice_Site	SNP	1 : 50642759 - 50642759 G PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	214	21
ELF1	1997	broad.mit.edu	37	13	41523989	41523989	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:41523989G>A	ENST00000239882.3	-	5	796	c.482C>T	c.(481-483)gCa>gTa	p.A161V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.A137V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	161					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CGGTGAGTCTGCATATTTTTC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	181	186			NA	NA	13		NA											NA				41523989		2203	4300	6503	SO:0001583	missense			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690	1997	1997			3316	protein-coding gene	gene with protein product		189973			NA	1545787	Standard	NM_172373	NM_001145353	NA	Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.482C>T	13.37:g.41523989G>A	ENSP00000239882:p.Ala161Val	NA	Q8N6F6|Q9UDE1	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259936	0.23051	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.20332	2.11;2.08	5.84	-2.05	0.07321	.	0.767917	0.12353	N	0.476371	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.003;0.004	T	0.27971	-1.0058	10	0.33940	T	0.23	.	1.3405	0.02153	0.2585:0.0968:0.3523:0.2924	.	137;161	E9PDQ9;P32519	.;ELF1_HUMAN	V	137;161	ENSP00000405580:A137V;ENSP00000239882:A161V	ENSP00000239882:A161V	A	-	2	0	ELF1	40421989	0.001000	0.12720	0.033000	0.17914	0.656000	0.38851	0.096000	0.15147	-0.099000	0.12263	-0.282000	0.10007	GCA	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044654.3		-	ENST00000239882.3	Missense_Mutation	SNP	13 : 41523989 - 41523989 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	785	6
EPHA5	2044	broad.mit.edu	37	4	66230893	66230893	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:66230893C>T	ENST00000273854.3	-	12	2678	c.2078G>A	c.(2077-2079)cGt>cAt	p.R693H	EPHA5_ENST00000354839.4_Missense_Mutation_p.R671H|EPHA5_ENST00000511294.1_Missense_Mutation_p.R694H|EPHA5_ENST00000432638.2_Missense_Mutation_p.R530H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	693	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R693H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAGTTTCAAACGTCCACTACA	0.358		NA								TSP Lung(17;0.13)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)											131	137	135			NA	NA	4		NA											NA				66230893		2203	4300	6503	SO:0001583	missense			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242	2044	2044		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3389	protein-coding gene	gene with protein product		600004	EphA5		NA	9267020, 7528718	Standard	NM_004439	NM_004439	NA	Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2078G>A	4.37:g.66230893C>T	ENSP00000273854:p.Arg693His	NA	Q7Z3F2	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722513	0.89298	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000017	T	0.71609	0.3360	L	0.35341	1.055	0.53688	D	0.999971	D;B;D;D	0.89917	0.996;0.033;0.995;1.0	D;B;P;D	0.66497	0.942;0.047;0.903;0.944	T	0.70364	-0.4892	10	0.49607	T	0.09	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	672;694;671;693	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	H	693;530;671;694	ENSP00000273854:R693H;ENSP00000389208:R530H;ENSP00000346899:R671H;ENSP00000427638:R694H	ENSP00000273854:R693H	R	-	2	0	EPHA5	65913488	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.308000	0.51896	2.834000	0.97654	0.650000	0.86243	CGT	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251388.2		-	ENST00000273854.3	Missense_Mutation	SNP	4 : 66230893 - 66230893 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	463	60
FGFR1	2260	broad.mit.edu	37	8	38279439	38279439	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:38279439G>A	ENST00000397103.1	-	6	871				FGFR1_ENST00000532791.1_Silent_p.T319T|FGFR1_ENST00000356207.5_Silent_p.T230T|FGFR1_ENST00000397108.4_Silent_p.T317T|FGFR1_ENST00000425967.3_Silent_p.T350T|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000335922.5_Silent_p.T311T|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397113.2_Silent_p.T317T|FGFR1_ENST00000397091.5_Silent_p.T317T|FGFR1_ENST00000447712.2_Silent_p.T319T|FGFR1_ENST00000326324.6_Silent_p.T228T			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	NA					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCTCTTTGTCGGTGGTATTAA	0.498		1	T	BCR, FOP, ZNF198, CEP1	MPD, NHL		Pfeiffer syndrome, Kallman syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													68	70	69			NA	NA	8		NA											NA				38279439		2085	4259	6344	SO:0001627	intron_variant			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2260	2260	2.7.10.1	CD molecules, Immunoglobulin superfamily / I-set domain containing	3688	protein-coding gene	gene with protein product	Pfeiffer syndrome	136350	fms-related tyrosine kinase 2	FLT2, KAL2	NA	2162671	Standard		NM_015850	NA	Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000397103.1:c.814+1103C>T	8.37:g.38279439G>A		NA	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	37																																																																																				FGFR1-011	NOVEL	non_canonical_conserved|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000304020.1		-	ENST00000397103.1	Intron	SNP	8 : 38279439 - 38279439 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	174	11
FLNA	2316	broad.mit.edu	37	X	153593084	153593084	+	Missense_Mutation	SNP	A	A	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:153593084A>G	ENST00000344736.4	-	12	1874	c.1832T>C	c.(1831-1833)tTc>tCc	p.F611S	FLNA_ENST00000369850.3_Missense_Mutation_p.F611S|FLNA_ENST00000422373.1_Missense_Mutation_p.F611S|FLNA_ENST00000360319.4_Missense_Mutation_p.F611S			P21333	FLNA_HUMAN	filamin A, alpha	611					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCACCGAGAAGCCTGACAA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	89	86			NA	NA	X		NA											NA				153593084		2162	4231	6393	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.1832T>C	X.37:g.153593084A>G	ENSP00000358863:p.Phe611Ser	NA	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	A	19.04	3.750803	0.69533	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91843	-1.86;-1.86;-2.92;-2.92	4.86	4.86	0.63082	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	D	0.96519	0.8864	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.955	D	0.97193	0.9859	10	0.87932	D	0	.	13.6752	0.62449	1.0:0.0:0.0:0.0	.	611;611	P21333-2;P21333	.;FLNA_HUMAN	S	611;584;611;611;611	ENSP00000353467:F611S;ENSP00000416926:F611S;ENSP00000358866:F611S;ENSP00000358863:F611S	ENSP00000358863:F611S	F	-	2	0	FLNA	153246278	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	9.336000	0.96533	1.602000	0.50124	0.427000	0.28365	TTC	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153593084 - 153593084 G PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	394	65
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	102	92			NA	NA	9		NA											NA				117757		2179	4281	6460	SO:0001819	synonymous_variant			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122	2298	2298		Forkhead boxes	3805	protein-coding gene	gene with protein product		601092		FKHL9	NA	7957066, 8825632, 12234674	Standard	NM_207305	NM_207305	NA	Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.363G>A	9.37:g.117757C>T		NA	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	37	CCDS34975.1																																																																																			FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055433.1		-	ENST00000382500.2	Silent	SNP	9 : 117757 - 117757 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	892	8
FPR3	2359	broad.mit.edu	37	19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:52327921G>A	ENST00000339223.4	+	2	1099	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_ENST00000595991.1_Missense_Mutation_p.R307H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	125	127			NA	NA	19		NA											NA				52327921		2203	4300	6503	SO:0001583	missense				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474	2359	2359		GPCR / Class A : Formyl peptide receptors	3828	protein-coding gene	gene with protein product		136539	formyl peptide receptor-like 2	FPRL2	NA	1612600, 8198572	Standard	NM_002030	NM_002030	NA	Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.920G>A	19.37:g.52327921G>A	ENSP00000341821:p.Arg307His	NA		37	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	1.268	-0.613931	0.03690	.	.	ENSG00000187474	ENST00000339223	T	0.39592	1.07	2.34	-4.68	0.03309	.	0.818789	0.10312	N	0.689855	T	0.25158	0.0611	N	0.16266	0.395	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.15723	-1.0427	10	0.54805	T	0.06	.	12.3051	0.54898	0.2252:0.0:0.7748:0.0	.	307	P25089	FPR3_HUMAN	H	307	ENSP00000341821:R307H	ENSP00000341821:R307H	R	+	2	0	FPR3	57019733	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.232000	0.09055	-1.239000	0.02532	-1.842000	0.00583	CGT	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466914.1		+	ENST00000339223.4	Missense_Mutation	SNP	19 : 52327921 - 52327921 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	660	6
FRMPD4	9758	broad.mit.edu	37	X	12516909	12516909	+	Missense_Mutation	SNP	T	T	C			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:12516909T>C	ENST00000380682.1	+	2	658	c.152T>C	c.(151-153)tTc>tCc	p.F51S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	51	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGAGACTACTTCATCAAGTAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	69	73			NA	NA	X		NA											NA				12516909		2203	4300	6503	SO:0001583	missense			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933	9758	9758			29007	protein-coding gene	gene with protein product		300838	PDZ domain containing 10	PDZK10, PDZD10	NA	9205841	Standard	XM_045712	NM_014728	NA	Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.152T>C	X.37:g.12516909T>C	ENSP00000370057:p.Phe51Ser	NA	A8K0X9|O15032	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981669	0.53827	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.13657	2.57	5.13	5.13	0.70059	WW/Rsp5/WWP (2);PDZ/DHR/GLGF (1);	0.281292	0.34200	N	0.004165	T	0.25865	0.0630	M	0.89287	3.02	0.42617	D	0.993335	B;B	0.18013	0.025;0.025	B;B	0.18561	0.022;0.022	T	0.10451	-1.0629	10	0.87932	D	0	.	14.3389	0.66611	0.0:0.0:0.0:1.0	.	43;51	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	51;42;40	ENSP00000370057:F51S	ENSP00000304583:F40S	F	+	2	0	FRMPD4	12426830	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.718000	0.54919	1.834000	0.53371	0.486000	0.48141	TTC	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055771.1		+	ENST00000380682.1	Missense_Mutation	SNP	X : 12516909 - 12516909 C PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	275	45
GARS	2617	broad.mit.edu	37	7	30656770	30656770	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:30656770G>A	ENST00000389266.3	+	10	1476	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	412					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.R412H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TTCATTGGCCGCATCTACCTC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											179	167	171			NA	NA	7		NA											NA				30656770		1932	4138	6070	SO:0001583	missense			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	2617	2617	6.1.1.14	Aminoacyl tRNA synthetases / Class II	4162	protein-coding gene	gene with protein product	glycine tRNA ligase	600287	Charcot-Marie-Tooth neuropathy 2D	CMT2D	NA	8595897, 8872480	Standard	NM_002047	NM_002047	NA	Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1235G>A	7.37:g.30656770G>A	ENSP00000373918:p.Arg412His	NA	B3KQA2|B4DIA0|Q969Y1	37	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303525	0.95601	.	.	ENSG00000106105	ENST00000389266	T	0.79247	-1.25	5.22	5.22	0.72569	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.89525	0.6740	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91138	0.4943	10	0.87932	D	0	-10.2399	16.6573	0.85232	0.0:0.0:1.0:0.0	.	412	P41250	SYG_HUMAN	H	412	ENSP00000373918:R412H	ENSP00000373918:R412H	R	+	2	0	GARS	30623295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000327735.1		+	ENST00000389266.3	Missense_Mutation	SNP	7 : 30656770 - 30656770 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	568	6
GFPT2	9945	broad.mit.edu	37	5	179763567	179763567	+	Missense_Mutation	SNP	G	G	C			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:179763567G>C	ENST00000253778.8	-	3	295	c.126C>G	c.(124-126)atC>atG	p.I42M		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	42	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TATTCCCATCGATCGCCACAC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	206	204			NA	NA	5		NA											NA				179763567		2040	4201	6241	SO:0001583	missense			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459	9945	9945			4242	protein-coding gene	gene with protein product	glutamine: fructose-6-phosphate aminotransferase 2	603865			NA	10198162	Standard	NM_005110	NM_005110	NA	Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.126C>G	5.37:g.179763567G>C	ENSP00000253778:p.Ile42Met	NA	Q53XM2|Q9BWS4	37	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.910022	0.33721	.	.	ENSG00000131459	ENST00000253778	T	0.77489	-1.1	6.17	-5.21	0.02815	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.051024	0.85682	D	0.000000	D	0.83147	0.5191	M	0.79011	2.435	0.40542	D	0.981037	P	0.51449	0.945	P	0.57324	0.818	D	0.83771	0.0220	9	.	.	.	-28.7535	18.0332	0.89291	0.7778:0.0:0.2222:0.0	.	42	O94808	GFPT2_HUMAN	M	42	ENSP00000253778:I42M	.	I	-	3	3	GFPT2	179696173	0.002000	0.14202	0.243000	0.24186	0.061000	0.15899	-1.368000	0.02580	-1.095000	0.03050	-0.150000	0.13652	ATC	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373444.4		-	ENST00000253778.8	Missense_Mutation	SNP	5 : 179763567 - 179763567 C PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	1082	199
GLCE	26035	broad.mit.edu	37	15	69553616	69553616	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:69553616G>A	ENST00000559420.2	+	2	790	c.585G>A	c.(583-585)gcG>gcA	p.A195A	GLCE_ENST00000261858.2_Silent_p.A259A|GLCE_ENST00000559500.1_3'UTR			O94923	GLCE_HUMAN	glucuronic acid epimerase	259					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GCTTTATGGCGAATGTGGCTG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	151	152			NA	NA	15		NA											NA				69553616		2200	4298	6498	SO:0001819	synonymous_variant			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	26035	26035	5.1.3.12		17855	protein-coding gene	gene with protein product	heparan sulfate epimerase	612134	D-glucuronyl C5-epimerase, UDP-glucuronic acid epimerase		NA	15853773	Standard	NM_015554	NM_015554	NA	Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000559420.2:c.585G>A	15.37:g.69553616G>A		NA	Q6GUQ2	37																																																																																				GLCE-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000416668.3		+	ENST00000559420.2	Silent	SNP	15 : 69553616 - 69553616 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	549	5
GPR133	283383	broad.mit.edu	37	12	131622750	131622750	+	Silent	SNP	C	C	T	rs34765022		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:131622750C>T	ENST00000376682.4	+	16	1818	c.1563C>T	c.(1561-1563)aaC>aaT	p.N521N	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000261654.5_Silent_p.N835N|GPR133_ENST00000535015.1_Silent_p.N867N|GPR133_ENST00000543617.1_Silent_p.N354N			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	835	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N835N(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACCTCCAACGCGAAGCCCT	0.612		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	0.005	SNP								NA				1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	90	71	78		2505	-0.2	0	12	dbSNP_126	78	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	GPR133	NM_198827.3		0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154		835/875	131622750	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452	283383	283383		-, GPCR / Class B : Orphans	19893	protein-coding gene	gene with protein product		613639			NA		Standard	NM_198827	NM_198827	NA	Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000376682.4:c.1563C>T	12.37:g.131622750C>T		NA	Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.018	-0.202417	0.06219	0.0	2.33E-4	ENSG00000111452	ENST00000335486	.	.	.	4.46	-0.207	0.13189	.	.	.	.	.	T	0.31979	0.0814	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30090	-0.9990	4	.	.	.	.	8.0838	0.30760	0.0:0.47:0.0:0.53	rs34765022	.	.	.	M	189	.	.	T	+	2	0	GPR133	130188703	0.201000	0.23410	0.000000	0.03702	0.034000	0.12701	0.158000	0.16422	0.022000	0.15160	-0.254000	0.11334	ACG	GPR133-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399364.1		+	ENST00000376682.4	Silent	SNP	12 : 131622750 - 131622750 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	198	40
HFM1	164045	broad.mit.edu	37	1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:91846537C>T	ENST00000370425.3	-	7	903	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	269							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.A269T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAAATTTTGCCGCTTACAAT	0.219		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											54	63	60			NA	NA	1		NA											NA				91846537		2194	4294	6488	SO:0001583	missense			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669	164045	164045			20193	protein-coding gene	gene with protein product		615684	SEC63 domain containing 1	SEC63D1	NA	14702039, 17286053	Standard	NM_001017975	XM_006710395	NA	Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.805G>A	1.37:g.91846537C>T	ENSP00000359454:p.Ala269Thr	NA	B1B0B6|Q8N9Q0	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054465	0.19907	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.58797	0.31	5.81	2.87	0.33458	.	0.000000	0.45606	U	0.000360	T	0.29093	0.0723	L	0.54323	1.7	0.80722	D	1	B;B	0.15719	0.014;0.002	B;B	0.08055	0.003;0.003	T	0.09100	-1.0690	10	0.23891	T	0.37	.	8.468	0.32969	0.0:0.5885:0.0:0.4115	.	269;269	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	269;302;128	ENSP00000359454:A269T	ENSP00000359454:A269T	A	-	1	0	HFM1	91619125	0.079000	0.21365	0.903000	0.35520	0.987000	0.75469	0.529000	0.23019	0.339000	0.23719	-0.136000	0.14681	GCA	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316716.2		-	ENST00000370425.3	Missense_Mutation	SNP	1 : 91846537 - 91846537 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	408	5
HFM1	164045	broad.mit.edu	37	1	91739306	91739306	+	Silent	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:91739306T>A	ENST00000370425.3	-	34	3833	c.3735A>T	c.(3733-3735)ggA>ggT	p.G1245G	HFM1_ENST00000370424.3_Silent_p.G924G|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Silent_p.G477G	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1245							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCTAACTTTTCCATAGATTT	0.313		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	131	137			NA	NA	1		NA											NA				91739306		2203	4298	6501	SO:0001819	synonymous_variant			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669	164045	164045			20193	protein-coding gene	gene with protein product		615684	SEC63 domain containing 1	SEC63D1	NA	14702039, 17286053	Standard	NM_001017975	XM_006710395	NA	Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3735A>T	1.37:g.91739306T>A		NA	B1B0B6|Q8N9Q0	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	2.695	-0.272273	0.05716	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.75	2.13	0.27403	.	.	.	.	.	T	0.10680	0.0261	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	4.7459	0.13036	0.0:0.1688:0.1611:0.6701	.	.	.	.	V	457	.	.	E	-	2	0	HFM1	91511894	0.000000	0.05858	0.000000	0.03702	0.490000	0.33462	0.682000	0.25335	0.105000	0.17753	0.533000	0.62120	GAA	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316716.2		-	ENST00000370425.3	Silent	SNP	1 : 91739306 - 91739306 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	796	68
HIPK3	10114	broad.mit.edu	37	11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	131	130			NA	NA	11		NA											NA				33373714		2202	4298	6500	SO:0001583	missense			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422	10114	10114			4915	protein-coding gene	gene with protein product		604424	homeodomain-interacting protein kinase 3		NA	9373137, 9748262	Standard	NM_005734	NM_005734	NA	Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3074G>A	11.37:g.33373714G>A	ENSP00000304226:p.Arg1025Gln	NA	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880365	0.33162	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.62	4.7	0.59300	.	0.145914	0.31872	N	0.006928	T	0.28267	0.0698	N	0.14661	0.345	0.49483	D	0.999795	B;B	0.14805	0.011;0.006	B;B	0.16289	0.015;0.006	T	0.08493	-1.0719	10	0.07325	T	0.83	.	13.6209	0.62136	0.0754:0.0:0.9246:0.0	.	1004;1025	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Q	1004;1025;1004;1004	ENSP00000431710:R1004Q;ENSP00000304226:R1025Q;ENSP00000368301:R1004Q;ENSP00000398241:R1004Q	ENSP00000304226:R1025Q	R	+	2	0	HIPK3	33330290	1.000000	0.71417	0.617000	0.29091	0.818000	0.46254	4.652000	0.61454	1.359000	0.45940	0.655000	0.94253	CGA	HIPK3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255358.1		+	ENST00000303296.4	Missense_Mutation	SNP	11 : 33373714 - 33373714 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	737	9
HK3	3101	broad.mit.edu	37	5	176308805	176308805	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:176308805G>A	ENST00000292432.5	-	17	2372	c.2281C>T	c.(2281-2283)Cgc>Tgc	p.R761C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	761	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGATGTGGCGGACGATCTCC	0.562		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	0.0048	SNP								NA				0													111	115	114			NA	NA	5		NA											NA				176308805		2203	4300	6503	SO:0001583	missense				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	3101	3101	2.7.1.1		4925	protein-coding gene	gene with protein product		142570			NA	8812439	Standard		NM_002115	NA	Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2281C>T	5.37:g.176308805G>A	ENSP00000292432:p.Arg761Cys	NA	Q8N1E7	37	CCDS4407.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.39	3.377756	0.61735	.	.	ENSG00000160883	ENST00000292432	D	0.98987	-5.3	4.82	3.95	0.45737	Hexokinase, C-terminal (1);	0.000000	0.53938	D	0.000048	D	0.99597	0.9854	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97583	1.0112	10	0.87932	D	0	.	13.13	0.59375	0.0786:0.0:0.9214:0.0	.	761	P52790	HXK3_HUMAN	C	761	ENSP00000292432:R761C	ENSP00000292432:R761C	R	-	1	0	HK3	176241411	1.000000	0.71417	0.996000	0.52242	0.628000	0.37860	2.855000	0.48333	1.389000	0.46526	0.561000	0.74099	CGC	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253428.1		-	ENST00000292432.5	Missense_Mutation	SNP	5 : 176308805 - 176308805 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	455	48
HOXB5	3215	broad.mit.edu	37	17	46670813	46670813	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:46670813C>T	ENST00000239151.5	-	1	510	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	78						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TGGGCGGGCGCGGGGAAGGCG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													11	14	13			NA	NA	17		NA											NA				46670813		2185	4244	6429	SO:0001583	missense				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075	3215	3215		Homeoboxes / ANTP class : HOXL subclass	5116	protein-coding gene	gene with protein product		142960	homeo box B5	HOX2, HOX2A	NA	1973146, 1358459	Standard		NM_002147	NA	Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.232G>A	17.37:g.46670813C>T	ENSP00000239151:p.Ala78Thr	NA	B2RC69|P09069|Q17RP4	37	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530435	0.27387	.	.	ENSG00000120075	ENST00000239151	D	0.92299	-3.01	5.44	0.916	0.19373	.	0.579461	0.18522	N	0.138741	D	0.82545	0.5060	N	0.21282	0.65	0.29926	N	0.822337	B	0.15930	0.015	B	0.06405	0.002	T	0.72811	-0.4180	10	0.32370	T	0.25	.	6.425	0.21764	0.2685:0.5605:0.0977:0.0732	.	78	P09067	HXB5_HUMAN	T	78	ENSP00000239151:A78T	ENSP00000239151:A78T	A	-	1	0	HOXB5	44025812	0.126000	0.22350	0.998000	0.56505	0.904000	0.53231	0.035000	0.13797	0.663000	0.31027	-0.300000	0.09419	GCG	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358148.2		-	ENST00000239151.5	Missense_Mutation	SNP	17 : 46670813 - 46670813 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	110	13
HTR1A	3350	broad.mit.edu	37	5	63257304	63257304	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:63257304G>A	ENST00000323865.3	-	1	476	c.243C>T	c.(241-243)acC>acT	p.T81T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	81					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCATGAGGTCGGTGACCGCCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	5		NA											NA				63257304		2203	4300	6503	SO:0001819	synonymous_variant			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394	3350	3350		5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only	5286	protein-coding gene	gene with protein product		109760	5-hydroxytryptamine (serotonin) receptor 1A	ADRB2RL1, ADRBRL1	NA	2591972, 12969265	Standard	NM_000524	NM_000524	NA	Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.243C>T	5.37:g.63257304G>A		NA	Q6LAE7	37	CCDS34168.1																																																																																			HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368397.1		-	ENST00000323865.3	Silent	SNP	5 : 63257304 - 63257304 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	126	27
ITIH2	3698	broad.mit.edu	37	10	7773950	7773950	+	Silent	SNP	G	G	A	rs150260189		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:7773950G>A	ENST00000379587.4	+	12	1640	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	ITIH2_ENST00000358415.4_Silent_p.T546T			P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCGTTATCACGGCGACTTCGG	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	119	122			NA	NA	10		NA											NA				7773950		2203	4300	6503	SO:0001819	synonymous_variant			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655	3698	3698			6167	protein-coding gene	gene with protein product		146640	inter-alpha (globulin) inhibitor, H2 polypeptide		NA	1385302, 10100603	Standard	NM_002216	NM_002216	NA	Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000379587.4:c.1605G>A	10.37:g.7773950G>A		NA	Q14659|Q15484|Q5T986	37																																																																																				ITIH2-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000046679.2		+	ENST00000379587.4	Silent	SNP	10 : 7773950 - 7773950 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	410	6
KCNC1	3746	broad.mit.edu	37	11	17758047	17758047	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:17758047C>T	ENST00000379472.3	+	1	528	c.498C>T	c.(496-498)ggC>ggT	p.G166G	KCNC1_ENST00000265969.6_Silent_p.G166G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCCGGCCTGGCGGCTTTTGGC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159	3746	3746		Potassium channels, Voltage-gated ion channels / Potassium channels	6233	protein-coding gene	gene with protein product		176258			NA	8449507, 16382104	Standard	NM_004976	NM_004976	NA	Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.498C>T	11.37:g.17758047C>T		NA		37	CCDS7827.1																																																																																			KCNC1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389389.1		+	ENST00000379472.3	Silent	SNP	11 : 17758047 - 17758047 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	109	23
KCNJ4	3761	broad.mit.edu	37	22	38823844	38823844	+	Silent	SNP	G	G	C			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr22:38823844G>C	ENST00000303592.3	-	2	552	c.294C>G	c.(292-294)ggC>ggG	p.G98G		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	98	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ccgccgccgggccccccgccg	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	20	20			NA	NA	22		NA											NA				38823844		2199	4294	6493	SO:0001819	synonymous_variant			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135	3761	3761		Potassium channels, Voltage-gated ion channels / Potassium channels, Inwardly rectifying	6265	protein-coding gene	gene with protein product		600504			NA	8016146, 16382105	Standard	NM_004981	NM_152868	NA	Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.294C>G	22.37:g.38823844G>C		NA	Q14D44	37	CCDS13971.1																																																																																			KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321447.1		-	ENST00000303592.3	Silent	SNP	22 : 38823844 - 38823844 C PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	88	6
KCNMB1	3779	broad.mit.edu	37	5	169812420	169812420	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:169812420C>T	ENST00000274629.4	-	2	474	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11Q|KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	11					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGTCTCTCCCCGCTTCTGGGC	0.537		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	0.0014	SNP								NA				0								C	,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	137	113	121		,32	5.1	1	5		121	9,8591	7.1+/-27.0	0,9,4291	yes	intron,missense	KCNMB1,KCNIP1	NM_001034838.1,NM_004137.2	,43	0,11,6492	TT,TC,CC	NA	0.1047,0.0454,0.0846	,probably-damaging	,11/192	169812420	11,12995	2203	4300	6503	SO:0001583	missense			AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936	NA	3779		Potassium channels	6285	protein-coding gene	gene with protein product	BK channel beta subunit	603951			NA	8799178, 9888999	Standard		NM_004137	NA	Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.32G>A	5.37:g.169812420C>T	ENSP00000274629:p.Arg11Gln	NA	O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	37	CCDS4373.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.7	4.030060	0.75504	4.54E-4	0.001047	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.09630	2.96;2.96	5.14	5.14	0.70334	.	0.193157	0.46145	D	0.000307	T	0.28665	0.0710	L	0.57536	1.79	0.35602	D	0.807915	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.11991	-1.0565	9	.	.	.	.	14.4764	0.67548	0.0:1.0:0.0:0.0	.	11;11	Q16558-2;Q16558	.;KCMB1_HUMAN	Q	11	ENSP00000274629:R11Q;ENSP00000427940:R11Q	.	R	-	2	0	KCNMB1	169744998	1.000000	0.71417	0.998000	0.56505	0.652000	0.38707	2.535000	0.45685	2.545000	0.85829	0.655000	0.94253	CGG	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252830.3		-	ENST00000274629.4	Missense_Mutation	SNP	5 : 169812420 - 169812420 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	420	82
KIF17	57576	broad.mit.edu	37	1	21031119	21031119	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:21031119G>A	ENST00000247986.2	-	5	1254	c.944C>T	c.(943-945)gCg>gTg	p.A315V	KIF17_ENST00000400463.3_Missense_Mutation_p.A315V|KIF17_ENST00000375044.1_Missense_Mutation_p.A215V			Q9P2E2	KIF17_HUMAN	kinesin family member 17	315					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTTGTTGTCCGCAGGCGACAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	117	129			NA	NA	1		NA											NA				21031119		2203	4300	6503	SO:0001583	missense			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245	57576	57576		Kinesins	19167	protein-coding gene	gene with protein product	kinesin-like protein KIF17, KIF3-related motor protein, KIF17 variant protein	605037			NA	10846156	Standard	NM_020816	XR_241202	NA	Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.944C>T	1.37:g.21031119G>A	ENSP00000247986:p.Ala315Val	NA	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	37	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882098	0.91740	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.75821	-0.97;-0.97;-0.97	5.11	5.11	0.69529	Kinesin, motor domain (3);	0.000000	0.32401	U	0.006141	D	0.87892	0.6292	M	0.86864	2.845	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.71184	0.972;0.946	D	0.89962	0.4087	10	0.87932	D	0	.	17.8832	0.88846	0.0:0.0:1.0:0.0	.	315;315	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	V	215;315;315	ENSP00000364184:A215V;ENSP00000383311:A315V;ENSP00000247986:A315V	ENSP00000247986:A315V	A	-	2	0	KIF17	20903706	1.000000	0.71417	0.275000	0.24674	0.791000	0.44710	9.813000	0.99286	2.554000	0.86153	0.462000	0.41574	GCG	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276995.1		-	ENST00000247986.2	Missense_Mutation	SNP	1 : 21031119 - 21031119 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	302	5
KLHDC7A	127707	broad.mit.edu	37	1	18809344	18809344	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:18809344C>T	ENST00000400664.1	+	1	1921	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	623						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACGTTCGCCCTGGCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	25	24			NA	NA	1		NA											NA				18809344		2198	4292	6490	SO:0001819	synonymous_variant			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023	127707	127707			26791	protein-coding gene	gene with protein product					NA		Standard	NM_152375	NM_152375	NA	Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1869C>T	1.37:g.18809344C>T		NA	Q8N8W6	37	CCDS185.2																																																																																			KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006923.3		+	ENST00000400664.1	Silent	SNP	1 : 18809344 - 18809344 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	135	14
KMT2C	58508	broad.mit.edu	37	7	151970855	151970855	+	Missense_Mutation	SNP	G	G	C			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:151970855G>C	ENST00000262189.6	-	7	1165	c.947C>G	c.(946-948)aCc>aGc	p.T316S	KMT2C_ENST00000355193.2_Missense_Mutation_p.T316S	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA								p.T316S(2)			NA						ATCCTGAAAGGTGCCGGCTCC	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)											267	249	255			NA	NA	7		NA											NA				151970855		2203	4300	6503	SO:0001583	missense			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.947C>G	7.37:g.151970855G>C	ENSP00000262189:p.Thr316Ser	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204941	0.38905	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.70631	-0.5;-0.5	4.87	3.99	0.46301	Zinc finger, PHD-type (1);	0.000000	0.45867	D	0.000333	T	0.52370	0.1730	N	0.04994	-0.135	0.80722	D	1	P	0.39717	0.684	P	0.45099	0.469	T	0.49409	-0.8943	10	0.08381	T	0.77	.	13.4802	0.61332	0.0763:0.0:0.9237:0.0	.	316	Q8NEZ4	MLL3_HUMAN	S	316	ENSP00000262189:T316S;ENSP00000347325:T316S	ENSP00000262189:T316S	T	-	2	0	MLL3	151601788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.781000	0.99029	1.196000	0.43129	0.650000	0.86243	ACC	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Missense_Mutation	SNP	7 : 151970855 - 151970855 C PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	1557	9
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	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>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	422	89
KRTAP11-1	337880	broad.mit.edu	37	21	32253572	32253572	+	Missense_Mutation	SNP	C	C	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:32253572C>A	ENST00000332378.4	-	1	302	c.272G>T	c.(271-273)tGt>tTt	p.C91F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	91						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GTTGGAAATACAGGTAGTTTG	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	84	85			NA	NA	21		NA											NA				32253572		2203	4300	6503	SO:0001583	missense			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591	NA	337880		Keratin associated proteins	18922	protein-coding gene	gene with protein product		600064			NA	12359730	Standard		NM_175858	NA	Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.272G>T	21.37:g.32253572C>A	ENSP00000330720:p.Cys91Phe	NA	A1L4I8	37	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579810	0.46006	.	.	ENSG00000182591	ENST00000332378	T	0.03065	4.06	5.17	4.27	0.50696	.	0.222920	0.39020	N	0.001497	T	0.16128	0.0388	M	0.79258	2.445	0.37098	D	0.899749	D	0.76494	0.999	D	0.74348	0.983	T	0.00907	-1.1519	10	0.49607	T	0.09	-6.145	12.4326	0.55583	0.0:0.9123:0.0:0.0877	.	91	Q8IUC1	KR111_HUMAN	F	91	ENSP00000330720:C91F	ENSP00000330720:C91F	C	-	2	0	KRTAP11-1	31175443	1.000000	0.71417	0.996000	0.52242	0.624000	0.37722	3.372000	0.52387	2.608000	0.88229	0.650000	0.86243	TGT	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128225.1		-	ENST00000332378.4	Missense_Mutation	SNP	21 : 32253572 - 32253572 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	271	40
KRTAP4-4	84616	broad.mit.edu	37	17	39316570	39316570	+	Missense_Mutation	SNP	T	T	C	rs111563615		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:39316570T>C	ENST00000390661.3	-	1	413	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGACACACAGTAGCTGGGGCA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	49	46			NA	NA	17		NA											NA				39316570		2202	4297	6499	SO:0001583	missense			AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396	84616	84616		Keratin associated proteins	16928	protein-coding gene	gene with protein product			keratin associated protein 4-13	KRTAP4-13	NA	11279113	Standard		NM_032524	NA	Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.374A>G	17.37:g.39316570T>C	ENSP00000375076:p.Tyr125Cys	NA	Q9BYU7	37	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	0.686	-0.796392	0.02862	.	.	ENSG00000171396	ENST00000390661	T	0.00686	5.85	5.48	3.47	0.39725	.	1.549040	0.04692	U	0.414286	T	0.00241	0.0007	N	0.00020	-2.77	0.21627	N	0.999613	B	0.02656	0.0	B	0.04013	0.001	T	0.44159	-0.9346	10	0.02654	T	1	.	8.5299	0.33329	0.1529:0.7654:0.0:0.0817	.	125	Q9BYR3	KRA44_HUMAN	C	125	ENSP00000375076:Y125C	ENSP00000375076:Y125C	Y	-	2	0	KRTAP4-4	36570096	0.999000	0.42202	0.003000	0.11579	0.023000	0.10783	0.629000	0.24538	0.672000	0.31204	-0.137000	0.14449	TAC	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257291.1		-	ENST00000390661.3	Missense_Mutation	SNP	17 : 39316570 - 39316570 C PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	323	7
KRTAP8-1	337879	broad.mit.edu	37	21	32185365	32185365	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:32185365C>T	ENST00000329621.4	-	1	205	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	58						intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						GAGCAAATGGCGAGTATCTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	81	83			NA	NA	21		NA											NA				32185365		2203	4300	6503	SO:0001819	synonymous_variant			AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640	NA	337879		Keratin associated proteins	18935	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_175857	NA	Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.174G>A	21.37:g.32185365C>T		NA	Q3LI57	37	CCDS13607.1																																																																																			KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128223.1		-	ENST00000329621.4	Silent	SNP	21 : 32185365 - 32185365 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	486	82
MALT1	10892	broad.mit.edu	37	18	56409220	56409220	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:56409220G>A	ENST00000348428.3	+	14	1985	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	MALT1_ENST00000345724.3_Missense_Mutation_p.R565Q|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	576					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TCTCTTGTGCGGAATCTACAG	0.378		NA	T	BIRC3	MALT									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	0													103	97	99			NA	NA	18		NA											NA				56409220		2203	4300	6503	SO:0001583	missense				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175	10892	10892		Immunoglobulin superfamily / Immunoglobulin-like domain containing	6819	protein-coding gene	gene with protein product	paracaspase	604860		MLT	NA	10339464, 10406266, 10523859	Standard		NM_006785	NA	Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1727G>A	18.37:g.56409220G>A	ENSP00000319279:p.Arg576Gln	NA	Q9NTB7|Q9ULX4	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587606	0.86851	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.14144	2.54;2.53	5.53	5.53	0.82687	.	0.112546	0.64402	D	0.000012	T	0.35128	0.0921	L	0.59436	1.845	0.34914	D	0.747776	D;D	0.89917	1.0;0.999	D;P	0.67725	0.953;0.899	T	0.34551	-0.9824	10	0.62326	D	0.03	-17.4564	19.053	0.93053	0.0:0.0:1.0:0.0	.	565;576	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	Q	576;565	ENSP00000319279:R576Q;ENSP00000304161:R565Q	ENSP00000304161:R565Q	R	+	2	0	MALT1	54560200	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.500000	0.60387	2.600000	0.87896	0.446000	0.29264	CGG	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256132.2		+	ENST00000348428.3	Missense_Mutation	SNP	18 : 56409220 - 56409220 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	273	4
MC3R	4159	broad.mit.edu	37	20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	160	163			NA	NA	20		NA											NA				54824819		2203	4300	6503	SO:0001583	missense				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089	4159	4159		GPCR / Class A : Melanocortin receptors	6931	protein-coding gene	gene with protein product		155540			NA	8463333	Standard		NM_019888	NA	Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.920G>A	20.37:g.54824819G>A	ENSP00000243911:p.Arg307His	NA	Q4KN27|Q9H517	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520625	0.64747	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000014	D	0.82917	0.5141	H	0.97440	4.005	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	D	0.89536	0.3789	10	0.87932	D	0	.	18.1096	0.89530	0.0:0.0:1.0:0.0	.	344	P41968	MC3R_HUMAN	H	307	ENSP00000243911:R307H	ENSP00000243911:R307H	R	+	2	0	MC3R	54258226	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	9.731000	0.98807	2.362000	0.80069	0.555000	0.69702	CGC	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079786.2		+	ENST00000243911.2	Missense_Mutation	SNP	20 : 54824819 - 54824819 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	665	5
MCMDC2	157777	broad.mit.edu	37	8	67809157	67809157	+	Missense_Mutation	SNP	C	C	T	rs142662778	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:67809157C>T	ENST00000422365.2	+	12	1760	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	MCMDC2_ENST00000541540.1_Missense_Mutation_p.A467V|MCMDC2_ENST00000396592.3_Missense_Mutation_p.A530V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A530V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	530					DNA replication		ATP binding|DNA binding	p.A525V(1)|p.A530V(1)		endometrium(2)|kidney(2)|lung(5)	9						CTGTTTTATGCGGCTTCTAGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	prostate(2)						C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	106	106	106		1589,1589,1589	1.5	0.5	8	dbSNP_134	106	14,8586	10.5+/-38.8	0,14,4286	no	missense,missense,missense	C8orf45	NM_001136160.1,NM_001136161.1,NM_173518.4	64,64,64	0,14,6489	TT,TC,CC	NA	0.1628,0.0,0.1076	benign,benign,benign	530/633,530/591,530/682	67809157	14,12992	2203	4300	6503	SO:0001583	missense			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460	157777	157777			26368	protein-coding gene	gene with protein product			chromosome 8 open reading frame 45	C8orf45	NA		Standard	NM_173518	NM_173518	NA	Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1589C>T	8.37:g.67809157C>T	ENSP00000413632:p.Ala530Val	NA	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	4.025	0.002125	0.07819	0.0	0.001628	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.51	1.54	0.23209	.	1.248780	0.05550	N	0.567349	T	0.13670	0.0331	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28427	-1.0044	10	0.27082	T	0.32	-0.3643	0.4206	0.00455	0.2537:0.2452:0.1256:0.3755	.	467;530;530	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	V	530;530;530;467	ENSP00000379837:A530V;ENSP00000413632:A530V;ENSP00000317234:A530V;ENSP00000445629:A467V	ENSP00000317234:A530V	A	+	2	0	C8orf45	67971711	0.022000	0.18835	0.474000	0.27266	0.010000	0.07245	0.785000	0.26830	1.029000	0.39812	-0.300000	0.09419	GCG	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347350.1		+	ENST00000422365.2	Missense_Mutation	SNP	8 : 67809157 - 67809157 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	640	6
MECR	51102	broad.mit.edu	37	1	29543100	29543100	+	Splice_Site	SNP	C	C	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:29543100C>A	ENST00000373791.3	-	2	418	c.46G>T	c.(46-48)Gga>Tga	p.G16*	MECR_ENST00000263702.6_Splice_Site_p.G92*|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	92					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCAAGGTTACCTTGGATCATA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	221	219			NA	NA	1		NA											NA				29543100		2203	4300	6503	SO:0001630	splice_region_variant				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	51102	51102	1.3.1.38		19691	protein-coding gene	gene with protein product	nuclear receptor binding factor 1, mitochondrial 2-enoyl thioester reductase	608205			NA	9795230, 12654921	Standard	NM_016011	XM_005245885	NA	Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000373791.3:c.46+1G>T	1.37:g.29543100C>A		NA	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	37	CCDS30660.1	.	.	.	.	.	.	.	.	.	.	C	38	7.283297	0.98186	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5119	0.67794	0.0:1.0:0.0:0.0	.	.	.	.	X	16;92;4	.	.	G	-	1	0	MECR	29415687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.673000	0.74482	2.802000	0.96397	0.655000	0.94253	GGA	MECR-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130741.1	Nonsense_Mutation	-	ENST00000373791.3	Splice_Site	SNP	1 : 29543100 - 29543100 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	829	185
MTSS1L	92154	broad.mit.edu	37	16	70713713	70713713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:70713713G>A	ENST00000338779.6	-	5	632	c.358C>T	c.(358-360)Cag>Tag	p.Q120*		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	120	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TTGTCCAGCTGGTTGGCCGCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	38	38			NA	NA	16		NA											NA				70713713		2198	4300	6498	SO:0001587	stop_gained				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613	92154	92154			25094	protein-coding gene	gene with protein product	actin-bundling protein with BAIAP2 homology				NA	12477932	Standard	NM_138383	XM_006721335	NA	Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.358C>T	16.37:g.70713713G>A	ENSP00000341171:p.Gln120*	NA	A6NJI7|Q9BUA8	37	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394476	0.96009	.	.	ENSG00000132613	ENST00000254951;ENST00000338779	.	.	.	4.84	4.84	0.62591	.	0.250943	0.41294	D	0.000908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-5.8949	12.979	0.58554	0.0:0.0:0.8383:0.1617	.	.	.	.	X	120	.	ENSP00000254951:Q120X	Q	-	1	0	MTSS1L	69271214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.575000	0.82447	2.250000	0.74265	0.393000	0.25936	CAG	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000434927.3		-	ENST00000338779.6	Nonsense_Mutation	SNP	16 : 70713713 - 70713713 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	98	14
MUC5B	727897	broad.mit.edu	37	11	1272055	1272055	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:1272055G>A	ENST00000529681.1	+	31	14003	c.13945G>A	c.(13945-13947)Gcc>Acc	p.A4649T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4652T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4649	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.A4649T(1)|p.A4604T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cacccacaccgccagagtgct	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)						C	THR/ALA	1,4241		0,1,2120	123	151	141		13945	-0.8	0	11		141	0,8448		0,0,4224	no	missense	MUC5B	NM_002458.2	58	0,1,6344	AA,AG,GG	NA	0.0,0.0236,0.0079		4649/5763	1272055	1,12689	2121	4224	6345	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13945G>A	11.37:g.1272055G>A	ENSP00000436812:p.Ala4649Thr	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	3.668|3.668	-0.068133|-0.068133	0.07228|0.07228	2.36E-4|2.36E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637|ENST00000535652	T;T|.	0.15834|.	2.39;2.57|.	0.976|0.976	-0.754|-0.754	0.11065|0.11065	.|.	.|.	.|.	.|.	.|.	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.25235|.	0.121|.	B|.	0.12156|.	0.007|.	T|T	0.18366|0.18366	-1.0339|-1.0339	9|6	0.87932|0.45353	D|T	0|0.12	.|.	4.0397|4.0397	0.09745|0.09745	0.0:0.3403:0.4612:0.1985|0.0:0.3403:0.4612:0.1985	.|.	4652|.	E9PBJ0|.	.|.	T|H	4649;4652;4593|423	ENSP00000436812:A4649T;ENSP00000415793:A4652T|.	ENSP00000343037:A4593T|ENSP00000439776:R423H	A|R	+|+	1|2	0|0	MUC5B|MUC5B	1228631|1228631	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	-5.897000|-5.897000	0.00092|0.00092	-1.423000|-1.423000	0.02002|0.02002	-1.123000|-1.123000	0.02005|0.02005	GCC|CGC	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1272055 - 1272055 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	121	17
MYOZ3	91977	broad.mit.edu	37	5	150050154	150050154	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:150050154G>A	ENST00000297130.4	+	3	369	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MYOZ3_ENST00000517768.1_Missense_Mutation_p.R57H	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	57	Binding to ACTN2, PPP3CA and TCAP.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAGGCAGCGCCGTGTGCAG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	54	43	47		170,170	4	1	5		47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYOZ3	NM_001122853.1,NM_133371.3	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	57/252,57/252	150050154	1,13005	2203	4300	6503	SO:0001583	missense			AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591	91977	91977			18565	protein-coding gene	gene with protein product	calsarcin 3, FATZ related protein 3	610735			NA	11842093	Standard	NM_001122853	NM_001122853	NA	Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.170G>A	5.37:g.150050154G>A	ENSP00000297130:p.Arg57His	NA	B2R9Q4|Q8IVM1|Q8IVN1	37	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300097	0.81136	0.0	1.16E-4	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.66099	-0.19;-0.19	4.89	4.0	0.46444	.	0.165666	0.29185	N	0.012897	T	0.74504	0.3725	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.76187	-0.3051	10	0.72032	D	0.01	-8.5437	8.1756	0.31281	0.1697:0.0:0.8303:0.0	.	57	Q8TDC0	MYOZ3_HUMAN	H	57	ENSP00000428815:R57H;ENSP00000297130:R57H	ENSP00000297130:R57H	R	+	2	0	MYOZ3	150030347	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	1.895000	0.39778	2.416000	0.81992	0.555000	0.69702	CGC	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252369.1		+	ENST00000297130.4	Missense_Mutation	SNP	5 : 150050154 - 150050154 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	90	12
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C					neuroblastoma breakpoint family, member 20	NA								p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											49	57	54			NA	NA	1		NA											NA				148346684		2125	4271	6396	SO:0001583	missense				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832		100288142	100288142		neuroblastoma breakpoint family	32000	protein-coding gene	gene with protein product		614007			NA	16079250	Standard		NM_001278267	NA	Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.73C>T	1.37:g.148346684G>A	ENSP00000358203:p.Arg25Cys	NA		37		.	.	.	.	.	.	.	.	.	.	.	5.006	0.186830	0.09547	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04917	3.85;3.91;3.53	0.521	0.521	0.17046	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.23751	N	0.996944	D;B	0.56521	0.976;0.024	P;B	0.52066	0.689;0.012	T	0.34925	-0.9809	6	0.48119	T	0.1	.	.	.	.	.	25;25	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	C	25	ENSP00000358203:R25C;ENSP00000358189:R25C;ENSP00000389520:R25C	ENSP00000358189:R25C	R	-	1	0	NBPF20	146713308	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	1.201000	0.32259	0.529000	0.28599	0.184000	0.17185	CGC	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000100689.2		-	ENST00000369202.1	Missense_Mutation	SNP	1 : 148346684 - 148346684 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	1100	8
NGF	4803	broad.mit.edu	37	1	115829176	115829176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:115829176G>A	ENST00000369512.2	-	3	409	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	81					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAACGGAGTCGCCGCTTTTTA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	46	44			NA	NA	1		NA											NA				115829176		2203	4300	6503	SO:0001587	stop_gained				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259	4803	4803		Endogenous ligands	7808	protein-coding gene	gene with protein product		162030		NGFB	NA		Standard	NM_002506	XM_006710663	NA	Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.241C>T	1.37:g.115829176G>A	ENSP00000358525:p.Arg81*	NA	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	37	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640906	0.87859	.	.	ENSG00000134259	ENST00000369512	.	.	.	5.06	3.05	0.35203	.	0.058013	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0674	11.9013	0.52685	0.0:0.0:0.5284:0.4716	.	.	.	.	X	81	.	ENSP00000358525:R81X	R	-	1	2	NGF	115630699	0.998000	0.40836	0.836000	0.33094	0.748000	0.42578	3.935000	0.56560	0.536000	0.28733	0.467000	0.42956	CGA	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032832.1		-	ENST00000369512.2	Nonsense_Mutation	SNP	1 : 115829176 - 115829176 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	184	26
NINL	22981	broad.mit.edu	37	20	25442226	25442226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:25442226G>A	ENST00000278886.6	-	21	3701	c.3628C>T	c.(3628-3630)Cag>Tag	p.Q1210*	NINL_ENST00000422516.1_Nonsense_Mutation_p.Q861*	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1210					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGATGTTCCTGATTCAGGCAT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													190	161	171			NA	NA	20		NA											NA				25442226		2203	4300	6503	SO:0001587	stop_gained				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004	22981	22981		EF-hand domain containing	29163	protein-coding gene	gene with protein product	ninein-like protein	609580			NA	10231032	Standard	NM_025176	XM_005260678	NA	Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3628C>T	20.37:g.25442226G>A	ENSP00000278886:p.Gln1210*	NA	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593669	0.86953	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	.	.	.	4.69	0.163	0.14986	.	0.257192	0.31673	N	0.007250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-2.2951	7.9115	0.29793	0.0:0.2925:0.4189:0.2885	.	.	.	.	X	1210;861	.	ENSP00000278886:Q1210X	Q	-	1	0	NINL	25390226	0.990000	0.36364	0.013000	0.15412	0.104000	0.19210	0.957000	0.29215	-0.084000	0.12595	0.555000	0.69702	CAG	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078445.3		-	ENST00000278886.6	Nonsense_Mutation	SNP	20 : 25442226 - 25442226 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	373	72
NKRF	55922	broad.mit.edu	37	X	118725258	118725258	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:118725258T>A	ENST00000371527.1	-	2	782	c.130A>T	c.(130-132)Aaa>Taa	p.K44*	NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_Nonsense_Mutation_p.K59*|NKRF_ENST00000304449.5_Nonsense_Mutation_p.K44*	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	44	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCTTGCTTTTTAGGAGGATTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	62	62			NA	NA	X		NA											NA				118725258		2203	4300	6503	SO:0001587	stop_gained			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416	55922	55922		G patch domain containing	19374	protein-coding gene	gene with protein product		300440	NF-kappaB repressing factor		NA	10562553	Standard	NM_017544	NM_017544	NA	Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.130A>T	X.37:g.118725258T>A	ENSP00000360582:p.Lys44*	NA	Q4VC41|Q9UJ91	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	38	6.702982	0.97776	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	.	.	.	5.41	5.41	0.78517	.	0.288673	0.39020	N	0.001490	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1562	12.1414	0.54000	0.0:0.0:0.0:1.0	.	.	.	.	X	44;44;59	.	ENSP00000304803:K44X	K	-	1	0	NKRF	118609286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.298000	0.59067	1.800000	0.52685	0.486000	0.48141	AAA	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058044.1		-	ENST00000371527.1	Nonsense_Mutation	SNP	X : 118725258 - 118725258 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	554	113
NR2C1	7181	broad.mit.edu	37	12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	119	120			NA	NA	12		NA											NA				95451597		2203	4300	6503	SO:0001583	missense			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798	7181	7181		Nuclear hormone receptors	7971	protein-coding gene	gene with protein product		601529		TR2	NA	2597158	Standard	NM_003297	NM_001032287	NA	Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.602C>T	12.37:g.95451597G>A	ENSP00000333275:p.Ala201Val	NA	A8K5K4|Q15625|Q15626	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934588	0.92458	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.92149	-2.98;-2.7;-2.7	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;1.0;0.997	D;D;D;D	0.80764	0.989;0.994;0.989;0.985	D	0.95074	0.8207	10	0.44086	T	0.13	.	19.6188	0.95647	0.0:0.0:1.0:0.0	.	201;201;201;201	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	V	201	ENSP00000333275:A201V;ENSP00000376813:A201V;ENSP00000328843:A201V	ENSP00000328843:A201V	A	-	2	0	NR2C1	93975728	1.000000	0.71417	0.966000	0.40874	0.889000	0.51656	9.385000	0.97223	2.646000	0.89796	0.655000	0.94253	GCC	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407565.2		-	ENST00000333003.5	Missense_Mutation	SNP	12 : 95451597 - 95451597 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	591	5
OGDHL	55753	broad.mit.edu	37	10	50966564	50966564	+	Silent	SNP	C	C	T	rs149391137		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:50966564C>T	ENST00000374103.4	-	2	160	c.75G>A	c.(73-75)ccG>ccA	p.P25P	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Silent_p.P25P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	25					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGCCAAACACCGGGACGTCAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	48	48			NA	NA	10		NA											NA				50966564		2203	4300	6503	SO:0001819	synonymous_variant			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444	55753	55753			25590	protein-coding gene	gene with protein product					NA	10574462	Standard	NM_018245	NM_018245	NA	Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.75G>A	10.37:g.50966564C>T		NA	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	37	CCDS7234.1																																																																																			OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048007.1		-	ENST00000374103.4	Silent	SNP	10 : 50966564 - 50966564 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	266	45
OR51E1	143503	broad.mit.edu	37	11	4674426	4674426	+	Missense_Mutation	SNP	A	A	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:4674426A>T	ENST00000530215.1	+	2	171				OR51E1_ENST00000396952.5_Missense_Mutation_p.I224F			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	NA					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCTGCTTATTCTTAAGAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													199	184	189			NA	NA	11		NA											NA				4674426		2201	4298	6499	SO:0001627	intron_variant			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785	143503	143503		GPCR / Class A : Olfactory receptors	15194	protein-coding gene	gene with protein product		611267	olfactory receptor, family 51, subfamily E, member 1 pseudogene	OR51E1P, OR52A3P, GPR164	NA		Standard	NM_152430	NM_152430	NA	Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.131-131A>T	11.37:g.4674426A>T		NA	A8KAM6|Q5S4P5|Q66X57|Q6IF93	37		.	.	.	.	.	.	.	.	.	.	A	22.6	4.309349	0.81247	.	.	ENSG00000180785	ENST00000396952	T	0.57436	0.4	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.81870	0.4914	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88235	0.2906	10	0.87932	D	0	.	13.3903	0.60821	1.0:0.0:0.0:0.0	.	223	Q8TCB6	O51E1_HUMAN	F	224	ENSP00000380155:I224F	ENSP00000380155:I224F	I	+	1	0	OR51E1	4631002	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.711000	0.91396	2.105000	0.64084	0.533000	0.62120	ATT	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000385957.1		+	ENST00000530215.1	Intron	SNP	11 : 4674426 - 4674426 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	299	30
OTUD4	54726	broad.mit.edu	37	4	146058966	146058966	+	Silent	SNP	G	G	A	rs146975610	by1000genomes	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:146058966G>A	ENST00000454497.2	-	21	2903	c.2766C>T	c.(2764-2766)agC>agT	p.S922S	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.S987S	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	986							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTTCTTTCAGGCTTTGAATGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	134	131			NA	NA	4		NA											NA				146058966		2203	4300	6503	SO:0001819	synonymous_variant				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164	54726	54726		OTU domain containing	24949	protein-coding gene	gene with protein product		611744	OTU domain containing 4		NA	1475186, 12727813, 19996094	Standard	NM_017493	NM_001102653	NA	Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000454497.2:c.2766C>T	4.37:g.146058966G>A		NA	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	37	CCDS47139.1																																																																																			OTUD4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365114.1		-	ENST00000454497.2	Silent	SNP	4 : 146058966 - 146058966 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	771	6
PCDH17	27253	broad.mit.edu	37	13	58208913	58208913	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:58208913G>A	ENST00000377918.3	+	1	2259	c.2233G>A	c.(2233-2235)Gcc>Acc	p.A745T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	745					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGCCGCATCGCCGAGTACAG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(72;952 1291 1619 12849 33676)							NA				0													77	73	74			NA	NA	13		NA											NA				58208913		2203	4300	6503	SO:0001583	missense			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946	27253	27253		Cadherins / Protocadherins : Non-clustered	14267	protein-coding gene	gene with protein product		611760			NA	10835267	Standard	NM_001040429	NM_001040429	NA	Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2233G>A	13.37:g.58208913G>A	ENSP00000367151:p.Ala745Thr	NA	A8K1R5|Q5VVW9|Q5VVX0	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092421	0.55968	.	.	ENSG00000118946	ENST00000377918	T	0.56444	0.46	5.55	5.55	0.83447	.	0.097709	0.64402	D	0.000001	T	0.58680	0.2139	M	0.69823	2.125	0.53005	D	0.999961	P;P	0.47302	0.835;0.893	B;B	0.43331	0.416;0.285	T	0.60835	-0.7184	9	.	.	.	.	19.5072	0.95124	0.0:0.0:1.0:0.0	.	745;745	O14917-2;O14917	.;PCD17_HUMAN	T	745	ENSP00000367151:A745T	.	A	+	1	0	PCDH17	57106914	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	7.968000	0.87980	2.607000	0.88179	0.591000	0.81541	GCC	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045139.1		+	ENST00000377918.3	Missense_Mutation	SNP	13 : 58208913 - 58208913 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	211	27
PCDH8	5100	broad.mit.edu	37	13	53420520	53420520	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:53420520G>A	ENST00000377942.3	-	1	2255	c.2052C>T	c.(2050-2052)cgC>cgT	p.R684R	PCDH8_ENST00000338862.4_Silent_p.R684R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	684	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCTGAACACGCGACCGGGTG	0.706		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(36;25 841 9273 49207)							NA				0													7	10	9			NA	NA	13		NA											NA				53420520		2101	4198	6299	SO:0001819	synonymous_variant			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099	5100	5100		Cadherins / Protocadherins : Non-clustered	8660	protein-coding gene	gene with protein product		603580			NA	9787079, 9315676	Standard	NM_002590	NM_002590	NA	Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2052C>T	13.37:g.53420520G>A		NA	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	37	CCDS9438.1																																																																																			PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045108.2		-	ENST00000377942.3	Silent	SNP	13 : 53420520 - 53420520 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	124	27
PCDHB3	56132	broad.mit.edu	37	5	140481563	140481563	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:140481563G>A	ENST00000231130.2	+	1	1330	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	96	98			NA	NA	5		NA											NA				140481563		2203	4300	6503	SO:0001583	missense			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205	56132	56132		Cadherins / Protocadherins : Clustered	8688	other	protocadherin		606329			NA	10380929	Standard	NM_018937	NM_018937	NA	Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1330G>A	5.37:g.140481563G>A	ENSP00000231130:p.Val444Ile	NA	B2R8P2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806788	0.16467	.	.	ENSG00000113205	ENST00000231130	T	0.01258	5.09	4.39	1.49	0.22878	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01061	0.0035	N	0.21324	0.655	0.26614	N	0.972776	B	0.20459	0.045	B	0.17098	0.017	T	0.45877	-0.9231	9	0.06625	T	0.88	.	7.9304	0.29899	0.1567:0.1339:0.7094:0.0	.	444	Q9Y5E6	PCDB3_HUMAN	I	444	ENSP00000231130:V444I	ENSP00000231130:V444I	V	+	1	0	PCDHB3	140461747	0.948000	0.32251	0.995000	0.50966	0.908000	0.53690	1.507000	0.35758	0.397000	0.25310	0.655000	0.94253	GTC	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251817.2		+	ENST00000231130.2	Missense_Mutation	SNP	5 : 140481563 - 140481563 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	564	40
PCDHGA1	56114	broad.mit.edu	37	5	140712177	140712177	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:140712177C>T	ENST00000517417.1	+	1	1926	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	PCDHGA1_ENST00000378105.3_Silent_p.L642L	NM_018912.2	NP_061735.1			protocadherin gamma subfamily A, 1	NA										breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGTCTCGTGGTGGCCG	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	46	44			NA	NA	5		NA											NA				140712177		2200	4297	6497	SO:0001819	synonymous_variant			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956	56114	56114		Cadherins / Protocadherins : Clustered	8696	other	protocadherin		606288			NA	10380929	Standard	NM_018912	NM_018912	NA	Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1926C>T	5.37:g.140712177C>T		NA		37	CCDS54922.1																																																																																			PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374737.1		+	ENST00000517417.1	Silent	SNP	5 : 140712177 - 140712177 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	370	38
PLEC	5339	broad.mit.edu	37	8	144994097	144994097	+	Missense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:144994097G>T	ENST00000322810.4	-	32	10472	c.10303C>A	c.(10303-10305)Ctg>Atg	p.L3435M	PLEC_ENST00000354958.2_Missense_Mutation_p.L3276M|PLEC_ENST00000398774.2_Missense_Mutation_p.L3266M|PLEC_ENST00000436759.2_Missense_Mutation_p.L3325M|PLEC_ENST00000356346.3_Missense_Mutation_p.L3284M|PLEC_ENST00000527096.1_Missense_Mutation_p.L3321M|PLEC_ENST00000345136.3_Missense_Mutation_p.L3298M|PLEC_ENST00000354589.3_Missense_Mutation_p.L3298M|PLEC_ENST00000357649.2_Missense_Mutation_p.L3302M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3435	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTGCCGCAGGGTCTCCACC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	67	64			NA	NA	8		NA											NA				144994097		2162	4256	6418	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10303C>A	8.37:g.144994097G>T	ENSP00000323856:p.Leu3435Met	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809766	0.16537	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76968	-1.02;-1.02;-1.06;-1.05;-1.04;-1.02;-1.02;-1.02;-1.02	4.81	-4.87	0.03123	.	1.138360	0.06912	U	0.807848	T	0.57636	0.2067	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.23591	0.088;0.088;0.088;0.053;0.088;0.088;0.088;0.088	B;B;B;B;B;B;B;B	0.29598	0.086;0.104;0.104;0.039;0.104;0.086;0.086;0.086	T	0.52200	-0.8607	10	0.52906	T	0.07	.	8.9149	0.35576	0.0:0.121:0.2943:0.5847	.	3325;3284;3276;3435;3266;3298;3302;3298	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	3298;3302;3298;3266;3435;3276;3284;3325;3321	ENSP00000344848:L3298M;ENSP00000350277:L3302M;ENSP00000346602:L3298M;ENSP00000381756:L3266M;ENSP00000323856:L3435M;ENSP00000347044:L3276M;ENSP00000348702:L3284M;ENSP00000388180:L3325M;ENSP00000434583:L3321M	ENSP00000323856:L3435M	L	-	1	2	PLEC	145066085	0.000000	0.05858	0.000000	0.03702	0.944000	0.59088	0.834000	0.27518	-0.457000	0.07033	0.448000	0.29417	CTG	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144994097 - 144994097 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	437	85
PTPN11	5781	broad.mit.edu	37	12	112926259	112926259	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:112926259C>T	ENST00000351677.2	+	12	1590	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	468	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTGGAATTGGCCGGACAGGGA	0.443		NA	Mis		JMML, AML, MDS		Noonan Syndrome		Noonan syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q24.1	5781	protein tyrosine phosphatase, non-receptor type 11	yes	L	0													122	111	115			NA	NA	12		NA											NA				112926259		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295	5781	5781		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor, SH2 domain containing	9644	protein-coding gene	gene with protein product		176876	Noonan syndrome 1	NS1	NA	7894486, 1280823	Standard		NM_080601	NA	Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1392C>T	12.37:g.112926259C>T		NA	A8K1D9|Q96HD7	37	CCDS9163.1																																																																																			PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000259496.2		+	ENST00000351677.2	Silent	SNP	12 : 112926259 - 112926259 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	359	5
PVRL1	5818	broad.mit.edu	37	11	119535865	119535865	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:119535865C>T	ENST00000264025.3	-	6	1676	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	382					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.R382R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGAAGGTGTGCCGGCGCCGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	kidney(1)											135	96	109			NA	NA	11		NA											NA				119535865		2199	4295	6494	SO:0001819	synonymous_variant			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400	5818	5818		CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9706	protein-coding gene	gene with protein product	nectin	600644		HVEC, ED4	NA	7721102, 9616127	Standard		NM_203285	NA	Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1146G>A	11.37:g.119535865C>T		NA	O75465|Q2M3D3|Q9HBE6|Q9HBW2	37	CCDS8426.1																																																																																			PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388231.1		-	ENST00000264025.3	Silent	SNP	11 : 119535865 - 119535865 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	434	5
PXDN	7837	broad.mit.edu	37	2	1643096	1643096	+	Missense_Mutation	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:1643096T>A	ENST00000252804.4	-	20	4101	c.4051A>T	c.(4051-4053)Aca>Tca	p.T1351S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1351					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTGGTCTTGTTTTCTTGGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	127	125			NA	NA	2		NA											NA				1643096		1982	4156	6138	SO:0001583	missense			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508	7837	7837		Immunoglobulin superfamily / I-set domain containing	14966	protein-coding gene	gene with protein product		605158			NA	10441517, 9039502	Standard	XM_056455	XM_005264707	NA	Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4051A>T	2.37:g.1643096T>A	ENSP00000252804:p.Thr1351Ser	NA	A8QM65|D6W4Y0|Q4KMG2	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	6.749	0.507109	0.12883	.	.	ENSG00000130508	ENST00000252804	T	0.59772	0.24	5.49	-5.44	0.02624	.	2.195000	0.01825	N	0.034285	T	0.28764	0.0713	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48636	-0.9018	10	0.02654	T	1	-4.7808	10.6794	0.45804	0.1126:0.5895:0.0:0.2979	.	1351	Q92626	PXDN_HUMAN	S	1351	ENSP00000252804:T1351S	ENSP00000252804:T1351S	T	-	1	0	PXDN	1622103	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-1.513000	0.02256	-1.322000	0.02278	0.383000	0.25322	ACA	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322505.1		-	ENST00000252804.4	Missense_Mutation	SNP	2 : 1643096 - 1643096 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	123	6
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	103	101			NA	NA	2		NA											NA				109371498		2198	4282	6480	SO:0001819	synonymous_variant			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201	5903	5903		Tetratricopeptide (TTC) repeat domain containing	9848	protein-coding gene	gene with protein product		601181	acute necrotizing encephalopathy 1 (autosomal dominant)	ANE1	NA	7724562, 19118815	Standard	NM_006267	NM_006267	NA	Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		NA	Q13074|Q15280|Q53TE2|Q59FH7	37	CCDS2079.1																																																																																			RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253594.1		+	ENST00000283195.6	Silent	SNP	2 : 109371498 - 109371498 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	1616	9
RASA1	5921	broad.mit.edu	37	5	86672813	86672813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:86672813C>A	ENST00000456692.2	+	17	1884	c.1769C>A	c.(1768-1770)tCg>tAg	p.S590*	CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S601*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.S767*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.S600*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	767	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGCTTGAATCGTTGTTGTTA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	142	146			NA	NA	5		NA											NA				86672813		2203	4300	6503	SO:0001587	stop_gained				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715	5921	5921		Pleckstrin homology (PH) domain containing, SH2 domain containing	9871	protein-coding gene	gene with protein product	capillary malformation-arteriovenous malformation	139150		RASA	NA	15917201	Standard	NM_002890	NM_022650	NA	Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000456692.2:c.1769C>A	5.37:g.86672813C>A	ENSP00000411221:p.Ser590*	NA	B2R6W3|Q9UDI1	37	CCDS47243.1	.	.	.	.	.	.	.	.	.	.	C	39	7.861260	0.98531	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.52	5.52	0.82312	.	0.056401	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.8119	0.96549	0.0:1.0:0.0:0.0	.	.	.	.	X	767;800;590;600;601	.	ENSP00000274376:S767X	S	+	2	0	RASA1	86708569	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.050000	0.71063	2.756000	0.94617	0.563000	0.77884	TCG	RASA1-002	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369730.1		+	ENST00000456692.2	Nonsense_Mutation	SNP	5 : 86672813 - 86672813 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	474	67
RYR3	6263	broad.mit.edu	37	15	34040439	34040439	+	Missense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:34040439G>T	ENST00000389232.4	+	54	8184	c.8114G>T	c.(8113-8115)cGa>cTa	p.R2705L	RYR3_ENST00000415757.3_Missense_Mutation_p.R2705L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2705Q(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAAGCTTCGAAGTGTGTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	large_intestine(2)											62	67	66			NA	NA	15		NA											NA				34040439		1954	4150	6104	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8114G>T	15.37:g.34040439G>T	ENSP00000373884:p.Arg2705Leu	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410408	0.83340	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96830	-4.14;-4.14	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	D	0.94155	0.8125	L	0.41492	1.28	0.58432	D	0.999992	B;B	0.32543	0.375;0.009	B;B	0.33392	0.163;0.018	D	0.93169	0.6564	10	0.49607	T	0.09	.	18.8778	0.92345	0.0:0.0:1.0:0.0	.	2705;2705	Q15413-2;Q15413	.;RYR3_HUMAN	L	2705	ENSP00000373884:R2705L;ENSP00000399610:R2705L	ENSP00000354735:R2705L	R	+	2	0	RYR3	31827731	1.000000	0.71417	0.991000	0.47740	0.897000	0.52465	7.158000	0.77470	2.679000	0.91253	0.655000	0.94253	CGA	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 34040439 - 34040439 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	172	16
SEMA3E	9723	broad.mit.edu	37	7	83029563	83029563	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:83029563C>T	ENST00000307792.3	-	11	1614	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A323T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	383	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACTTTGCTGGCACACTGAAAA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	123	126			NA	NA	7		NA											NA				83029563		2203	4300	6503	SO:0001583	missense			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381	9723	9723		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10727	protein-coding gene	gene with protein product	M-sema H	608166		SEMAH	NA	9205841, 9515811	Standard	NM_012431	NM_012431	NA	Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1147G>A	7.37:g.83029563C>T	ENSP00000303212:p.Ala383Thr	NA	Q75M94|Q75M97	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038932	0.75617	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.22945	1.93;1.93	5.52	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.58354	1.805	0.58432	D	0.999999	P	0.50617	0.937	P	0.56865	0.808	T	0.32693	-0.9897	10	0.49607	T	0.09	.	16.1726	0.81828	0.0:0.8664:0.1336:0.0	.	383	O15041	SEM3E_HUMAN	T	383;323;383	ENSP00000303212:A383T;ENSP00000405052:A323T	ENSP00000303212:A383T	A	-	1	0	SEMA3E	82867499	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.836000	0.48183	1.282000	0.44496	0.585000	0.79938	GCC	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336606.1		-	ENST00000307792.3	Missense_Mutation	SNP	7 : 83029563 - 83029563 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	390	56
SPPL3	121665	broad.mit.edu	37	12	121221520	121221522	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:121221520_121221522delGGA	ENST00000353487.2	-	5	847_849	c.344_346delTCC	c.(343-348)ctcccg>ccg	p.L115del		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	116						integral to membrane	aspartic-type endopeptidase activity				NA	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCACATCGGGAGGAGAAGAAA	0.325		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837	121665	121665			30424	protein-coding gene	gene with protein product	intramembrane protease 2, presenilin-like protein 4	608240			NA	12139484	Standard	NM_139015	NM_139015	NA	Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.344_346delTCC	12.37:g.121221523_121221525delGGA	ENSP00000288680:p.Leu115del	NA	Q8TAU4|Q96DD9	37	CCDS9208.1																																																																																			SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402980.2		-	ENST00000353487.2	In_Frame_Del	DEL	12 : 121221520 - 121221522 - PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	308	78
STEAP3	55240	broad.mit.edu	37	2	120005557	120005557	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:120005557G>A	ENST00000354888.5	+	4	1299	c.795G>A	c.(793-795)gtG>gtA	p.V265V	STEAP3_ENST00000393110.2_Silent_p.V275V|STEAP3_ENST00000450943.2_Silent_p.V265V|STEAP3_ENST00000409811.1_Silent_p.V265V|STEAP3_ENST00000393106.2_Silent_p.V265V|STEAP3_ENST00000393107.2_Silent_p.V265V|STEAP3_ENST00000425223.2_Silent_p.V265V|STEAP3_ENST00000393108.2_Silent_p.V265V|STEAP3-AS1_ENST00000454260.1_RNA	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	265	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGGCCTACGTGCTGCTGTCAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	82	83			NA	NA	2		NA											NA				120005557		2203	4300	6503	SO:0001819	synonymous_variant			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107	55240	55240			24592	protein-coding gene	gene with protein product		609671			NA	12606722	Standard	NM_018234	NM_182915	NA	Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.795G>A	2.37:g.120005557G>A		NA	A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	37	CCDS2125.1																																																																																			STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254193.1		+	ENST00000354888.5	Silent	SNP	2 : 120005557 - 120005557 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	385	7
STK40	83931	broad.mit.edu	37	1	36807372	36807372	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:36807372C>T	ENST00000373129.3	-	12	1698	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	STK40_ENST00000359297.2_3'UTR|STK40_ENST00000373132.3_Missense_Mutation_p.R431H|STK40_ENST00000373130.3_Missense_Mutation_p.R436H	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	431						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCGCAGGTAGCGCTGCGCCAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4406		0,0,2203	44	48	47		1292	4.3	1	1		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	STK40	NM_032017.1	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	431/436	36807372	1,13005	2203	4300	6503	SO:0001583	missense			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182	83931	83931			21373	protein-coding gene	gene with protein product		609437			NA		Standard	NM_032017	NM_032017	NA	Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.1292G>A	1.37:g.36807372C>T	ENSP00000362221:p.Arg431His	NA	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	37	CCDS407.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431035	0.62844	0.0	1.16E-4	ENSG00000196182	ENST00000373129;ENST00000373130;ENST00000373132	T;T;T	0.68765	-0.34;-0.35;-0.34	5.18	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	L	0.27053	0.805	0.49051	D	0.999748	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.964	T	0.73895	-0.3838	10	0.87932	D	0	-21.1861	12.6841	0.56938	0.0:0.9199:0.0:0.0801	.	436;431	Q8N2I9-4;Q8N2I9	.;STK40_HUMAN	H	431;436;431	ENSP00000362221:R431H;ENSP00000362222:R436H;ENSP00000362224:R431H	ENSP00000362221:R431H	R	-	2	0	STK40	36579959	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.378000	0.79679	1.177000	0.42855	0.563000	0.77884	CGC	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022592.1		-	ENST00000373129.3	Missense_Mutation	SNP	1 : 36807372 - 36807372 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	324	63
SYT2	127833	broad.mit.edu	37	1	202568444	202568444	+	Missense_Mutation	SNP	T	T	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:202568444T>G	ENST00000367267.1	-	8	1147	c.955A>C	c.(955-957)Aag>Cag	p.K319Q	SYT2_ENST00000367268.4_Missense_Mutation_p.K319Q	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	319	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTGAGCCTCTTGCCATTCTGC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													271	256	261			NA	NA	1		NA											NA				202568444		2203	4300	6503	SO:0001583	missense			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858	127833	127833		Synaptotagmins	11510	protein-coding gene	gene with protein product		600104			NA	7749232	Standard	NM_177402	NM_177402	NA	Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.955A>C	1.37:g.202568444T>G	ENSP00000356236:p.Lys319Gln	NA	Q496K5|Q8NBE5	37	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.881455	0.91740	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.72835	-0.69;-0.69	5.21	5.21	0.72293	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.102327	0.64402	D	0.000003	T	0.72977	0.3528	N	0.25060	0.705	0.80722	D	1	D	0.60575	0.988	D	0.63192	0.912	T	0.76971	-0.2761	10	0.66056	D	0.02	.	14.7397	0.69445	0.0:0.0:0.0:1.0	.	319	Q8N9I0	SYT2_HUMAN	Q	319	ENSP00000356237:K319Q;ENSP00000356236:K319Q	ENSP00000356236:K319Q	K	-	1	0	SYT2	200835067	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.897000	0.87356	1.957000	0.56846	0.460000	0.39030	AAG	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099157.1		-	ENST00000367267.1	Missense_Mutation	SNP	1 : 202568444 - 202568444 G PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	554	64
TFDP3	51270	broad.mit.edu	37	X	132351883	132351883	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:132351883G>A	ENST00000310125.4	-	1	493	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	135						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.G135G(1)|p.G75G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CGACCAGCTCGCCCACCACTT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	kidney(2)											83	77	79			NA	NA	X		NA											NA				132351883		2200	4298	6498	SO:0001819	synonymous_variant			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434	51270	51270			24603	protein-coding gene	gene with protein product	E2F-like protein, cancer/testis antigen 30	300772			NA	12097419	Standard	NM_016521	NM_016521	NA	Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.405C>T	X.37:g.132351883G>A		NA	Q6DK49|Q9NZ54	37	CCDS14636.2																																																																																			TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058337.1		-	ENST00000310125.4	Silent	SNP	X : 132351883 - 132351883 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	373	79
TIGD4	201798	broad.mit.edu	37	4	153691293	153691293	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:153691293C>T	ENST00000304337.2	-	2	1684	c.864G>A	c.(862-864)gaG>gaA	p.E288E		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	288	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGGAAAAGACTCAACAAAAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	135	133			NA	NA	4		NA											NA				153691293		2203	4299	6502	SO:0001819	synonymous_variant			AK058054	CCDS34079.1	4q31.23	2008-02-05					201798	201798			18335	protein-coding gene	gene with protein product					NA		Standard	NM_145720	NM_145720	NA	Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.864G>A	4.37:g.153691293C>T		NA	Q96LP5	37	CCDS34079.1																																																																																			TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365028.1		-	ENST00000304337.2	Silent	SNP	4 : 153691293 - 153691293 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	649	100
TLK2	11011	broad.mit.edu	37	17	60679418	60679418	+	Missense_Mutation	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:60679418T>A	ENST00000582809.1	+	20	1992	c.1289T>A	c.(1288-1290)gTa>gAa	p.V430E	TLK2_ENST00000326270.9_Missense_Mutation_p.V601E|TLK2_ENST00000346027.5_Missense_Mutation_p.V579E|TLK2_ENST00000542523.1_Missense_Mutation_p.V547E|TLK2_ENST00000343388.7_Missense_Mutation_p.V547E			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	601					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATTCTTTTAGTAAATGGTACA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	68			NA	NA	17		NA											NA				60679418		2203	4300	6503	SO:0001583	missense			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18					11011	11011			11842	protein-coding gene	gene with protein product		608439			NA	9427565, 10523312	Standard	NM_006852	NM_006852	NA	Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000582809.1:c.1289T>A	17.37:g.60679418T>A	ENSP00000463595:p.Val430Glu	NA	D3DU07|Q9UKI7|Q9Y4F7	37		.	.	.	.	.	.	.	.	.	.	T	14.56	2.573086	0.45902	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.78	5.78	0.91487	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	0.26085	0.0636	N	0.13235	0.315	0.80722	D	1	D;B;B;B	0.89917	1.0;0.34;0.126;0.071	D;B;B;B	0.83275	0.996;0.07;0.112;0.115	T	0.05451	-1.0884	10	0.06891	T	0.86	.	15.2878	0.73843	0.0:0.0:0.0:1.0	.	601;547;579;579	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	E	579;547;601;547	ENSP00000275780:V579E;ENSP00000340800:V547E;ENSP00000316512:V601E;ENSP00000442311:V547E	ENSP00000316512:V601E	V	+	2	0	TLK2	58033150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.201000	0.70794	0.459000	0.35465	GTA	TLK2-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000445133.1		+	ENST00000582809.1	Missense_Mutation	SNP	17 : 60679418 - 60679418 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	244	22
TLX2	3196	broad.mit.edu	37	2	74742813	74742813	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:74742813C>T	ENST00000233638.7	+	2	777	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CTACCAAAACCGGACCCCTCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(7;240 533 18610 24312)							NA				0													50	58	55			NA	NA	2		NA											NA				74742813		2203	4300	6503	SO:0001583	missense			AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297	3196	3196		Homeoboxes / ANTP class : NKL subclass	5057	protein-coding gene	gene with protein product		604240	homeo box 11-like 1, T-cell leukemia, homeobox 2	HOX11L1	NA	10343123	Standard		NM_016170	NA	Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.454C>T	2.37:g.74742813C>T	ENSP00000233638:p.Arg152Trp	NA	Q9UD56|Q9UQ48	37	CCDS1947.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191186	0.78902	.	.	ENSG00000115297	ENST00000233638	D	0.95756	-3.8	4.29	3.41	0.39046	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.47093	D	0.000253	D	0.97204	0.9086	M	0.80982	2.52	0.54753	D	0.999983	D	0.89917	1.0	D	0.76575	0.988	D	0.97145	0.9827	10	0.87932	D	0	.	11.3327	0.49485	0.1828:0.8172:0.0:0.0	.	152	O43763	TLX2_HUMAN	W	152	ENSP00000233638:R152W	ENSP00000233638:R152W	R	+	1	2	TLX2	74596321	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.778000	0.62368	1.015000	0.39444	-0.152000	0.13540	CGG	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252224.3		+	ENST00000233638.7	Missense_Mutation	SNP	2 : 74742813 - 74742813 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	410	63
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50			NA	NA	17		NA											NA				7578406		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.524G>A	17.37:g.7578406C>T	ENSP00000391127:p.Arg175His	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	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578406 - 7578406 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	360	69
UPK1B	7348	broad.mit.edu	37	3	118913171	118913171	+	Missense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:118913171G>T	ENST00000497685.1	+	5	627	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F	UPK1B_ENST00000264234.3_Missense_Mutation_p.V192F|UPK1B_ENST00000460625.1_Missense_Mutation_p.V184F			O75841	UPK1B_HUMAN	uroplakin 1B	192					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TCAATGCTGTGTTATGAACAA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	142	147			NA	NA	3		NA											NA				118913171		2203	4300	6503	SO:0001583	missense			AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638	7348	7348		Tetraspanins	12578	protein-coding gene	gene with protein product		602380		UPK1	NA	9935153, 9846985	Standard		NM_006952	NA	Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000497685.1:c.334G>T	3.37:g.118913171G>T	ENSP00000418972:p.Val112Phe	NA	O60753|Q9UIM2|Q9UNX6	37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.391863	0.83011	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000460625	D;D;D	0.87179	-2.22;-2.22;-2.22	5.92	5.04	0.67666	Tetraspanin, EC2 domain (1);	0.270923	0.31847	N	0.006975	D	0.87676	0.6237	L	0.43152	1.355	0.41114	D	0.985767	P;P	0.50369	0.934;0.846	P;P	0.53593	0.73;0.452	D	0.86504	0.1805	10	0.39692	T	0.17	-20.5718	14.2934	0.66295	0.0733:0.0:0.9267:0.0	.	184;192	C9J9M7;O75841	.;UPK1B_HUMAN	F	112;192;184	ENSP00000418972:V112F;ENSP00000264234:V192F;ENSP00000418116:V184F	ENSP00000264234:V192F	V	+	1	0	UPK1B	120395861	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.124000	0.57924	2.809000	0.96659	0.467000	0.42956	GTT	UPK1B-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354884.1		+	ENST00000497685.1	Missense_Mutation	SNP	3 : 118913171 - 118913171 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	483	82
USH2A	7399	broad.mit.edu	37	1	215987140	215987140	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:215987140C>T	ENST00000307340.3	-	49	10063	c.9677G>A	c.(9676-9678)cGa>cAa	p.R3226Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R3226Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3226					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTGTATTCGGCCACCACA	0.453		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	120	123			NA	NA	1		NA											NA				215987140		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9677G>A	1.37:g.215987140C>T	ENSP00000305941:p.Arg3226Gln	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656431	0.47467	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12255	2.71;2.7	5.8	1.02	0.19986	Fibronectin, type III (2);	0.228496	0.22457	U	0.059807	T	0.04318	0.0119	N	0.21240	0.645	0.09310	N	1	P	0.48503	0.911	B	0.31946	0.138	T	0.30621	-0.9972	10	0.08599	T	0.76	.	2.9934	0.05990	0.3129:0.3248:0.0:0.3623	.	3226	O75445	USH2A_HUMAN	Q	3226	ENSP00000305941:R3226Q;ENSP00000355910:R3226Q	ENSP00000305941:R3226Q	R	-	2	0	USH2A	214053763	0.340000	0.24792	0.341000	0.25589	0.810000	0.45777	0.862000	0.27899	0.596000	0.29794	-0.282000	0.10007	CGA	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 215987140 - 215987140 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	513	110
UTP20	27340	broad.mit.edu	37	12	101755761	101755761	+	Missense_Mutation	SNP	G	G	A	rs76643734	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:101755761G>A	ENST00000261637.4	+	44	5887	c.5713G>A	c.(5713-5715)Gtt>Att	p.V1905I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1905					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GACTTTCACCGTTCACATGCT	0.413		NA											G	3	0.0014	0.01	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	7e-04	SNP								NA				0								G	ILE/VAL	22,4384	27.2+/-55.0	0,22,2181	241	232	235		5713	5.1	0.9	12	dbSNP_131	235	0,8600		0,0,4300	yes	missense	UTP20	NM_014503.2	29	0,22,6481	AA,AG,GG	NA	0.0,0.4993,0.1692	benign	1905/2786	101755761	22,12984	2203	4300	6503	SO:0001583	missense			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800	27340	27340			17897	protein-coding gene	gene with protein product	down regulated in metastasis	612822			NA	9673349, 15590835, 12837249	Standard	NM_014503	NM_014503	NA	Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5713G>A	12.37:g.101755761G>A	ENSP00000261637:p.Val1905Ile	NA	Q9H3H4	37	CCDS9081.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	13.14	2.148199	0.37923	0.004993	0.0	ENSG00000120800	ENST00000261637	T	0.40225	1.04	6.03	5.05	0.67936	Armadillo-type fold (1);	0.179437	0.48767	D	0.000171	T	0.24392	0.0591	L	0.39633	1.23	0.48185	D	0.999606	B	0.26935	0.164	B	0.19148	0.024	T	0.03981	-1.0987	10	0.17832	T	0.49	-22.9366	13.7726	0.63036	0.099:0.0:0.901:0.0	.	1905	O75691	UTP20_HUMAN	I	1905	ENSP00000261637:V1905I	ENSP00000261637:V1905I	V	+	1	0	UTP20	100279892	1.000000	0.71417	0.860000	0.33809	0.458000	0.32498	4.835000	0.62781	2.854000	0.98071	0.655000	0.94253	GTT	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408242.1		+	ENST00000261637.4	Missense_Mutation	SNP	12 : 101755761 - 101755761 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	676	159
VWA2	340706	broad.mit.edu	37	10	116046089	116046089	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:116046089C>T	ENST00000392982.3	+	11	1639	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	VWA2_ENST00000603594.1_Silent_p.G463G			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	463	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGGTTGCGGGCCCAGCGCGTC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	63	66			NA	NA	10		NA											NA				116046089		2203	4299	6502	SO:0001819	synonymous_variant			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816	340706	340706			24709	protein-coding gene	gene with protein product					NA	15580307, 14506275	Standard	NM_198496	NM_001272046	NA	Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1389C>T	10.37:g.116046089C>T		NA	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	37																																																																																				VWA2-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000050456.3		+	ENST00000392982.3	Silent	SNP	10 : 116046089 - 116046089 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	342	44
WEE2	494551	broad.mit.edu	37	7	141418884	141418884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:141418884C>T	ENST00000397541.2	+	4	1004	c.598C>T	c.(598-600)Cga>Tga	p.R200*	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000495800.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	200					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATGTGTTTTACGAGAAACCAA	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	88	88			NA	NA	7		NA											NA				141418884		1797	4063	5860	SO:0001587	stop_gained			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102	494551	494551			19684	protein-coding gene	gene with protein product		614084			NA		Standard	NM_001105558	NM_001105558	NA	Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.598C>T	7.37:g.141418884C>T	ENSP00000380675:p.Arg200*	NA		37	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	40	8.074404	0.98640	.	.	ENSG00000214102	ENST00000397541	.	.	.	5.52	4.53E-4	0.14042	.	0.719074	0.11076	U	0.602382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8902	0.58068	0.3292:0.5127:0.1582:0.0	.	.	.	.	X	200	.	ENSP00000380675:R200X	R	+	1	2	WEE2	141065353	0.837000	0.29446	0.491000	0.27477	0.937000	0.57800	0.581000	0.23819	0.007000	0.14760	-1.367000	0.01198	CGA	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349091.1		+	ENST00000397541.2	Nonsense_Mutation	SNP	7 : 141418884 - 141418884 T PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	761	136
ZFHX4	79776	broad.mit.edu	37	8	77617904	77617904	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:77617904G>A	ENST00000521891.2	+	2	2029	c.1581G>A	c.(1579-1581)gcG>gcA	p.A527A	ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.A527A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	527						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTCGGCGACTGTTTCTG	0.433		NA								HNSCC(33;0.089)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	40	40			NA	NA	8		NA											NA				77617904		1963	4156	6119	SO:0001819	synonymous_variant				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656	79776	79776		Homeoboxes / ZF class	30939	protein-coding gene	gene with protein product		606940	zinc finger homeodomain 4		NA	10873665, 11935336	Standard	NM_024721	NM_024721	NA	Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1581G>A	8.37:g.77617904G>A		NA	Q18PS0|Q6ZN20	37	CCDS47878.2																																																																																			ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379197.2		+	ENST00000521891.2	Silent	SNP	8 : 77617904 - 77617904 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	304	29
ZNF622	90441	broad.mit.edu	37	5	16453182	16453182	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:16453182G>A	ENST00000308683.2	-	5	1372	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	416						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACGGCCTTCCGATTTTTGGCA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	77	77			NA	NA	5		NA											NA				16453182		2203	4300	6503	SO:0001583	missense			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545	90441	90441			30958	protein-coding gene	gene with protein product		608694			NA	11802789, 12645566	Standard	NM_033414	NM_033414	NA	Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1246C>T	5.37:g.16453182G>A	ENSP00000310042:p.Arg416Trp	NA		37	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739888	0.69304	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	3.8	0.43715	.	0.533295	0.20075	N	0.099768	T	0.41236	0.1150	M	0.63843	1.955	0.24481	N	0.994344	D	0.56968	0.978	B	0.40410	0.328	T	0.44329	-0.9335	9	0.72032	D	0.01	-6.7854	14.3331	0.66572	0.0:0.0:0.5622:0.4378	.	416	Q969S3	ZN622_HUMAN	W	416	.	ENSP00000310042:R416W	R	-	1	2	ZNF622	16506182	1.000000	0.71417	0.795000	0.32087	0.980000	0.70556	2.028000	0.41088	1.336000	0.45506	0.655000	0.94253	CGG	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207105.1		-	ENST00000308683.2	Missense_Mutation	SNP	5 : 16453182 - 16453182 A PAAD-TCGA-YH-A8SY-Tumor-SM-5PNOZ	508	9
