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
AARS2	57505	broad.mit.edu	37	6	44270894	44270894	+	Missense_Mutation	SNP	G	G	A	rs145436818	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:44270894G>A	ENST00000244571.4	-	16	2166	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	722					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.R722W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GATACCACCCGCACAGGGTCT	0.607		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)						G	TRP/ARG	11,4395	17.9+/-39.9	0,11,2192	56	56	56		2164	5.3	1	6	dbSNP_134	56	0,8600		0,0,4300	yes	missense	AARS2	NM_020745.2	101	0,11,6492	AA,AG,GG	NA	0.0,0.2497,0.0846	probably-damaging	722/986	44270894	11,12995	2203	4300	6503	SO:0001583	missense			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	57505	57505	6.1.1.7	Aminoacyl tRNA synthetases / Class II	21022	protein-coding gene	gene with protein product	alanine tRNA ligase 2, mitochondrial	612035	alanyl-tRNA synthetase like, alanyl-tRNA synthetase 2, mitochondrial (putative)	AARSL	NA	15779907, 21549344	Standard	NM_020745	NM_020745	NA	Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2164C>T	6.37:g.44270894G>A	ENSP00000244571:p.Arg722Trp	NA	A2RRN5|Q8N198|Q96D02|Q9ULF0	37	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236023	0.79800	0.002497	0.0	ENSG00000124608	ENST00000244571	T	0.73681	-0.77	5.26	5.26	0.73747	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91733	0.5398	10	0.87932	D	0	-39.3663	14.8879	0.70584	0.0:0.0:0.8479:0.1521	.	722	Q5JTZ9	SYAM_HUMAN	W	722	ENSP00000244571:R722W	ENSP00000244571:R722W	R	-	1	2	AARS2	44378872	1.000000	0.71417	0.992000	0.48379	0.786000	0.44442	3.161000	0.50747	2.733000	0.93635	0.655000	0.94253	CGG	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040741.2		-	ENST00000244571.4	Missense_Mutation	SNP	6 : 44270894 - 44270894 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	238	6
ABCA4	24	broad.mit.edu	37	1	94502769	94502769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:94502769C>A	ENST00000370225.3	-	25	3831	c.3745G>T	c.(3745-3747)Gag>Tag	p.E1249*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1249					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCCAGCTCTCTGAAAAGG	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	109	108			NA	NA	1		NA											NA				94502769		2203	4300	6503	SO:0001587	stop_gained			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691	24	24		ATP binding cassette transporters / subfamily A	34	protein-coding gene	gene with protein product	Stargardt disease	601691	ATP-binding cassette transporter, retinal-specific	STGD1, ABCR, RP19, STGD	NA	9490294	Standard	NM_000350	NM_000350	NA	Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3745G>T	1.37:g.94502769C>A	ENSP00000359245:p.Glu1249*	NA	O15112|O60438|O60915|Q4LE31	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	44	10.838638	0.99476	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	.	.	.	X	41;1249	.	ENSP00000359245:E1249X	E	-	1	0	ABCA4	94275357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.932000	0.70121	2.861000	0.98227	0.655000	0.94253	GAG	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029320.1		-	ENST00000370225.3	Nonsense_Mutation	SNP	1 : 94502769 - 94502769 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	474	9
ADAMTSL3	57188	broad.mit.edu	37	15	84694186	84694186	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:84694186C>T	ENST00000286744.5	+	27	4878	c.4654C>T	c.(4654-4656)Cgg>Tgg	p.R1552W	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1552W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1552						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCAGGGAACCGGGTAAAGCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	68	68			NA	NA	15		NA											NA				84694186		2203	4299	6502	SO:0001583	missense			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218	57188	57188		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	14633	protein-coding gene	gene with protein product		609199			NA	9628581, 10574462	Standard	NM_207517	NM_207517	NA	Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4654C>T	15.37:g.84694186C>T	ENSP00000286744:p.Arg1552Trp	NA	A1A566|A1A567|Q9ULI7	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055902	0.36277	.	.	ENSG00000156218	ENST00000286744	T	0.64085	-0.08	5.0	5.0	0.66597	.	0.922843	0.08979	N	0.866129	T	0.62804	0.2458	L	0.46819	1.47	0.80722	D	1	P;B	0.48764	0.915;0.206	P;B	0.45138	0.471;0.006	T	0.62431	-0.6856	10	0.66056	D	0.02	.	13.6677	0.62405	0.0:1.0:0.0:0.0	.	1552;1552	P82987-2;P82987	.;ATL3_HUMAN	W	1552	ENSP00000286744:R1552W	ENSP00000286744:R1552W	R	+	1	2	ADAMTSL3	82485190	1.000000	0.71417	0.998000	0.56505	0.246000	0.25737	4.108000	0.57817	2.580000	0.87095	0.655000	0.94253	CGG	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000304007.2		+	ENST00000286744.5	Missense_Mutation	SNP	15 : 84694186 - 84694186 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	114	26
ALG12	79087	broad.mit.edu	37	22	50298080	50298080	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:50298080G>A	ENST00000330817.6	-	8	1340	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	NA					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGTAGGCGGCATTCACCAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	59	61			NA	NA	22		NA											NA				50298080		2203	4300	6503	SO:0001583	missense			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	79087	79087	2.4.1.260	Dolichyl D-mannosyl phosphate dependent mannosyltransferases	19358	protein-coding gene	gene with protein product	dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase, dol-P-Man dependent alpha-1,6-mannosyltransferase	607144	asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase), asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)		NA	11983712	Standard	NM_024105	NM_024105	NA	Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1067C>T	22.37:g.50298080G>A	ENSP00000333813:p.Ala356Val	NA	A6PWM1|Q4KMH4|Q8NG10|Q96AA4	37	CCDS14081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.007|2.007	-0.428049|-0.428049	0.04701|0.04701	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000330817|ENST00000332276	T|.	0.58652|.	0.32|.	4.77|4.77	3.75|3.75	0.43078|0.43078	.|.	0.105493|.	0.64402|.	N|.	0.000005|.	T|T	0.55178|0.55178	0.1904|0.1904	L|L	0.31476|0.31476	0.935|0.935	0.46654|0.46654	D|D	0.999148|0.999148	B|.	0.14805|.	0.011|.	B|.	0.16289|.	0.015|.	T|T	0.59511|0.59511	-0.7441|-0.7441	10|6	0.08381|0.87932	T|D	0.77|0	-15.2675|-15.2675	12.3635|12.3635	0.55217|0.55217	0.0843:0.0:0.9156:0.0|0.0843:0.0:0.9156:0.0	.|.	356|.	Q9BV10|.	ALG12_HUMAN|.	V|S	356|2	ENSP00000333813:A356V|.	ENSP00000333813:A356V|ENSP00000329560:P2S	A|P	-|-	2|1	0|0	ALG12|ALG12	48684084|48684084	0.980000|0.980000	0.34600|0.34600	0.003000|0.003000	0.11579|0.11579	0.004000|0.004000	0.04260|0.04260	3.622000|3.622000	0.54217|0.54217	1.104000|1.104000	0.41587|0.41587	0.655000|0.655000	0.94253|0.94253	GCC|CCG	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317405.2		-	ENST00000330817.6	Missense_Mutation	SNP	22 : 50298080 - 50298080 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	290	5
ANKAR	150709	broad.mit.edu	37	2	190560943	190560943	+	Missense_Mutation	SNP	G	G	A	rs116405601	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:190560943G>A	ENST00000520309.1	+	7	1644	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H	ANKAR_ENST00000438402.2_Missense_Mutation_p.R519H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R519H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R283H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R448H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	519						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACATTTAGCCGTAAAACCTCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135	131	132		1556	5.3	1	2	dbSNP_132	132	0,8600		0,0,4300	no	missense	ANKAR	NM_144708.3	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	519/1435	190560943	1,13005	2203	4300	6503	SO:0001583	missense			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687	150709	150709		Ankyrin repeat domain containing, Armadillo repeat containing	26350	protein-coding gene	gene with protein product		609803			NA	15110750	Standard	NM_144708	NM_144708	NA	Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1556G>A	2.37:g.190560943G>A	ENSP00000427882:p.Arg519His	NA	Q3ZCS6|Q4G0M2|Q6ZU02	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605014	0.66445	2.27E-4	0.0	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.26	5.26	0.73747	.	0.258488	0.27996	N	0.017011	T	0.52805	0.1757	L	0.34521	1.04	0.46356	D	0.999003	.	.	.	.	.	.	T	0.54503	-0.8284	8	0.59425	D	0.04	-13.6005	17.6415	0.88138	0.0:0.0:1.0:0.0	.	.	.	.	H	519;519;519;448;283	ENSP00000427882:R519H;ENSP00000313513:R519H;ENSP00000397243:R519H;ENSP00000393043:R448H;ENSP00000281412:R283H	ENSP00000281412:R283H	R	+	2	0	ANKAR	190269188	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.017000	0.64047	2.456000	0.83038	0.557000	0.71058	CGT	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335045.3		+	ENST00000520309.1	Missense_Mutation	SNP	2 : 190560943 - 190560943 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	458	6
APPL2	55198	broad.mit.edu	37	12	105568136	105568136	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:105568136C>A	ENST00000258530.3	-	21	2176	c.1951G>T	c.(1951-1953)Gat>Tat	p.D651Y	APPL2_ENST00000546731.1_Missense_Mutation_p.D94Y|APPL2_ENST00000539978.2_Missense_Mutation_p.D608Y|APPL2_ENST00000551662.1_Missense_Mutation_p.D657Y	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	651					cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGATTTCCATCATCGTCATCT	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													236	191	207			NA	NA	12		NA											NA				105568136		2203	4300	6503	SO:0001583	missense			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044	55198	55198		Pleckstrin homology (PH) domain containing	18242	protein-coding gene	gene with protein product		606231			NA	11431708, 17030088	Standard	NM_018171	NM_001251904	NA	Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1951G>T	12.37:g.105568136C>A	ENSP00000258530:p.Asp651Tyr	NA	Q8N4R7|Q9NVL2	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165391	0.57476	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000546731;ENST00000551662;ENST00000553109	T;T;T	0.25749	2.59;1.78;2.36	5.93	5.04	0.67666	.	0.285633	0.39687	N	0.001298	T	0.21921	0.0528	N	0.24115	0.695	0.20307	N	0.999918	P;P	0.47253	0.892;0.828	B;B	0.43251	0.413;0.235	T	0.07558	-1.0766	10	0.72032	D	0.01	-12.4508	14.8676	0.70427	0.0:0.9316:0.0:0.0684	.	657;651	F8W1P5;Q8NEU8	.;DP13B_HUMAN	Y	651;608;94;657;182	ENSP00000258530:D651Y;ENSP00000444472:D608Y;ENSP00000446917:D657Y	ENSP00000258530:D651Y	D	-	1	0	APPL2	104092266	0.927000	0.31430	0.210000	0.23637	0.623000	0.37688	2.454000	0.44979	1.521000	0.48983	0.655000	0.94253	GAT	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406238.3		-	ENST00000258530.3	Missense_Mutation	SNP	12 : 105568136 - 105568136 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	206	4
AQP9	366	broad.mit.edu	37	15	58465314	58465314	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:58465314C>T	ENST00000558772.1	+	3	288	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	AQP9_ENST00000219919.4_Missense_Mutation_p.R96W|AQP9_ENST00000536493.1_Missense_Mutation_p.R96W|ALDH1A2_ENST00000558231.1_Intron			O43315	AQP9_HUMAN	aquaporin 9	96					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TCTCTTTGGACGGATGAAATG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													213	205	207			NA	NA	15		NA											NA				58465314		2192	4292	6484	SO:0001583	missense			AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569	366	366		Ion channels / Aquaporins	643	protein-coding gene	gene with protein product		602914			NA		Standard	NM_020980	NM_020980	NA	Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000558772.1:c.91C>T	15.37:g.58465314C>T	ENSP00000452673:p.Arg31Trp	NA	Q9NP32	37		.	.	.	.	.	.	.	.	.	.	C	18.83	3.707646	0.68615	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.86030	-2.06;-2.06	5.46	2.41	0.29592	Aquaporin-like (2);	0.070870	0.56097	D	0.000024	D	0.94712	0.8294	H	0.96996	3.92	0.48901	D	0.99972	D	0.89917	1.0	D	0.91635	0.999	D	0.95693	0.8742	10	0.87932	D	0	.	15.3605	0.74469	0.7595:0.2405:0.0:0.0	.	96	O43315	AQP9_HUMAN	W	96	ENSP00000219919:R96W;ENSP00000441390:R96W	ENSP00000219919:R96W	R	+	1	2	AQP9	56252606	0.997000	0.39634	0.998000	0.56505	0.902000	0.53008	2.277000	0.43417	0.337000	0.23665	-0.182000	0.12963	CGG	AQP9-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000416325.1		+	ENST00000558772.1	Missense_Mutation	SNP	15 : 58465314 - 58465314 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	805	14
ARID1B	57492	broad.mit.edu	37	6	157528080	157528080	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:157528080G>A	ENST00000346085.5	+	20	5806	c.5805G>A	c.(5803-5805)gcG>gcA	p.A1935A	ARID1B_ENST00000367148.1_Silent_p.A1975A|ARID1B_ENST00000350026.5_Silent_p.A1922A|ARID1B_ENST00000275248.4_Silent_p.A1917A	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					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)		GTACCATCGCGCACTGGCAGG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	110	110			NA	NA	6		NA											NA				157528080		2203	4296	6499	SO:0001819	synonymous_variant			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.5805G>A	6.37:g.157528080G>A		NA	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	37	CCDS55072.1																																																																																			ARID1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042827.3		+	ENST00000346085.5	Silent	SNP	6 : 157528080 - 157528080 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	508	6
BARHL2	343472	broad.mit.edu	37	1	91182781	91182781	+	Translation_Start_Site	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:91182781G>A	ENST00000370445.4	-	0	13					NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	NA						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCACTCCGCCGTTCAGCAGCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(199;3561 4100 22440)							NA				0													39	44	42			NA	NA	1		NA											NA				91182781		2202	4292	6494					AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032	343472	343472		Homeoboxes / ANTP class : NKL subclass	954	protein-coding gene	gene with protein product		605212	BarH (Drosophila)-like 2		NA		Standard		NM_020063	NA	Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:	1.37:g.91182781G>A		NA	A0AVP2|Q7Z4N7	37	CCDS730.1																																																																																			BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000027728.2		-	ENST00000370445.4	De_novo_Start_InFrame	SNP	1 : 91182781 - 91182781 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	352	5
BCKDHB	594	broad.mit.edu	37	6	80878728	80878728	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:80878728C>T	ENST00000320393.6	+	5	661	c.614C>T	c.(613-615)gCc>gTc	p.A205V	BCKDHB_ENST00000356489.5_Missense_Mutation_p.A205V|BCKDHB_ENST00000545529.1_Missense_Mutation_p.A205V|BCKDHB_ENST00000369760.4_Missense_Mutation_p.A205V	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	205					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCATTTTTTGCCCATTGCCCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	140	140			NA	NA	6		NA											NA				80878728		2203	4300	6503	SO:0001583	missense			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123	594	594			987	protein-coding gene	gene with protein product	maple syrup urine disease	248611			NA		Standard	NM_000056	NM_183050	NA	Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.614C>T	6.37:g.80878728C>T	ENSP00000318351:p.Ala205Val	NA		37	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654329	0.88056	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.21	5.21	0.72293	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	D	0.95098	0.8228	10	0.54805	T	0.06	-12.0783	17.8034	0.88595	0.0:1.0:0.0:0.0	.	205	P21953	ODBB_HUMAN	V	205;205;205;205;135	ENSP00000358775:A205V;ENSP00000318351:A205V;ENSP00000348880:A205V;ENSP00000443564:A205V	ENSP00000318351:A205V	A	+	2	0	BCKDHB	80935447	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.677000	0.68142	2.444000	0.82710	0.579000	0.79373	GCC	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043911.2		+	ENST00000320393.6	Missense_Mutation	SNP	6 : 80878728 - 80878728 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	413	5
BMP2	650	broad.mit.edu	37	20	6758933	6758933	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:6758933C>T	ENST00000378827.4	+	3	1607	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GAAAACAACCCGGAGATTCTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	49	47			NA	NA	20		NA											NA				6758933		2203	4300	6503	SO:0001583	missense				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845	650	650		Bone morphogenetic proteins, Endogenous ligands	1069	protein-coding gene	gene with protein product		112261		BMP2A	NA	2376592	Standard		NM_001200	NA	Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.388C>T	20.37:g.6758933C>T	ENSP00000368104:p.Arg130Trp	NA		37	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635820	0.47049	.	.	ENSG00000125845	ENST00000378827	T	0.65178	-0.14	5.86	5.86	0.93980	Transforming growth factor-beta, N-terminal (1);	0.053759	0.85682	D	0.000000	T	0.74928	0.3781	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.70040	-0.4981	10	0.37606	T	0.19	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	130	P12643	BMP2_HUMAN	W	130	ENSP00000368104:R130W	ENSP00000368104:R130W	R	+	1	2	BMP2	6706933	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.907000	0.63300	2.937000	0.99478	0.650000	0.86243	CGG	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077918.3		+	ENST00000378827.4	Missense_Mutation	SNP	20 : 6758933 - 6758933 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	323	18
C19orf55	0	broad.mit.edu	37	19	36253204	36253204	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:36253204G>T	ENST00000544099.1	+	5	553	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	C19orf55_ENST00000421853.2_Missense_Mutation_p.V64F|C19orf55_ENST00000537459.1_Missense_Mutation_p.V164F|C19orf55_ENST00000396908.4_Missense_Mutation_p.V164F|C19orf55_ENST00000536950.1_Missense_Mutation_p.V163F			Q2NL68	CS055_HUMAN		164										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTACTGCGGTCAACGTGAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	71	69			NA	NA	19		NA											NA				36253204		2025	4196	6221	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000544099.1:c.490G>T	19.37:g.36253204G>T	ENSP00000467267:p.Val164Phe	NA	Q8NDI3|Q8WWC8|Q96NL4	37		.	.	.	.	.	.	.	.	.	.	G	10.66	1.413686	0.25465	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.88	-1.07	0.09968	.	1.131890	0.06870	N	0.800665	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	B;B;B	0.31351	0.32;0.115;0.115	B;B;B	0.29267	0.086;0.1;0.1	T	0.22871	-1.0204	10	0.48119	T	0.1	-1.0686	6.7356	0.23407	0.5021:0.0:0.4979:0.0	.	164;163;164	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	F	78;164;163;79;78	ENSP00000394231:V78F;ENSP00000380116:V164F;ENSP00000301165:V163F;ENSP00000440357:V78F	ENSP00000301165:V163F	V	+	1	0	C19orf55	40945044	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.503000	0.22610	-0.106000	0.12110	-0.781000	0.03364	GTC	C19orf55-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000398160.2		+	ENST00000544099.1	Missense_Mutation	SNP	19 : 36253204 - 36253204 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	67	10
C1orf168	199920	broad.mit.edu	37	1	57224419	57224419	+	Silent	SNP	A	A	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:57224419A>C	ENST00000343433.6	-	6	1148	c.1068T>G	c.(1066-1068)acT>acG	p.T356T	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	356										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAACTTCATAAGTTGCTAAAG	0.318		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	49	49			NA	NA	1		NA											NA				57224419		2202	4295	6497	SO:0001819	synonymous_variant			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889	199920	199920			27295	protein-coding gene	gene with protein product					NA	14702039	Standard	NM_001004303	NM_001004303	NA	Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1068T>G	1.37:g.57224419A>C		NA	Q63HM3|Q6ZUY6	37	CCDS30729.1																																																																																			C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022751.2		-	ENST00000343433.6	Silent	SNP	1 : 57224419 - 57224419 C PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	136	31
CNTNAP5	129684	broad.mit.edu	37	2	125521591	125521591	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:125521591C>T	ENST00000431078.1	+	16	2761	c.2397C>T	c.(2395-2397)gcC>gcT	p.A799A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	799	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATACAGAAGCCTCTTACCTCC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	126	128			NA	NA	2		NA											NA				125521591		1854	4094	5948	SO:0001819	synonymous_variant			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052	129684	129684			18748	protein-coding gene	gene with protein product		610519			NA		Standard		NM_130773	NA	Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2397C>T	2.37:g.125521591C>T		NA	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	37	CCDS46401.1																																																																																			CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330864.3		+	ENST00000431078.1	Silent	SNP	2 : 125521591 - 125521591 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	359	5
CPN2	1370	broad.mit.edu	37	3	194062235	194062235	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:194062235G>A	ENST00000323830.3	-	2	1286	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CPN2_ENST00000429275.1_Silent_p.C399C	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	399	LRRCT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGTGGCAGTCGCACTGCCAGG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	78	77			NA	NA	3		NA											NA				194062235		2203	4300	6503	SO:0001819	synonymous_variant			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	1370	1370	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	carboxypeptidase N, polypeptide 2, 83kD	ACBP	NA	2378615, 9628828	Standard	NM_001080513	XM_005269280	NA	Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1197C>T	3.37:g.194062235G>A		NA	B2RPE7|Q86SU4|Q8N5V4	37	CCDS33920.1																																																																																			CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342856.2		-	ENST00000323830.3	Silent	SNP	3 : 194062235 - 194062235 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	321	70
CPSF3L	54973	broad.mit.edu	37	1	1256428	1256428	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:1256428G>A	ENST00000435064.1	-	2	156	c.74C>T	c.(73-75)gCg>gTg	p.A25V	CPSF3L_ENST00000545578.1_5'UTR|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A31V|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A25V	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	25						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATTCTTGCCCGCAATGGAGAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	110	115			NA	NA	1		NA											NA				1256428		2203	4299	6502	SO:0001583	missense			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054	54973	54973			26052	protein-coding gene	gene with protein product	integrator complex subunit 11	611354			NA	15684398, 16239144	Standard	NM_017871	NM_001256456	NA	Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.74C>T	1.37:g.1256428G>A	ENSP00000413493:p.Ala25Val	NA	Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282907	0.59867	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	T;T;T;T;T;T;T;T;T	0.79845	-1.31;0.92;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.8	1.7	0.24286	Beta-lactamase-like (2);	0.259540	0.38492	N	0.001676	D	0.82481	0.5046	L	0.58510	1.815	0.80722	D	1	P;P;D;P;P;B	0.67145	0.756;0.74;0.996;0.812;0.605;0.346	B;B;P;B;B;B	0.51487	0.222;0.22;0.671;0.217;0.131;0.099	D	0.83477	0.0062	10	0.72032	D	0.01	-18.2883	15.9488	0.79817	0.0:0.5284:0.4716:0.0	.	25;25;44;25;31;25	Q5TA45-3;C9J979;Q5TA51;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	V	25;37;25;31;25;25;31;72;26;85	ENSP00000413493:A25V;ENSP00000404886:A25V;ENSP00000445001:A31V;ENSP00000392848:A25V;ENSP00000411233:A25V;ENSP00000436743:A31V;ENSP00000432009:A72V;ENSP00000435772:A26V;ENSP00000436824:A85V	ENSP00000294579:A37V	A	-	2	0	CPSF3L	1246291	0.823000	0.29233	0.865000	0.33974	0.979000	0.70002	1.705000	0.37867	0.056000	0.16144	0.645000	0.84053	GCG	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000009360.2		-	ENST00000435064.1	Missense_Mutation	SNP	1 : 1256428 - 1256428 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	580	6
CRYGA	1418	broad.mit.edu	37	2	209025627	209025627	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:209025627C>T	ENST00000304502.4	-	3	445	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_014617.3	NP_055432.2			crystallin, gamma A	NA										endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCAGATACTGCCGCCCCCGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	89	87			NA	NA	2		NA											NA				209025627		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582	1418	1418			2408	protein-coding gene	gene with protein product	gamma crystallin 5	123660		CRYG1	NA		Standard	NM_014617	NM_014617	NA	Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.426G>A	2.37:g.209025627C>T		NA		37	CCDS33367.1																																																																																			CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337096.1		-	ENST00000304502.4	Silent	SNP	2 : 209025627 - 209025627 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	681	7
DENND4B	9909	broad.mit.edu	37	1	153916630	153916630	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:153916630C>A	ENST00000361217.4	-	2	639	c.221G>T	c.(220-222)gGc>gTc	p.G74V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	74	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGGTGGCCCCCAGCAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	43	41			NA	NA	1		NA											NA				153916630		1960	4151	6111	SO:0001583	missense			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837	9909	9909		DENN/MADD domain containing	29044	protein-coding gene	gene with protein product			KIAA0476	KIAA0476	NA	9455484, 12906859	Standard	XM_375806	NM_014856	NA	Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.221G>T	1.37:g.153916630C>A	ENSP00000354597:p.Gly74Val	NA	Q5T4K0	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869151	0.72065	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.26957	1.7;1.7	4.16	4.16	0.48862	MABP domain (1);	.	.	.	.	T	0.44973	0.1319	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51545	-0.8692	9	0.87932	D	0	-4.3181	15.7271	0.77770	0.0:1.0:0.0:0.0	.	74	O75064	DEN4B_HUMAN	V	74;85	ENSP00000354597:G74V;ENSP00000357635:G85V	ENSP00000354597:G74V	G	-	2	0	DENND4B	152183254	1.000000	0.71417	0.999000	0.59377	0.494000	0.33585	5.711000	0.68400	2.310000	0.77875	0.462000	0.41574	GGC	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090278.2		-	ENST00000361217.4	Missense_Mutation	SNP	1 : 153916630 - 153916630 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	194	9
ECE2	9718	broad.mit.edu	37	3	184009866	184009866	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:184009866G>A	ENST00000402825.3	+	19	2492	c.2492G>A	c.(2491-2493)cGc>cAc	p.R831H	ECE2_ENST00000357474.5_Missense_Mutation_p.R759H|ECE2_ENST00000404464.3_Missense_Mutation_p.R713H|ECE2_ENST00000359140.4_Missense_Mutation_p.R684H|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	831	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.R684H(1)|p.R759H(1)|p.R831H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTCGGTCCGCACACCAGAG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	breast(3)											37	38	38			NA	NA	3		NA											NA				184009866		2203	4299	6502	SO:0001583	missense			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194	9718	9718			13275	protein-coding gene	gene with protein product		610145			NA	11718899	Standard	NM_014693	NM_032331	NA	Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2492G>A	3.37:g.184009866G>A	ENSP00000384223:p.Arg831His	NA	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863047	0.91511	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.85	4.85	0.62838	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.964;1.0;1.0;1.0	B;D;D;D	0.75020	0.418;0.984;0.971;0.985	D	0.90975	0.4823	10	0.18276	T	0.48	-16.7804	15.5139	0.75806	0.0:0.0:1.0:0.0	.	713;759;684;831	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	H	831;684;713;759	ENSP00000384223:R831H;ENSP00000352052:R684H;ENSP00000385846:R713H;ENSP00000350066:R759H	ENSP00000350066:R759H	R	+	2	0	ECE2	185492560	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.925000	0.63425	2.515000	0.84797	0.491000	0.48974	CGC	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318874.3		+	ENST00000402825.3	Missense_Mutation	SNP	3 : 184009866 - 184009866 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	287	5
ELTD1	64123	broad.mit.edu	37	1	79387436	79387436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:79387436C>T	ENST00000370742.3	-	9	1182	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	112	114			NA	NA	1		NA											NA				79387436		1946	4138	6084	SO:0001587	stop_gained			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618	64123	64123		-, GPCR / Class B : Orphans	20822	protein-coding gene	gene with protein product					NA	11050079	Standard	NM_022159	NM_022159	NA	Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1119G>A	1.37:g.79387436C>T	ENSP00000359778:p.Trp373*	NA	B1AR71|Q5KU34	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540107	0.85917	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6784	0.95946	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	.	W	-	3	0	ELTD1	79160024	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	7.583000	0.82559	2.724000	0.93272	0.585000	0.79938	TGG	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026859.1		-	ENST00000370742.3	Nonsense_Mutation	SNP	1 : 79387436 - 79387436 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	333	51
EPHB4	2050	broad.mit.edu	37	7	100417815	100417815	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100417815G>A	ENST00000358173.3	-	5	1380	c.912C>T	c.(910-912)tgC>tgT	p.C304C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C304C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	304	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCCGACGCGGCACTGGCAGA	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(200;2113 3072 25865 52728)							NA				0													95	107	103			NA	NA	7		NA											NA				100417815		2203	4300	6503	SO:0001819	synonymous_variant			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411	2050	2050		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3395	protein-coding gene	gene with protein product		600011	EphB4	HTK	NA	8188704	Standard	NM_004444	NM_004444	NA	Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.912C>T	7.37:g.100417815G>A		NA	Q9BTA5|Q9BXP0	37	CCDS5706.1																																																																																			EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347222.1		-	ENST00000358173.3	Silent	SNP	7 : 100417815 - 100417815 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	807	6
FAM208B	54906	broad.mit.edu	37	10	5781711	5781711	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:5781711C>T	ENST00000328090.5	+	13	2203	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	526											NA						AAAACTCCATCGTCAACTATG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,3835		0,1,1917	124	115	118		1578	-3.3	0	10		118	0,8274		0,0,4137	no	coding-synonymous	FAM208B	NM_017782.4		0,1,6054	TT,TC,CC	NA	0.0,0.0261,0.0083		526/2431	5781711	1,12109	1918	4137	6055	SO:0001819	synonymous_variant			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1578C>T	10.37:g.5781711C>T		NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	6.800	0.516549	0.12944	2.61E-4	0.0	ENSG00000108021	ENST00000380270	.	.	.	5.59	-3.27	0.05048	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32428	-0.9907	4	.	.	.	.	6.1052	0.20069	0.0:0.3142:0.3456:0.3402	.	.	.	.	C	225	.	.	R	+	1	0	C10orf18	5821717	0.000000	0.05858	0.000000	0.03702	0.879000	0.50718	-0.651000	0.05372	-0.493000	0.06678	-0.573000	0.04149	CGT	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Silent	SNP	10 : 5781711 - 5781711 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	497	11
FANK1	92565	broad.mit.edu	37	10	127693473	127693473	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:127693473C>T	ENST00000368695.1	+	7	664	c.542C>T	c.(541-543)gCg>gTg	p.A181V	FANK1_ENST00000368693.1_Missense_Mutation_p.A187V|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	187						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCGTGCTATGCGGGACACCTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	143	146			NA	NA	10		NA											NA				127693473		2203	4300	6503	SO:0001583	missense			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780	92565	92565		Ankyrin repeat domain containing, Fibronectin type III domain containing	23527	protein-coding gene	gene with protein product		611640	fibronectin type 3 and ankyrin repeat domains 1		NA	12477932	Standard	NM_145235	NM_145235	NA	Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368695.1:c.542C>T	10.37:g.127693473C>T	ENSP00000357684:p.Ala181Val	NA	Q6UXY9|Q6X7T6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.80|15.80	2.941340|2.941340	0.53079|0.53079	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692|ENST00000456942	T;T;T|.	0.66638|.	-0.22;-0.22;0.63|.	5.79|5.79	2.86|2.86	0.33363|0.33363	Ankyrin repeat-containing domain (4);|.	0.159505|.	0.42294|.	D|.	0.000728|.	T|T	0.38719|0.38719	0.1051|0.1051	L|L	0.39147|0.39147	1.195|1.195	0.21184|0.21184	N|N	0.999761|0.999761	D;D;D|.	0.61697|.	0.99;0.977;0.963|.	P;P;P|.	0.49597|.	0.616;0.536;0.548|.	T|T	0.20505|0.20505	-1.0273|-1.0273	10|5	0.12430|.	T|.	0.62|.	-24.42|-24.42	11.0179|11.0179	0.47701|0.47701	0.2611:0.6132:0.1257:0.0|0.2611:0.6132:0.1257:0.0	.|.	213;187;187|.	Q8TC84-3;Q8TC84-2;Q8TC84|.	.;.;FANK1_HUMAN|.	V|W	181;187;165;213|82	ENSP00000357684:A181V;ENSP00000357682:A187V;ENSP00000357680:A165V|.	ENSP00000357680:A165V|.	A|R	+|+	2|1	0|2	FANK1|FANK1	127683463|127683463	0.783000|0.783000	0.28701|0.28701	0.176000|0.176000	0.23000|0.23000	0.753000|0.753000	0.42808|0.42808	1.267000|1.267000	0.33050|0.33050	0.332000|0.332000	0.23536|0.23536	-0.152000|-0.152000	0.13540|0.13540	GCG|CGG	FANK1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050950.1		+	ENST00000368695.1	Missense_Mutation	SNP	10 : 127693473 - 127693473 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	539	6
GNA11	2767	broad.mit.edu	37	19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677		NA	Mis		uveal melanoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		19	19p13.3	2767	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)		E	0													92	78	82			NA	NA	19		NA											NA				3114962		2203	4299	6502	SO:0001583	missense			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256	2767	2767			4379	protein-coding gene	gene with protein product		139313	hypocalciuric hypercalcemia 2	HHC2	NA	1302014, 23802516	Standard	NM_002067	NM_002067	NA	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.497G>A	19.37:g.3114962G>A	ENSP00000078429:p.Arg166His	NA	O15109|Q14350|Q6IB00	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757625	0.69648	.	.	ENSG00000088256	ENST00000078429	D	0.91996	-2.95	3.62	3.62	0.41486	G protein alpha subunit, helical insertion (2);	0.000000	0.64402	U	0.000002	D	0.97201	0.9085	H	0.96662	3.86	0.54753	D	0.999989	D	0.89917	1.0	D	0.73708	0.981	D	0.98413	1.0573	10	0.87932	D	0	.	14.2446	0.65981	0.0:0.0:1.0:0.0	.	166	P29992	GNA11_HUMAN	H	166	ENSP00000078429:R166H	ENSP00000078429:R166H	R	+	2	0	GNA11	3065962	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	9.626000	0.98410	1.752000	0.51891	0.556000	0.70494	CGC	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000452261.2		+	ENST00000078429.4	Missense_Mutation	SNP	19 : 3114962 - 3114962 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	557	6
GPR84	53831	broad.mit.edu	37	12	54756514	54756514	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:54756514G>A	ENST00000551809.1	-	1	1757	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Silent_p.N374N			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	374						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGAATTGGCGGTTCATGGCTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	173	167			NA	NA	12		NA											NA				54756514		2203	4300	6503	SO:0001819	synonymous_variant			AF237762	CCDS8878.1	12q13.13	2012-08-20					NA	53831		GPCR / Class A : Fatty acid receptors	4535	protein-coding gene	gene with protein product		606383			NA	11273702	Standard		NM_020370	NA	Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1122C>T	12.37:g.54756514G>A		NA	B6V9G7	37	CCDS8878.1																																																																																			GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406156.1		-	ENST00000551809.1	Silent	SNP	12 : 54756514 - 54756514 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	878	7
GPRC5C	55890	broad.mit.edu	37	17	72436919	72436919	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:72436919G>A	ENST00000481232.1	+	2	916				GPRC5C_ENST00000342648.5_Missense_Mutation_p.S20N|GPRC5C_ENST00000392629.2_Missense_Mutation_p.S347N|GPRC5C_ENST00000392627.1_Missense_Mutation_p.S380N			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	NA						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AAGGGTCAGAGCATGTTCGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	93	94			NA	NA	17		NA											NA				72436919		2203	4300	6503	SO:0001627	intron_variant			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412	NA	55890		GPCR / Class C : Orphans	13309	protein-coding gene	gene with protein product		605949	G protein-coupled receptor, family C, group 5, member C		NA	10945465	Standard		NM_022036	NA	Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.405+734G>A	17.37:g.72436919G>A		NA	B5BUN4|Q2NL85|Q9NZG5	37		.	.	.	.	.	.	.	.	.	.	G	11.15	1.552906	0.27739	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18657	2.2	5.42	5.42	0.78866	.	0.522318	0.24688	N	0.036404	T	0.17704	0.0425	N	0.21373	0.66	0.38149	D	0.938672	B;B;B	0.22800	0.045;0.045;0.075	B;B;B	0.22386	0.017;0.017;0.039	T	0.06826	-1.0805	10	0.33141	T	0.24	-17.489	18.2129	0.89876	0.0:0.0:1.0:0.0	.	335;335;347	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	N	335;380;46;347;335	ENSP00000376405:S347N	ENSP00000262616:S46N	S	+	2	0	GPRC5C	69948514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.785000	0.68998	2.549000	0.85964	0.561000	0.74099	AGC	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000145095.2		+	ENST00000481232.1	Intron	SNP	17 : 72436919 - 72436919 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	267	7
HAS3	3038	broad.mit.edu	37	16	69148379	69148379	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69148379G>A	ENST00000306560.1	+	4	1028	c.872G>A	c.(871-873)cGc>cAc	p.R291H	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R291H	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	291					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCATGTACCGCAACAGCCTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	94	98			NA	NA	16		NA											NA				69148379		2198	4300	6498	SO:0001583	missense			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	3038	3038	2.4.1.212	Glycosyltransferase family 2 domain containing	4820	protein-coding gene	gene with protein product		602428			NA	9169154, 9083017	Standard	NM_138612	NM_005329	NA	Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.872G>A	16.37:g.69148379G>A	ENSP00000304440:p.Arg291His	NA	A8K5T5|Q9NYP0	37	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780423	0.90195	.	.	ENSG00000103044	ENST00000306560	T	0.68765	-0.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	H	0.95402	3.665	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90677	0.4602	10	0.87932	D	0	-7.9931	19.1646	0.93551	0.0:0.0:1.0:0.0	.	291	O00219	HAS3_HUMAN	H	291	ENSP00000304440:R291H	ENSP00000304440:R291H	R	+	2	0	HAS3	67705880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.824000	0.97209	0.655000	0.94253	CGC	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268898.2		+	ENST00000306560.1	Missense_Mutation	SNP	16 : 69148379 - 69148379 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	406	5
IFFO1	25900	broad.mit.edu	37	12	6650735	6650735	+	Missense_Mutation	SNP	C	C	T	rs144197395		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6650735C>T	ENST00000465801.1	-	10	1164	c.605G>A	c.(604-606)cGc>cAc	p.R202H	IFFO1_ENST00000396840.2_Missense_Mutation_p.R506H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R510H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R509H|IFFO1_ENST00000436152.2_Missense_Mutation_p.R203H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	506						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTCCAGGCCGCGCTTCATGCT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	94	99		1529,1553,1526	5	1	12	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IFFO1	NM_001039670.2,NM_001193457.1,NM_080730.4	29,29,29	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	510/564,518/572,509/563	6650735	2,13004	2203	4300	6503	SO:0001583	missense			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295	25900	25900		Intermediate filament family orphans	24970	protein-coding gene	gene with protein product		610495	intermediate filament family orphan	IFFO	NA	8771189, 3052284	Standard	NM_080730	NM_001193457	NA	Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000465801.1:c.605G>A	12.37:g.6650735C>T	ENSP00000436261:p.Arg202His	NA	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.369195|5.369195	0.95900|0.95900	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000010295|ENSG00000010295	ENST00000416019|ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	.|T;T;T;T;T	.|0.13901	.|2.55;2.55;2.55;2.55;2.55	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.38108|0.38108	0.1028|0.1028	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.997;0.999;0.997;0.997;0.997;0.996	T|T	0.17930|0.17930	-1.0353|-1.0353	5|10	.|0.66056	.|D	.|0.02	-16.3948|-16.3948	18.3492|18.3492	0.90331|0.90331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|509;202;509;506;510;211	.|Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.|.;.;.;IFFO1_HUMAN;.;.	T|H	240|203;202;509;506;510;146	.|ENSP00000390721:R203H;ENSP00000436261:R202H;ENSP00000337593:R509H;ENSP00000380052:R506H;ENSP00000349364:R510H	.|ENSP00000337593:R509H	A|R	-|-	1|2	0|0	IFFO1|IFFO1	6520996|6520996	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.931000|0.931000	0.56810|0.56810	7.788000|7.788000	0.85771|0.85771	2.311000|2.311000	0.77944|0.77944	0.561000|0.561000	0.74099|0.74099	GCG|CGC	IFFO1-003	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000280423.2		-	ENST00000465801.1	Missense_Mutation	SNP	12 : 6650735 - 6650735 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	514	78
ISLR	3671	broad.mit.edu	37	15	74467397	74467397	+	Silent	SNP	G	G	A	rs145245668	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:74467397G>A	ENST00000249842.3	+	2	555	c.198G>A	c.(196-198)ccG>ccA	p.P66P	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P66P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	66					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAGGCTTGCCGGAGGGTGCCT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4396		0,0,2198	42	41	41		198,198	-8	0	15	dbSNP_134	41	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	ISLR	NM_005545.3,NM_201526.1	,	0,1,6494	AA,AG,GG	NA	0.0116,0.0,0.0077	,	66/429,66/429	74467397	1,12989	2198	4297	6495	SO:0001819	synonymous_variant			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009	3671	3671		Immunoglobulin superfamily / I-set domain containing	6133	protein-coding gene	gene with protein product		602059			NA	9325048	Standard	NM_005545	NM_005545	NA	Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.198G>A	15.37:g.74467397G>A		NA		37	CCDS10260.1																																																																																			ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269044.1		+	ENST00000249842.3	Silent	SNP	15 : 74467397 - 74467397 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	401	6
ITIH5	80760	broad.mit.edu	37	10	7618670	7618670	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:7618670C>T	ENST00000256861.6	-	10	1802	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ITIH5_ENST00000397146.2_Missense_Mutation_p.R575H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R361H|ITIH5_ENST00000446830.2_Missense_Mutation_p.R357H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R575H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	575					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCTCCAGAGACGCTCGATGTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	10		NA											NA				7618670		2203	4300	6503	SO:0001583	missense					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243	80760	80760			21449	protein-coding gene	gene with protein product		609783	inter-alpha (globulin) inhibitor H5		NA	14744536	Standard	NM_030569	NM_001001851	NA	Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1724G>A	10.37:g.7618670C>T	ENSP00000256861:p.Arg575His	NA	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.087754	0.76642	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	.	.	.	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.83697	0.0180	9	0.87932	D	0	-15.0301	19.1863	0.93645	0.0:1.0:0.0:0.0	.	575;575;361	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	575;575;361;357;575	ENSP00000256861:R575H;ENSP00000380333:R575H;ENSP00000298441:R361H;ENSP00000387969:R357H;ENSP00000380332:R575H	ENSP00000256861:R575H	R	-	2	0	ITIH5	7658676	1.000000	0.71417	0.987000	0.45799	0.196000	0.23810	5.335000	0.65929	2.516000	0.84829	0.462000	0.41574	CGT	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000046688.1		-	ENST00000256861.6	Missense_Mutation	SNP	10 : 7618670 - 7618670 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	266	52
JAKMIP3	282973	broad.mit.edu	37	10	133930823	133930823	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:133930823C>T	ENST00000298622.4	+	2	516	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3	NA										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCGTGATGGCGGCCCCGAAA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4317		0,1,2158	68	84	78		378	-1.9	0	10		78	0,8496		0,0,4248	no	coding-synonymous	JAKMIP3	NM_001105521.2		0,1,6406	TT,TC,CC	NA	0.0,0.0232,0.0078		126/845	133930823	1,12813	2159	4248	6407	SO:0001819	synonymous_variant			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385	282973	282973			23523	protein-coding gene	gene with protein product	neuroendocrine long coiled-coil 2	611198	chromosome 10 open reading frame 39, chromosome 10 open reading frame 14	C10orf39, C10orf14	NA	15277531, 17572408	Standard	NM_194303	NM_001105521	NA	Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.378C>T	10.37:g.133930823C>T		NA		37	CCDS44494.1																																																																																			JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051049.3		+	ENST00000298622.4	Silent	SNP	10 : 133930823 - 133930823 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	390	5
KAT6A	7994	broad.mit.edu	37	8	41794801	41794801	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:41794801C>T	ENST00000396930.3	-	17	3868	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	KAT6A_ENST00000265713.2_Missense_Mutation_p.E1109K|KAT6A_ENST00000406337.1_Missense_Mutation_p.E1109K	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1109					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding				NA						TCTTCATCTTCTTCTTCATCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	111	112			NA	NA	8		NA											NA				41794801		2203	4300	6503	SO:0001583	missense			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	7994	7994		Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing, Zinc fingers, PHD-type	13013	protein-coding gene	gene with protein product	Monocytic leukemia zinc finger protein	601408	runt-related transcription factor binding protein 2, MYST histone acetyltransferase (monocytic leukemia) 3	ZNF220, RUNXBP2, MYST3	NA	8849440, 8782817	Standard	NM_006766	NM_001099412	NA	Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3325G>A	8.37:g.41794801C>T	ENSP00000380136:p.Glu1109Lys	NA	Q76L81	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221713	0.58560	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.59224	0.28;0.28;0.28	5.63	5.63	0.86233	.	0.572288	0.16272	N	0.221734	T	0.47210	0.1433	L	0.34521	1.04	0.52099	D	0.999942	B	0.20780	0.048	B	0.18263	0.021	T	0.39078	-0.9631	10	0.09084	T	0.74	-1.715	17.8777	0.88830	0.0:1.0:0.0:0.0	.	1109	Q92794	KAT6A_HUMAN	K	1109;1109;1109;689	ENSP00000265713:E1109K;ENSP00000385888:E1109K;ENSP00000380136:E1109K	ENSP00000265713:E1109K	E	-	1	0	KAT6A	41913958	0.978000	0.34361	0.988000	0.46212	0.906000	0.53458	4.279000	0.58953	2.663000	0.90544	0.650000	0.86243	GAA	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318163.1		-	ENST00000396930.3	Missense_Mutation	SNP	8 : 41794801 - 41794801 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	295	56
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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-H8-A6C1-Tumor-SM-4WPAE	131	17
L3MBTL1	26013	broad.mit.edu	37	20	42161441	42161441	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:42161441G>A	ENST00000373135.3	+	9	1175	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.G416D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G348D|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.G416D|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.G348D	NM_015478.6	NP_056293.4	Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	348					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCCAGGTGGGCATGAAGCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	114	115			NA	NA	20		NA											NA				42161441		2203	4300	6503	SO:0001583	missense			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513	26013	26013		Zinc fingers, C2HC-type containing, Sterile alpha motif (SAM) domain containing	15905	protein-coding gene	gene with protein product	lethal (3) malignant brain tumor l(3)	608802	l(3)mbt (Drosophila)-like, l(3)mbt-like (Drosophila)	L3MBTL	NA	10445843, 17540172	Standard	NM_032107	NM_032107	NA	Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000373135.3:c.1043G>A	20.37:g.42161441G>A	ENSP00000362227:p.Gly348Asp	NA	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	37	CCDS13319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.269847|5.269847	0.95429|0.95429	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000445228|ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	.|T;T;T;T;T;T	.|0.72615	.|-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85383|0.85383	0.5684|0.5684	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.81914	.|0.995;0.985;0.995	D|D	0.87290|0.87290	0.2298|0.2298	5|10	.|0.87932	.|D	.|0	.|.	17.6309|17.6309	0.88108|0.88108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|416;348;348	.|Q9Y468-5;Q9Y468-2;Q9Y468-1	.|.;.;.	T|D	39|416;416;348;348;348;134	.|ENSP00000402107:G416D;ENSP00000398516:G416D;ENSP00000362227:G348D;ENSP00000403316:G348D;ENSP00000362226:G348D;ENSP00000410139:G134D	.|ENSP00000362226:G348D	A|G	+|+	1|2	0|0	L3MBTL1|L3MBTL1	41594855|41594855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.598000|9.598000	0.98277|0.98277	2.688000|2.688000	0.91661|0.91661	0.591000|0.591000	0.81541|0.81541	GCA|GGC	L3MBTL1-005	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079298.2		+	ENST00000373135.3	Missense_Mutation	SNP	20 : 42161441 - 42161441 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	859	6
LAMA2	3908	broad.mit.edu	37	6	129802516	129802516	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:129802516G>A	ENST00000421865.2	+	55	7730	c.7681G>A	c.(7681-7683)Ggc>Agc	p.G2561S	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2561	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATGAGTCCGGCATCATTCT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	147	150			NA	NA	6		NA											NA				129802516		2203	4300	6503	SO:0001583	missense			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	3908	3908		Laminins	6482	protein-coding gene	gene with protein product	merosin, congenital muscular dystrophy	156225		LAMM	NA	2185464, 8294519	Standard		NM_000426	NA	Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7681G>A	6.37:g.129802516G>A	ENSP00000400365:p.Gly2561Ser	NA	Q14736|Q5VUM2|Q93022	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383966	0.82792	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	D	0.89875	-2.58	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.94404	0.8200	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93996	0.7271	9	.	.	.	.	19.1509	0.93488	0.0:0.0:1.0:0.0	.	2562;2561	A6NF00;P24043	.;LAMA2_HUMAN	S	2561;2560;2561;579	ENSP00000400365:G2561S	.	G	+	1	0	LAMA2	129844209	1.000000	0.71417	0.982000	0.44146	0.337000	0.28794	9.278000	0.95766	2.599000	0.87857	0.563000	0.77884	GGC	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042180.1		+	ENST00000421865.2	Missense_Mutation	SNP	6 : 129802516 - 129802516 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	546	109
LAMB2	3913	broad.mit.edu	37	3	49168195	49168195	+	Silent	SNP	G	G	A	rs150731491		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:49168195G>A	ENST00000418109.1	-	9	1178	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	LAMB2_ENST00000305544.4_Silent_p.D338D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	338	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTATGGCCGTCCTCAGCCG	0.577		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	9e-04	SNP								NA				0								G		1,4405	2.1+/-5.4	0,1,2202	144	138	140		1014	-9	0.7	3	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	LAMB2	NM_002292.3		0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077		338/1799	49168195	1,13005	2203	4300	6503	SO:0001819	synonymous_variant				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037	3913	3913		Laminins	6487	protein-coding gene	gene with protein product	laminin S	150325		LAMS	NA	2922051, 10393422	Standard	NM_002292	NM_002292	NA	Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1014C>T	3.37:g.49168195G>A		NA	Q16321	37	CCDS2789.1																																																																																			LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345939.1		-	ENST00000418109.1	Silent	SNP	3 : 49168195 - 49168195 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	687	6
LIMD1	8994	broad.mit.edu	37	3	45637462	45637462	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:45637462C>T	ENST00000440097.1	+	1	1647	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V	LIMD1_ENST00000273317.4_Missense_Mutation_p.A364V|LIMD1_ENST00000465039.1_Intron			Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	364					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAGCAGGGTGCGGTCCCTGGG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	66	65	65		1091	-0.5	0	3		65	0,8600		0,0,4300	no	missense	LIMD1	NM_014240.2	64	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	benign	364/677	45637462	1,13005	2203	4300	6503	SO:0001583	missense			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791	8994	8994			6612	protein-coding gene	gene with protein product		604543			NA	10647888	Standard	NM_014240	NM_014240	NA	Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000440097.1:c.1091C>T	3.37:g.45637462C>T	ENSP00000394537:p.Ala364Val	NA	Q17RQ1|Q9BQQ9|Q9NQ47	37		.	.	.	.	.	.	.	.	.	.	C	4.329	0.060465	0.08339	2.27E-4	0.0	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.57907	0.37;0.57	4.51	-0.47	0.12131	.	1.995580	0.02416	N	0.082088	T	0.34687	0.0906	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09079	-1.0691	10	0.22109	T	0.4	.	5.4033	0.16308	0.0:0.4736:0.1363:0.3901	.	364	Q9UGP4	LIMD1_HUMAN	V	364	ENSP00000394537:A364V;ENSP00000273317:A364V	ENSP00000273317:A364V	A	+	2	0	LIMD1	45612466	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.016000	0.12613	-0.337000	0.08426	0.655000	0.94253	GCG	LIMD1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000345079.1		+	ENST00000440097.1	Missense_Mutation	SNP	3 : 45637462 - 45637462 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	266	5
LPHN2	23266	broad.mit.edu	37	1	82408793	82408793	+	Missense_Mutation	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:82408793A>G	ENST00000370728.1	+	8	1183	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	LPHN2_ENST00000394879.1_Missense_Mutation_p.T180A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T180A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T184A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T180A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370725.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370715.1_Missense_Mutation_p.T180A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T180A|LPHN2_ENST00000370717.2_Missense_Mutation_p.T180A|LPHN2_ENST00000370727.1_Missense_Mutation_p.T180A|LPHN2_ENST00000335786.5_Missense_Mutation_p.T180A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T180A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T180A			O95490	LPHN2_HUMAN	latrophilin 2	180	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCCTATCGTACCGATACTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	80	78			NA	NA	1		NA											NA				82408793		2202	4298	6500	SO:0001583	missense			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114	23266	23266		-, GPCR / Class B : Orphans	18582	protein-coding gene	gene with protein product		607018	latrophilin 1	LPHH1	NA	10760572	Standard	NM_012302	XR_248786	NA	Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.538A>G	1.37:g.82408793A>G	ENSP00000359763:p.Thr180Ala	NA	B1ALT8|B1ALT9|B1ALU0|O94882|Q5VX76|Q9UKY5|Q9UKY6	37		.	.	.	.	.	.	.	.	.	.	A	18.66	3.672334	0.67928	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.38;-0.48;-0.45;-0.4;-0.42;-0.38;-0.42;-0.43;-0.43;-0.42;-0.42;-0.38;-0.4;-0.45	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.991	D;P;P	0.66716	0.946;0.861;0.835	T	0.83271	-0.0043	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	180;180;180	O95490-3;O95490-4;O95490-2	.;.;.	A	184;180;180;180;180;180;180;180;180;180;180;180;180;180	ENSP00000359756:T184A;ENSP00000359763:T180A;ENSP00000359765:T180A;ENSP00000359762:T180A;ENSP00000359760:T180A;ENSP00000359758:T180A;ENSP00000353006:T180A;ENSP00000359750:T180A;ENSP00000359748:T180A;ENSP00000322270:T180A;ENSP00000359752:T180A;ENSP00000378344:T180A;ENSP00000271029:T180A;ENSP00000337306:T180A	ENSP00000271029:T180A	T	+	1	0	LPHN2	82181381	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	ACC	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000027188.1		+	ENST00000370728.1	Missense_Mutation	SNP	1 : 82408793 - 82408793 G PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	343	74
MAN2B1	4125	broad.mit.edu	37	19	12760241	12760241	+	Splice_Site	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12760241G>A	ENST00000456935.2	-	19	2309	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	MAN2B1_ENST00000221363.4_Splice_Site_p.R756W	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	757					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGATAATCCCGCCTGGGGTTG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	39	43			NA	NA	19		NA											NA				12760241		2203	4300	6503	SO:0001630	splice_region_variant				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	4125	4125	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB	NA		Standard		NM_000528	NA	Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2268-1C>T	19.37:g.12760241G>A		NA	O15330|Q16680|Q93094|Q9BW13	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562672	0.45694	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.84589	-1.87;-1.87	4.55	0.923	0.19413	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.873700	0.09327	N	0.817467	D	0.92893	0.7739	M	0.93062	3.375	0.33548	D	0.595735	D;D	0.89917	1.0;1.0	D;D	0.75484	0.926;0.986	D	0.88505	0.3085	10	0.72032	D	0.01	-30.2459	7.2715	0.26260	0.0:0.1649:0.3651:0.47	.	756;757	G5E928;O00754	.;MA2B1_HUMAN	W	757;696;756	ENSP00000395473:R757W;ENSP00000221363:R756W	ENSP00000221363:R756W	R	-	1	2	MAN2B1	12621241	1.000000	0.71417	0.950000	0.38849	0.337000	0.28794	2.679000	0.46909	0.113000	0.18004	0.561000	0.74099	CGG	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344062.1	Missense_Mutation	-	ENST00000456935.2	Splice_Site	SNP	19 : 12760241 - 12760241 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	142	23
MORC3	23515	broad.mit.edu	37	21	37741700	37741700	+	Silent	SNP	A	A	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:37741700A>T	ENST00000400485.1	+	15	2110	c.2034A>T	c.(2032-2034)atA>atT	p.I678I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	678					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGCAAAGATACATGAAACCC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	74	76			NA	NA	21		NA											NA				37741700		1934	4144	6078	SO:0001819	synonymous_variant			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256	23515	23515			23572	protein-coding gene	gene with protein product		610078	zinc finger, CW-type with coiled-coil domain 3, zinc finger, CW type with coiled-coil domain 3	ZCWCC3	NA	14607086	Standard	NM_015358	NM_015358	NA	Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2034A>T	21.37:g.37741700A>T		NA	A8KA92|Q9UEZ2	37	CCDS42924.1																																																																																			MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000194640.1		+	ENST00000400485.1	Silent	SNP	21 : 37741700 - 37741700 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	272	49
MSC	9242	broad.mit.edu	37	8	72754901	72754901	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:72754901C>T	ENST00000325509.4	-	2	905	c.616G>A	c.(616-618)Gct>Act	p.A206T	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	206					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A206T(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCGATTTAAGCGGTGGTTCCA	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(2)											380	380	380			NA	NA	8		NA											NA				72754901		1955	4138	6093	SO:0001583	missense				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860	9242	9242		Basic helix-loop-helix proteins	7321	protein-coding gene	gene with protein product	activated B-cell factor-1	603628	musculin (activated B-cell factor-1)		NA	9584154, 10198176	Standard	NM_005098	NM_005098	NA	Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.616G>A	8.37:g.72754901C>T	ENSP00000321445:p.Ala206Thr	NA	O75946|Q53XZ2|Q9BRE7	37	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491239	0.96339	.	.	ENSG00000178860	ENST00000325509	D	0.98400	-4.91	4.88	4.88	0.63580	.	0.695786	0.13008	N	0.421069	D	0.98245	0.9419	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98863	1.0763	10	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	206	O60682	MUSC_HUMAN	T	206	ENSP00000321445:A206T	ENSP00000321445:A206T	A	-	1	0	MSC	72917455	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	6.805000	0.75191	2.559000	0.86315	0.462000	0.41574	GCT	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378974.1		-	ENST00000325509.4	Missense_Mutation	SNP	8 : 72754901 - 72754901 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	1971	395
MYOM3	127294	broad.mit.edu	37	1	24418739	24418739	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:24418739C>T	ENST00000374434.3	-	11	1319	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.R387K|MYOM3_ENST00000329601.7_Missense_Mutation_p.R386K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	386	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GAGGCAGTCTCTGTTCACATC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	59	57			NA	NA	1		NA											NA				24418739		1951	4135	6086	SO:0001583	missense			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661	127294	127294		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	26679	protein-coding gene	gene with protein product			myomesin family, member 3		NA	18177667	Standard	NM_152372	NM_152372	NA	Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1157G>A	1.37:g.24418739C>T	ENSP00000363557:p.Arg386Lys	NA	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404156	0.42613	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56275	0.47;0.47;0.47	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.186233	0.52532	D	0.000063	T	0.27832	0.0685	N	0.04959	-0.14	0.26320	N	0.977686	B;B;B	0.23854	0.015;0.026;0.092	B;B;B	0.31101	0.124;0.035;0.045	T	0.29336	-1.0015	10	0.06625	T	0.88	.	8.5872	0.33666	0.0:0.8697:0.0:0.1303	.	43;386;386	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	K	386;387;386	ENSP00000363557:R386K;ENSP00000332670:R387K;ENSP00000328415:R386K	ENSP00000328415:R386K	R	-	2	0	MYOM3	24291326	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.132000	0.31418	2.601000	0.87937	0.563000	0.77884	AGA	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008272.2		-	ENST00000374434.3	Missense_Mutation	SNP	1 : 24418739 - 24418739 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	541	8
NARS2	79731	broad.mit.edu	37	11	78180334	78180334	+	Missense_Mutation	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:78180334T>G	ENST00000528850.1	-	10	1240	c.304A>C	c.(304-306)Atc>Ctc	p.I102L	NARS2_ENST00000281038.5_Missense_Mutation_p.I329L			Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	329					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGCTTTAAGATCTCCACTGCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	112	115			NA	NA	11		NA											NA				78180334		2200	4292	6492	SO:0001583	missense			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	79731	79731	6.1.1.22	Aminoacyl tRNA synthetases / Class II	26274	protein-coding gene	gene with protein product	asparagine tRNA ligase 2, mitochondrial (putative)	612803			NA	15779907	Standard	NM_024678	NM_024678	NA	Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000528850.1:c.304A>C	11.37:g.78180334T>G	ENSP00000432635:p.Ile102Leu	NA		37	CCDS58164.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747435	0.49257	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	T;T	0.79033	-1.23;-1.23	5.49	5.49	0.81192	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.094278	0.64402	D	0.000001	T	0.64864	0.2637	N	0.21373	0.66	0.58432	D	0.999997	B	0.29378	0.243	B	0.32724	0.151	T	0.62562	-0.6828	10	0.32370	T	0.25	-16.1391	9.6183	0.39706	0.0:0.0804:0.0:0.9196	.	329	Q96I59	SYNM_HUMAN	L	329;102	ENSP00000281038:I329L;ENSP00000432635:I102L	ENSP00000281038:I329L	I	-	1	0	NARS2	77857982	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.419000	0.52728	2.304000	0.77564	0.528000	0.53228	ATC	NARS2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391139.1		-	ENST00000528850.1	Missense_Mutation	SNP	11 : 78180334 - 78180334 G PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	308	52
NLRP2	55655	broad.mit.edu	37	19	55494005	55494005	+	Silent	SNP	G	G	A	rs61735080	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:55494005G>A	ENST00000543010.1	+	6	1082	c.939G>A	c.(937-939)ccG>ccA	p.P313P	NLRP2_ENST00000391721.4_Silent_p.P289P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000427260.2_Silent_p.P290P|NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000339757.7_Silent_p.P291P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	313	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGAAGCCGGTGCCCGTCC	0.632		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	48	45	46		939,873,870,939	-3.1	0	19	dbSNP_129	46	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,9,6494	AA,AG,GG	NA	0.093,0.0227,0.0692	,,,	313/1063,291/1041,290/1040,313/1063	55494005	9,12997	2203	4300	6503	SO:0001819	synonymous_variant			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	55655	55655		Nucleotide-binding domain and leucine rich repeat containing	22948	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2	609364	NACHT, leucine rich repeat and PYD containing 2	NALP2	NA	12563287, 11270363	Standard	NM_017852	NM_001174081	NA	Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.939G>A	19.37:g.55494005G>A		NA	Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	37	CCDS12913.1																																																																																			NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396152.1		+	ENST00000543010.1	Silent	SNP	19 : 55494005 - 55494005 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	390	80
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													95	89	91			NA	NA	16		NA											NA				4516232		2197	4300	6497	SO:0001583	missense			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406	57407	57407		Short chain dehydrogenase/reductase superfamily / Atypical members	24987	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 48A, member 1				NA	19027726	Standard	NM_020677	NM_020677	NA	Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.451C>T	16.37:g.4516232G>A	ENSP00000458762:p.Arg151Trp	NA		37	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804190	0.70682	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.48836	0.8;0.8	5.84	3.85	0.44370	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.64402	D	0.000005	T	0.64316	0.2587	M	0.68952	2.095	0.47862	D	0.999539	D	0.89917	1.0	D	0.97110	1.0	T	0.62034	-0.6939	10	0.35671	T	0.21	-32.0395	12.9284	0.58272	0.0:0.0:0.7042:0.2958	.	151	Q9HBL8	NMRL1_HUMAN	W	151	ENSP00000283429:R151W;ENSP00000383962:R151W	ENSP00000283429:R151W	R	-	1	2	NMRAL1	4456233	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.199000	0.51043	0.786000	0.33708	-0.309000	0.09137	CGG	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438579.1		-	ENST00000574733.1	Missense_Mutation	SNP	16 : 4516232 - 4516232 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	299	5
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69752046C>T	ENST00000379047.3	-	3	511	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000320623.5_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T	NM_001025433.1	NP_001020604.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	ACAAGGTCTGCGGCTTCCAGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	182	180			NA	NA	16		NA											NA				69752046		2198	4300	6498	SO:0001583	missense			M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1728	1728	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	diaphorase (NADH/NADPH) (cytochrome b-5 reductase)	NMOR1, DIA4	NA	2843525	Standard		NM_001286137	NA	Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000379047.3:c.283G>A	16.37:g.69752046C>T	ENSP00000368335:p.Ala95Thr	NA	B2R5Y9|Q86UK1	37	CCDS32472.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531448	0.96446	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.03	5.08	0.68730	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.996;0.999	T	0.64960	-0.6284	9	.	.	.	-7.291	15.2408	0.73468	0.0:0.9322:0.0:0.0678	.	95;95;95;95	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	T	95	ENSP00000319788:A95T;ENSP00000368335:A95T;ENSP00000368334:A95T;ENSP00000398330:A95T	.	A	-	1	0	NQO1	68309547	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.380000	0.66202	1.562000	0.49601	0.655000	0.94253	GCA	NQO1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268957.2		-	ENST00000379047.3	Missense_Mutation	SNP	16 : 69752046 - 69752046 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	1045	7
NRP2	8828	broad.mit.edu	37	2	206610562	206610562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:206610562G>A	ENST00000360409.3	+	10	2525	c.1734G>A	c.(1732-1734)tgG>tgA	p.W578*	NRP2_ENST00000412873.2_Nonsense_Mutation_p.W578*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.W578*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W578*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W578*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	578	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGGAGAGGTGGTCGCCGGCGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	75	77			NA	NA	2		NA											NA				206610562		2203	4300	6503	SO:0001587	stop_gained			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257	8828	8828			8005	protein-coding gene	gene with protein product		602070			NA	9529250, 9331348	Standard		NM_003872	NA	Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000360409.3:c.1734G>A	2.37:g.206610562G>A	ENSP00000353582:p.Trp578*	NA	O14820|O14821|Q53TQ4|Q53TS3|Q9H2D4|Q9H2D5|Q9H2E3|Q9H2E4	37	CCDS2364.1	.	.	.	.	.	.	.	.	.	.	G	45	11.386633	0.99554	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0155	19.648	0.95790	0.0:0.0:1.0:0.0	.	.	.	.	X	578	.	ENSP00000272849:W578X	W	+	3	0	NRP2	206318807	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.886000	0.87288	2.637000	0.89404	0.655000	0.94253	TGG	NRP2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256392.1		+	ENST00000360409.3	Nonsense_Mutation	SNP	2 : 206610562 - 206610562 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	281	65
P4HA3	283208	broad.mit.edu	37	11	74013557	74013557	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:74013557G>A	ENST00000331597.4	-	3	469	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	P4HA3_ENST00000427714.2_Missense_Mutation_p.R142W	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	142						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCCTGCAGCCGCATCAGGGCC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	109	110			NA	NA	11		NA											NA				74013557		2200	4293	6493	SO:0001583	missense			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380	283208	283208			30135	protein-coding gene	gene with protein product	collagen prolyl 4-hydroxylase alpha(III)	608987	procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III		NA	14500733	Standard	NM_182904	XM_005273924	NA	Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.424C>T	11.37:g.74013557G>A	ENSP00000332170:p.Arg142Trp	NA	A0AV13|Q5EBL3|Q5JPA9	37	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799253	0.70567	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.69926	-0.26;-0.44	4.96	3.02	0.34903	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	M	0.87547	2.89	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.83460	0.0053	10	0.87932	D	0	-23.6292	11.0144	0.47681	0.0:0.0:0.5057:0.4943	.	142;142	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	W	142	ENSP00000332170:R142W;ENSP00000401749:R142W	ENSP00000332170:R142W	R	-	1	2	P4HA3	73691205	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.407000	0.21049	0.746000	0.32786	0.563000	0.77884	CGG	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382988.1		-	ENST00000331597.4	Missense_Mutation	SNP	11 : 74013557 - 74013557 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	598	7
PCDH15	65217	broad.mit.edu	37	10	55944926	55944926	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:55944926C>T	ENST00000373965.2	-	13	1823	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	PCDH15_ENST00000414778.1_Missense_Mutation_p.D475N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D477N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D470N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D448N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D448N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D470N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D470N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D81N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D433N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	470	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTCCCTGTCCACTGGTTGA	0.398		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	153	163			NA	NA	10		NA											NA				55944926		2203	4300	6503	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.1429G>A	10.37:g.55944926C>T	ENSP00000363076:p.Asp477Asn	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.869901	0.91587	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76578	-0.42;-0.04;-0.04;-1.03;-0.42;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85150	0.5631	L	0.51422	1.61	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.89917	0.999;1.0;1.0;0.988;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.907;0.924;0.999	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.97110	0.999;1.0;1.0;0.983;1.0;1.0;0.999;1.0;0.999;1.0;1.0;0.997;0.801;0.649;0.99	D	0.85509	0.1196	9	0.51188	T	0.08	.	17.3285	0.87256	0.0:1.0:0.0:0.0	.	448;470;470;475;470;433;470;470;477;477;470;475;470;448;470	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	477;475;470;470;81;477;470;433;470;448;448;470;470;475;470;470	ENSP00000363076:D477N;ENSP00000410304:D475N;ENSP00000378826:D470N;ENSP00000386693:D81N;ENSP00000378832:D477N;ENSP00000378833:D470N;ENSP00000378820:D433N;ENSP00000354950:D470N;ENSP00000378821:D448N;ENSP00000363068:D448N;ENSP00000322604:D470N;ENSP00000378818:D470N;ENSP00000412628:D470N;ENSP00000363066:D470N	ENSP00000322604:D470N	D	-	1	0	PCDH15	55614932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.273000	0.78527	2.465000	0.83290	0.591000	0.81541	GAC	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55944926 - 55944926 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	338	60
PCDHA9	9752	broad.mit.edu	37	5	140228551	140228551	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140228551G>A	ENST00000532602.1	+	1	1504	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A157A|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1			protocadherin alpha 9	NA										breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGGGCGCGTCCGATGCAG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(55;1800 1972 14909)							NA				0													43	41	41			NA	NA	5		NA											NA				140228551		2197	4279	6476	SO:0001819	synonymous_variant			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	9752	9752		Cadherins / Protocadherins : Clustered	8675	other	complex locus constituent	KIAA0345-like 5	606315			NA	10380929	Standard	NM_031857	NM_031857	NA	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.471G>A	5.37:g.140228551G>A		NA		37	CCDS54920.1																																																																																			PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372896.2		+	ENST00000532602.1	Silent	SNP	5 : 140228551 - 140228551 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	639	84
PCDHGA10	56106	broad.mit.edu	37	5	140793857	140793857	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140793857T>C	ENST00000398610.2	+	1	1115	c.1115T>C	c.(1114-1116)cTt>cCt	p.L372P	PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			protocadherin gamma subfamily A, 10	NA										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGTAGCCCTTTTAAATGTG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	68	69			NA	NA	5		NA											NA				140793857		1912	4120	6032	SO:0001583	missense				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846	56106	56106		Cadherins / Protocadherins : Clustered	8697	other	protocadherin		606297			NA	10380929	Standard	NM_018913	NM_018913	NA	Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1115T>C	5.37:g.140793857T>C	ENSP00000381611:p.Leu372Pro	NA		37	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	t	16.19	3.053234	0.55218	.	.	ENSG00000253846	ENST00000398610	T	0.52754	0.65	5.18	5.18	0.71444	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.78786	0.4338	H	0.96691	3.865	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	D	0.86326	0.1695	9	0.87932	D	0	.	14.7125	0.69244	0.0:0.0:0.0:1.0	.	372;372	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	P	372	ENSP00000381611:L372P	ENSP00000381611:L372P	L	+	2	0	PCDHGA10	140774041	0.873000	0.30073	0.996000	0.52242	0.668000	0.39293	5.180000	0.65048	1.949000	0.56562	0.528000	0.53228	CTT	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374747.1		+	ENST00000398610.2	Missense_Mutation	SNP	5 : 140793857 - 140793857 C PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	163	4
PCDHGB3	56102	broad.mit.edu	37	5	140751055	140751055	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140751055C>T	ENST00000576222.1	+	1	1225	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			protocadherin gamma subfamily B, 3	NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGACTGCCGTTGCCCTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	42	42			NA	NA	5		NA											NA				140751055		1926	4142	6068	SO:0001583	missense			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26					56102	56102		Cadherins / Protocadherins : Clustered	8710	other	protocadherin		606301			NA	10380929	Standard	NM_018924	NM_018924	NA	Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1094C>T	5.37:g.140751055C>T	ENSP00000461862:p.Ala365Val	NA		37	CCDS58980.1																																																																																			PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000437094.1		+	ENST00000576222.1	Missense_Mutation	SNP	5 : 140751055 - 140751055 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	149	6
PRKG2	5593	broad.mit.edu	37	4	82126039	82126039	+	Missense_Mutation	SNP	G	G	A	rs138293539		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:82126039G>A	ENST00000395578.1	-	2	279	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PRKG2_ENST00000264399.1_Missense_Mutation_p.R55W|PRKG2_ENST00000418486.2_Missense_Mutation_p.R55W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	55					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGCTGCTCCCGCAGCTCCTTC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG	0,4406		0,0,2203	110	109	109		163	3.3	1	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRKG2	NM_006259.1	101	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	possibly-damaging	55/763	82126039	2,13004	2203	4300	6503	SO:0001583	missense			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	5593	5593	2.7.11.1		9416	protein-coding gene	gene with protein product		601591			NA	7498513	Standard	NM_006259	XM_005263126	NA	Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.163C>T	4.37:g.82126039G>A	ENSP00000378945:p.Arg55Trp	NA	O00125|O60916	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843526	0.51057	0.0	2.33E-4	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.83163	-1.69;-1.69;-1.69	5.1	3.3	0.37823	.	0.121430	0.56097	D	0.000029	T	0.67627	0.2913	N	0.08118	0	0.80722	D	1	P;D	0.53151	0.914;0.958	B;B	0.40741	0.339;0.339	T	0.72763	-0.4195	10	0.87932	D	0	-18.0268	13.5445	0.61695	0.0:0.0:0.7159:0.2841	.	55;55	E7EPE6;Q13237	.;KGP2_HUMAN	W	55	ENSP00000378945:R55W;ENSP00000264399:R55W;ENSP00000389038:R55W	ENSP00000264399:R55W	R	-	1	2	PRKG2	82345063	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	3.159000	0.50731	0.678000	0.31325	0.585000	0.79938	CGG	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252639.1		-	ENST00000395578.1	Missense_Mutation	SNP	4 : 82126039 - 82126039 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	506	5
RBFOX1	54715	broad.mit.edu	37	16	7568354	7568354	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:7568354C>T	ENST00000552089.1	+	4	455	c.341C>T	c.(340-342)gCg>gTg	p.A114V	RBFOX1_ENST00000547372.1_Missense_Mutation_p.A121V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A98V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A121V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A98V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A83V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A114V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A98V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A78V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	78					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGAGCCCGGCGGACACGAGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(157;934 2567 15163 39509)							NA				0													91	89	90			NA	NA	16		NA											NA				7568354		2197	4300	6497	SO:0001583	missense			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328	54715	54715		RNA binding motif (RRM) containing	18222	protein-coding gene	gene with protein product	ataxin 2-binding protein 1, hexaribonucleotide binding protein 1	605104			NA	10814712, 16260614	Standard	NM_145891	NM_018723	NA	Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000552089.1:c.341C>T	16.37:g.7568354C>T	ENSP00000448496:p.Ala114Val	NA	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	37		.	.	.	.	.	.	.	.	.	.	C	14.12	2.439434	0.43326	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.91;1.36;1.66;1.62;1.64;1.74;1.36;1.46;1.64;1.64;1.35	4.28	4.28	0.50868	.	0.373739	0.27927	N	0.017282	T	0.18045	0.0433	N	0.08118	0	0.39474	D	0.967774	B;P;P;P;B;P;B;B;P	0.49185	0.201;0.733;0.778;0.628;0.278;0.92;0.081;0.081;0.879	B;B;B;B;B;B;B;B;B	0.36666	0.057;0.09;0.085;0.115;0.065;0.169;0.065;0.029;0.23	T	0.11665	-1.0578	10	0.48119	T	0.1	-0.0284	13.3828	0.60778	0.0:0.841:0.159:0.0	.	98;114;121;98;98;98;78;78;121	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	78;78;78;121;121;114;114;78;78;98;98;98;98;83	ENSP00000450402:A78V;ENSP00000450031:A78V;ENSP00000447753:A78V;ENSP00000446842:A121V;ENSP00000391269:A121V;ENSP00000447281:A78V;ENSP00000447717:A78V;ENSP00000402745:A98V;ENSP00000309117:A98V;ENSP00000347855:A98V;ENSP00000344196:A83V	ENSP00000309117:A98V	A	+	2	0	RBFOX1	7508355	0.942000	0.31987	0.927000	0.36925	0.680000	0.39746	3.805000	0.55575	1.915000	0.55452	0.557000	0.71058	GCG	RBFOX1-006	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409496.1		+	ENST00000552089.1	Missense_Mutation	SNP	16 : 7568354 - 7568354 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	927	198
RIMS2	9699	broad.mit.edu	37	8	105263855	105263855	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:105263855G>A	ENST00000436393.2	+	28	4152	c.3911G>A	c.(3910-3912)cGc>cAc	p.R1304H	RIMS2_ENST00000339750.2_Missense_Mutation_p.R222H|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1100H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1286H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1125H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1348	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATTATGGCCGCATGGATCAC	0.378		NA								HNSCC(12;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	128	128			NA	NA	8		NA											NA				105263855		1895	4148	6043	SO:0001583	missense			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14			9699	9699			17283	protein-coding gene	gene with protein product		606630	RAB3 interacting protein 3	RAB3IP3	NA	9872452, 12578829	Standard	NM_001100117	NM_014677	NA	Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3911G>A	8.37:g.105263855G>A	ENSP00000390665:p.Arg1304His	NA	O43413|Q86XL9|Q8IWV9|Q8IWW1	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.134573	0.77662	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.64	5.64	0.86602	.	.	.	.	.	D	0.88020	0.6325	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.999	D;D;D;D	0.75020	0.984;0.978;0.978;0.985	D	0.90084	0.4172	9	0.87932	D	0	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1304;1125;1100;1286	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	H	1323;1286;1348;1125;1100;1304;222;222	ENSP00000384892:R1286H;ENSP00000262231:R1125H;ENSP00000423559:R1100H;ENSP00000390665:R1304H;ENSP00000428478:R222H;ENSP00000342051:R222H	ENSP00000262231:R1125H	R	+	2	0	RIMS2	105333031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.660000	0.90430	0.655000	0.94253	CGC	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367217.1		+	ENST00000436393.2	Missense_Mutation	SNP	8 : 105263855 - 105263855 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	530	6
RIMS2	9699	broad.mit.edu	37	8	104709490	104709490	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:104709490G>A	ENST00000406091.3	+	2	353	c.353G>A	c.(352-354)cGt>cAt	p.R118H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	149	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTGTGCTCGTTGTGGAGGT	0.413		NA								HNSCC(12;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,3917		0,1,1958	202	194	197		353	5.5	1	8		197	0,8322		0,0,4161	no	missense	RIMS2	NM_001100117.2	29	0,1,6119	AA,AG,GG	NA	0.0,0.0255,0.0082	probably-damaging	118/1350	104709490	1,12239	1959	4161	6120	SO:0001583	missense			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14			9699	9699			17283	protein-coding gene	gene with protein product		606630	RAB3 interacting protein 3	RAB3IP3	NA	9872452, 12578829	Standard	NM_001100117	NM_014677	NA	Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.353G>A	8.37:g.104709490G>A	ENSP00000384892:p.Arg118His	NA	O43413|Q86XL9|Q8IWV9|Q8IWW1	37	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260075	0.95368	2.55E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.77620	-1.11;-1.11	5.49	5.49	0.81192	.	.	.	.	.	D	0.90428	0.7003	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91861	0.5499	9	0.87932	D	0	.	19.3601	0.94434	0.0:0.0:1.0:0.0	.	118	F8WD47	.	H	118;149;118;149	ENSP00000427018:R118H;ENSP00000384892:R118H	ENSP00000332184:R149H	R	+	2	0	RIMS2	104778666	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.869000	0.99810	2.559000	0.86315	0.462000	0.41574	CGT	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			+	ENST00000406091.3	Missense_Mutation	SNP	8 : 104709490 - 104709490 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	547	110
RNF213	57674	broad.mit.edu	37	17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:78348328G>A	ENST00000508628.2	+	51	13305	c.13160G>A	c.(13159-13161)cGt>cAt	p.R4387H	RNF213_ENST00000582970.1_Missense_Mutation_p.R4338H|RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA			Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	105	114			NA	NA	17		NA											NA				78348328		2203	4300	6503	SO:0001583	missense			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821	57674	57674		RING-type (C3HC4) zinc fingers	14539	protein-coding gene	gene with protein product		613768	chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2	C17orf27, KIAA1618, MYMY2	NA	10997877, 21048783, 21799892	Standard	NM_020914	NM_020954	NA	Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000508628.2:c.13160G>A	17.37:g.78348328G>A	ENSP00000425956:p.Arg4387His	NA	Q69YK7|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.164767	0.78339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.35236	1.32	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.84219	2.685	0.35619	D	0.809306	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76310	-0.3006	10	0.72032	D	0.01	.	16.3893	0.83528	0.0:0.0:1.0:0.0	.	4387;2411	C9JCP4;Q63HN8	.;RN213_HUMAN	H	4338;4387;2411	ENSP00000338218:R2411H	ENSP00000338218:R2411H	R	+	2	0	RNF213	75962923	1.000000	0.71417	0.113000	0.21522	0.520000	0.34377	7.735000	0.84939	2.357000	0.79964	0.561000	0.74099	CGT	RNF213-001	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364861.3		+	ENST00000508628.2	Missense_Mutation	SNP	17 : 78348328 - 78348328 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	403	81
SAMSN1	64092	broad.mit.edu	37	21	15884872	15884872	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:15884872G>A	ENST00000285670.2	-	5	680	c.506C>T	c.(505-507)gCc>gTc	p.A169V	SAMSN1_ENST00000400566.1_Missense_Mutation_p.A101V|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	101	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATATGGGTGGGCATTCTCTCC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													173	169	170			NA	NA	21		NA											NA				15884872		1912	4122	6034	SO:0001583	missense			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307	64092	64092		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	10528	protein-coding gene	gene with protein product	nuclear localization signals, SAM and SH3 domain containing 1, SAM and SH3 domain containing 2, hematopoietic adapter-containing SH3 and sterile &				NA					NA									NA		NA																																																																																								NA									0	0
SCAND3	0	broad.mit.edu	37	6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN		407	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	50	49			NA	NA	6		NA											NA				28543263		2200	4300	6500	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000452236.2:c.1219C>T	6.37:g.28543263G>A	ENSP00000395259:p.Arg407Trp	NA	Q2NKL9|Q5SRJ3|Q8TCN2|Q96MV9|Q96PW3	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	SCAND3	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043551.3		-	ENST00000452236.2	Missense_Mutation	SNP	6 : 28543263 - 28543263 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	277	5
SGSM1	129049	broad.mit.edu	37	22	25280108	25280108	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:25280108C>T	ENST00000400358.4	+	15	1641	c.1584C>T	c.(1582-1584)tgC>tgT	p.C528C	SGSM1_ENST00000400359.4_Silent_p.C583C	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	583						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTTGCCCTGCGATGCTGGAC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	69	69			NA	NA	22		NA											NA				25280108		2052	4189	6241	SO:0001819	synonymous_variant			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037	129049	129049		Small G protein signaling modulators	29410	protein-coding gene	gene with protein product		611417	RUN and TBC1 domain containing 2	RUTBC2	NA	11853319, 17509819, 22637480	Standard	XM_059318	NM_133454	NA	Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400358.4:c.1584C>T	22.37:g.25280108C>T		NA	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|Q5TFL3|Q8TF60	37	CCDS46675.1																																																																																			SGSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320279.1		+	ENST00000400358.4	Silent	SNP	22 : 25280108 - 25280108 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	207	31
SLC25A48	153328	broad.mit.edu	37	5	135188312	135188312	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:135188312G>A	ENST00000274513.5	+	4	395	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.V21M|SLC25A48_ENST00000412661.2_Missense_Mutation_p.V75M|SLC25A48_ENST00000420621.1_Missense_Mutation_p.V75M			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	75					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CTACAACTCCGTGGTGTTTGG	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	131	128			NA	NA	5		NA											NA				135188312		2040	4197	6237	SO:0001583	missense				CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832	153328	153328		Solute carriers	30451	protein-coding gene	gene with protein product	HCC-down-regulated mitochondrial carrier protein				NA	15322095, 19303656	Standard	NM_145282	NM_145282	NA	Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000274513.5:c.223G>A	5.37:g.135188312G>A	ENSP00000274513:p.Val75Met	NA	Q8TAV9	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078213	0.76528	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.80566	-1.39;-1.39;-1.35;-1.39	5.08	5.08	0.68730	.	0.063063	0.64402	D	0.000004	D	0.85344	0.5675	L	0.55834	1.745	0.53688	D	0.999975	D;D	0.67145	0.988;0.996	P;P	0.56648	0.63;0.803	D	0.86464	0.1781	10	0.56958	D	0.05	-25.7293	18.4819	0.90815	0.0:0.0:1.0:0.0	.	75;75	Q6ZT89-3;Q6ZT89-2	.;.	M	75;75;21;75	ENSP00000274513:V75M;ENSP00000407973:V75M;ENSP00000399834:V21M;ENSP00000413049:V75M	ENSP00000274513:V75M	V	+	1	0	SLC25A48	135216211	1.000000	0.71417	0.911000	0.35937	0.938000	0.57974	3.128000	0.50492	2.359000	0.80004	0.462000	0.41574	GTG	SLC25A48-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000347064.1		+	ENST00000274513.5	Missense_Mutation	SNP	5 : 135188312 - 135188312 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	766	6
SMC2	10592	broad.mit.edu	37	9	106878520	106878520	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:106878520C>T	ENST00000286398.7	+	14	1999	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	SMC2_ENST00000374787.3_Missense_Mutation_p.R571C|SMC2_ENST00000303219.8_Missense_Mutation_p.R571C|SMC2_ENST00000374793.3_Missense_Mutation_p.R571C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	571	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACTGAAACGTCGATACAC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	87	84			NA	NA	9		NA											NA				106878520		2203	4300	6503	SO:0001583	missense			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824	10592	10592		Structural maintenance of chromosomes proteins	14011	protein-coding gene	gene with protein product		605576	SMC2 (structural maintenance of chromosomes 2, yeast)-like 1, SMC2 structural maintenance of chromosomes 2-like 1 (yeast)	SMC2L1	NA	9789013	Standard		NM_006444	NA	Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1711C>T	9.37:g.106878520C>T	ENSP00000286398:p.Arg571Cys	NA	Q6IEE0|Q9P1P2	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989673	0.74589	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	4.97	4.97	0.65823	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.111906	0.64402	D	0.000007	D	0.93762	0.8006	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.64410	0.925;0.903	D	0.94700	0.7882	10	0.87932	D	0	-4.1672	16.9734	0.86306	0.0:1.0:0.0:0.0	.	571;571	O95347;Q2KQ72	SMC2_HUMAN;.	C	571	ENSP00000286398:R571C;ENSP00000363925:R571C;ENSP00000306152:R571C;ENSP00000363919:R571C	ENSP00000286398:R571C	R	+	1	0	SMC2	105918341	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.886000	0.63149	2.593000	0.87608	0.591000	0.81541	CGT	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053470.1		+	ENST00000286398.7	Missense_Mutation	SNP	9 : 106878520 - 106878520 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	257	49
SPEN	23013	broad.mit.edu	37	1	16260917	16260917	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16260917G>A	ENST00000375759.3	+	11	8386	c.8182G>A	c.(8182-8184)Gct>Act	p.A2728T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2728	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGTCAATGCCGCTGCGAGTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80	75	77		8182	-3.2	0	1		77	0,8600		0,0,4300	no	missense	SPEN	NM_015001.2	58	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	2728/3665	16260917	1,13005	2203	4300	6503	SO:0001583	missense				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	23013	23013		RNA binding motif (RRM) containing	17575	protein-coding gene	gene with protein product		613484	SPEN homolog, transcriptional regulator (Drosophila), spen homolog, transcriptional regulator (Drosophila)		NA	10451362, 11331609	Standard	NM_015001	NM_015001	NA	Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8182G>A	1.37:g.16260917G>A	ENSP00000364912:p.Ala2728Thr	NA	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.580191	0.00879	2.27E-4	0.0	ENSG00000065526	ENST00000375759	T	0.11821	2.74	2.74	-3.23	0.05109	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.42189	-0.9466	9	0.15066	T	0.55	0.0051	0.5368	0.00638	0.3557:0.1752:0.2912:0.1779	.	2728	Q96T58	MINT_HUMAN	T	2728	ENSP00000364912:A2728T	ENSP00000364912:A2728T	A	+	1	0	SPEN	16133504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.045000	0.03528	-0.787000	0.04510	-0.305000	0.09177	GCT	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025993.1		+	ENST00000375759.3	Missense_Mutation	SNP	1 : 16260917 - 16260917 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	360	6
TP53	7157	broad.mit.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:7579716delG	ENST00000420246.2	-	3	212	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)		GTTGTTTTCAGGAAGTCTGAA	0.617		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	15	Whole gene deletion(8)|Deletion - Frameshift(7)	large_intestine(5)|bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											42	42	42			NA	NA	17		NA											NA				7579716		2203	4300	6503	SO:0001589	frameshift_variant	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.80delC	17.37:g.7579716delG	ENSP00000391127:p.Pro27fs	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																																																																																			TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Frame_Shift_Del	DEL	17 : 7579716 - 7579716 - PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	273	50
TRAPPC9	83696	broad.mit.edu	37	8	141297778	141297778	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:141297778G>A	ENST00000389328.4	-	13	2218	c.2204C>T	c.(2203-2205)cCg>cTg	p.P735L	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P637L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P628L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	637					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGATTCAGCCGGAAGAGAAAG	0.587		NA											G	1	5e-04	NA	NA	2184	NA	0.9999	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.8999	EXOME	NA	NA	7e-04	SNP								NA				0													79	81	81			NA	NA	8		NA											NA				141297778		2203	4300	6503	SO:0001583	missense			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632	83696	83696		Trafficking protein particle complex	30832	protein-coding gene	gene with protein product	TRAPP 120 kDa subunit, tularik gene 1	611966			NA	11572484	Standard	NM_031466	NM_031466	NA	Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000389328.4:c.2204C>T	8.37:g.141297778G>A	ENSP00000373979:p.Pro735Leu	NA	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	37	CCDS34946.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.1	4.599316	0.87055	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;P;D	0.85130	0.997;0.996;0.706;0.985	T	0.68074	-0.5505	9	0.26408	T	0.33	.	17.9069	0.88921	0.0:0.0:1.0:0.0	.	735;637;628;735	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	L	735;628;637	.	ENSP00000373978:P628L	P	-	2	0	TRAPPC9	141366960	1.000000	0.71417	0.283000	0.24790	0.890000	0.51754	8.748000	0.91615	2.518000	0.84900	0.655000	0.94253	CCG	TRAPPC9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377711.3		-	ENST00000389328.4	Missense_Mutation	SNP	8 : 141297778 - 141297778 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	361	5
TRIOBP	11078	broad.mit.edu	37	22	38151606	38151606	+	Missense_Mutation	SNP	G	G	A	rs150426001	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:38151606G>A	ENST00000406386.3	+	15	5882	c.5627G>A	c.(5626-5628)cGg>cAg	p.R1876Q	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R163Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R163Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1876	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCATCCGGCGGAACTGGATC	0.582		NA											G	2	9e-04	NA	NA	2184	0.0035	0.9999	,	,	NA	5e-04	NA	NA	NA	9e-04	0.9525	LOWCOV,EXOME	NA	NA	0.0018	SNP								NA				0								G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	121	86	98		5627,488,488	4.7	1	22	dbSNP_134	98	0,8600		0,0,4300	yes	missense,missense,missense	TRIOBP	NM_001039141.2,NM_007032.5,NM_138632.2	43,43,43	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1876/2366,163/653,163/432	38151606	1,13005	2203	4300	6503	SO:0001583	missense			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106	11078	11078		Pleckstrin homology (PH) domain containing	17009	protein-coding gene	gene with protein product		609761		DFNB28	NA	11148140, 16385457, 16385458	Standard		NM_001039141	NA	Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5627G>A	22.37:g.38151606G>A	ENSP00000384312:p.Arg1876Gln	NA	B1AHD4|B1AHD7|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	37	CCDS43015.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	35	5.474222	0.96291	2.27E-4	0.0	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.69	4.69	0.59074	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.82384	0.5025	L	0.42632	1.34	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.994	D	0.84551	0.0644	9	0.72032	D	0.01	.	17.9959	0.89184	0.0:0.0:1.0:0.0	.	163;163;1876	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	Q	1876;163;163;122;92	ENSP00000384312:R1876Q;ENSP00000383913:R163Q;ENSP00000386026:R163Q;ENSP00000396946:R122Q;ENSP00000387881:R92Q	ENSP00000386026:R163Q	R	+	2	0	TRIOBP	36481552	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.307000	0.96226	2.310000	0.77875	0.561000	0.74099	CGG	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319439.2		+	ENST00000406386.3	Missense_Mutation	SNP	22 : 38151606 - 38151606 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	264	4
TROAP	10024	broad.mit.edu	37	12	49722972	49722972	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:49722972C>T	ENST00000551245.1	+	10	1160	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	TROAP_ENST00000547923.1_Missense_Mutation_p.T58I|TROAP_ENST00000257909.3_Missense_Mutation_p.T350I			Q12815	TROAP_HUMAN	trophinin associated protein	350					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CGGCGTCTCACCGTTCAACCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													217	208	211			NA	NA	12		NA											NA				49722972		2203	4300	6503	SO:0001583	missense			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451	10024	10024			12327	protein-coding gene	gene with protein product	tastin	603872			NA	7758945	Standard	NM_005480	NM_005480	NA	Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000551245.1:c.1049C>T	12.37:g.49722972C>T	ENSP00000447509:p.Thr350Ile	NA	Q8N5B2	37		.	.	.	.	.	.	.	.	.	.	C	13.66	2.302681	0.40795	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.33	5.33	0.75918	.	0.344021	0.24647	N	0.036744	T	0.34919	0.0914	L	0.29908	0.895	0.09310	N	1	P;P;P	0.36535	0.557;0.557;0.557	B;B;B	0.38616	0.277;0.277;0.215	T	0.28554	-1.0040	9	0.38643	T	0.18	-3.668	14.505	0.67746	0.0:1.0:0.0:0.0	.	350;58;350	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	350;350;58	.	ENSP00000257909:T350I	T	+	2	0	TROAP	48009239	0.006000	0.16342	0.017000	0.16124	0.005000	0.04900	2.161000	0.42358	2.497000	0.84241	0.462000	0.41574	ACC	TROAP-003	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000404342.1		+	ENST00000551245.1	Missense_Mutation	SNP	12 : 49722972 - 49722972 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	833	8
UBR4	23352	broad.mit.edu	37	1	19439063	19439063	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:19439063G>A	ENST00000375254.3	-	78	11783	c.11756C>T	c.(11755-11757)gCg>gTg	p.A3919V	UBR4_ENST00000375226.2_Missense_Mutation_p.A3895V|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375267.2_Missense_Mutation_p.A3919V|UBR4_ENST00000375217.2_Missense_Mutation_p.A3912V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3919					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCGCATGGCCGCAGCCCCTCG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	69	67			NA	NA	1		NA											NA				19439063		2203	4300	6503	SO:0001583	missense			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	23352	23352		Ubiquitin protein ligase E3 component n-recognins	30313	protein-coding gene	gene with protein product		609890	zinc finger, UBR1 type 1	ZUBR1	NA	14702039, 10718198, 16055722	Standard	NM_020765	XM_005245802	NA	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11756C>T	1.37:g.19439063G>A	ENSP00000364403:p.Ala3919Val	NA	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847832	0.51164	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.85	5.85	0.93711	.	0.106897	0.64402	D	0.000006	T	0.43411	0.1246	N	0.11064	0.09	0.80722	D	1	B	0.27971	0.196	B	0.21151	0.033	T	0.35822	-0.9773	10	0.16420	T	0.52	.	18.7215	0.91697	0.0:0.0:1.0:0.0	.	3919	Q5T4S7	UBR4_HUMAN	V	3919;3919;3912;3895	ENSP00000364403:A3919V;ENSP00000364416:A3919V;ENSP00000364365:A3912V;ENSP00000364374:A3895V	ENSP00000364365:A3912V	A	-	2	0	UBR4	19311650	1.000000	0.71417	0.963000	0.40424	0.927000	0.56198	7.056000	0.76662	2.767000	0.95098	0.655000	0.94253	GCG	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000007085.1		-	ENST00000375254.3	Missense_Mutation	SNP	1 : 19439063 - 19439063 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	540	6
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G	rs150485330		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	NA					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CATGGCTCGCACAGGGTGGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	prostate(1)|lung(1)|kidney(1)											61	53	56			NA	NA	2		NA											NA				234526363		2203	4300	6503	SO:0001583	missense			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	54658	54658	2.4.1.17	UDP glucuronosyltransferases	12530	other	complex locus constituent		191740	UDP glycosyltransferase 1 family, polypeptide A1	UGT1, GNT1	NA	9295054, 9535849	Standard		NM_000463	NA	Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala	NA		37	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000130994.1		+	ENST00000373450.4	Missense_Mutation	SNP	2 : 234526363 - 234526363 G PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	294	5
USP10	9100	broad.mit.edu	37	16	84793046	84793046	+	Silent	SNP	G	G	A	rs113266067		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:84793046G>A	ENST00000219473.7	+	6	1475	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	USP10_ENST00000570191.1_Silent_p.R458R	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	454					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGTGCAAAGGCCTTGTACGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	110	115			NA	NA	16		NA											NA				84793046		1974	4152	6126	SO:0001819	synonymous_variant			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194	9100	9100		Ubiquitin-specific peptidases	12608	protein-coding gene	gene with protein product		609818	ubiquitin specific protease 10		NA	12838346	Standard		NM_005153	NA	Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1362G>A	16.37:g.84793046G>A		NA	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	37	CCDS45537.1																																																																																			USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000433660.1		+	ENST00000219473.7	Silent	SNP	16 : 84793046 - 84793046 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	261	8
USP30	84749	broad.mit.edu	37	12	109520716	109520716	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:109520716G>A	ENST00000392784.2	+	14	1500	c.924G>A	c.(922-924)cgG>cgA	p.R308R	USP30_ENST00000257548.5_Silent_p.R339R			Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	339					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R330R(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTCTGAAGCGGCATGAGCACG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											80	64	69			NA	NA	12		NA											NA				109520716		2203	4300	6503	SO:0001819	synonymous_variant			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093	84749	84749		Ubiquitin-specific peptidases	20065	protein-coding gene	gene with protein product		612492	ubiquitin specific protease 30		NA	12838346	Standard	NM_032663	XM_005253962	NA	Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000392784.2:c.924G>A	12.37:g.109520716G>A		NA	Q8WTU7|Q96JX4|Q9BSS3	37																																																																																				USP30-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000257734.2		+	ENST00000392784.2	Silent	SNP	12 : 109520716 - 109520716 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	227	5
WDR70	55100	broad.mit.edu	37	5	37703125	37703125	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:37703125G>A	ENST00000265107.4	+	13	1508	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	451										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGCAGCGGCAAACTTGTT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	109	112			NA	NA	5		NA											NA				37703125		2203	4300	6503	SO:0001583	missense			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068	55100	55100		WD repeat domain containing	25495	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018034	NM_018034	NA	Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1352G>A	5.37:g.37703125G>A	ENSP00000265107:p.Gly451Asp	NA	Q9H053	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254750	0.95336	.	.	ENSG00000082068	ENST00000265107	T	0.02369	4.32	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.00351	-1.1796	10	0.59425	D	0.04	-20.8732	19.6155	0.95632	0.0:0.0:1.0:0.0	.	451	Q9NW82	WDR70_HUMAN	D	451	ENSP00000265107:G451D	ENSP00000265107:G451D	G	+	2	0	WDR70	37738882	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.891000	0.92485	2.801000	0.96364	0.650000	0.86243	GGC	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368294.1		+	ENST00000265107.4	Missense_Mutation	SNP	5 : 37703125 - 37703125 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	402	6
ZNF142	7701	broad.mit.edu	37	2	219507509	219507509	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:219507509G>A	ENST00000449707.1	-	8	4151	c.3730C>T	c.(3730-3732)Cgc>Tgc	p.R1244C	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1244C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGTGCAAGCGCAGTTTCGAG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(170;867 1942 8995 15834 18053)							NA				0													105	114	111			NA	NA	2		NA											NA				219507509		2121	4232	6353	SO:0001583	missense			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568	7701	7701		Zinc fingers, C2H2-type	12927	protein-coding gene	gene with protein product		604083	zinc finger protein 142 (clone pHZ-49)		NA		Standard	NM_005081	NM_001105537	NA	Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3730C>T	2.37:g.219507509G>A	ENSP00000408643:p.Arg1244Cys	NA	Q92510	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715052	0.89112	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.61510	0.1;0.1	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72398	-0.4306	10	0.56958	D	0.05	-53.5349	19.4628	0.94924	0.0:0.0:1.0:0.0	.	1244;1081	P52746;A8MWU9	ZN142_HUMAN;.	C	1244	ENSP00000408643:R1244C;ENSP00000398798:R1244C	ENSP00000398798:R1244C	R	-	1	0	ZNF142	219215753	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	7.406000	0.80017	2.837000	0.97791	0.655000	0.94253	CGC	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336833.1		-	ENST00000449707.1	Missense_Mutation	SNP	2 : 219507509 - 219507509 A PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	779	6
ZNRF4	148066	broad.mit.edu	37	19	5455843	5455843	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:5455843C>T	ENST00000222033.4	+	1	418	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	114						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTGGACTTTGCGGATCTGCCG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	59	56			NA	NA	19		NA											NA				5455843		2112	4215	6327	SO:0001583	missense			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428	148066	148066		RING-type (C3HC4) zinc fingers	17726	protein-coding gene	gene with protein product		612063			NA		Standard	NM_181710	NM_181710	NA	Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.341C>T	19.37:g.5455843C>T	ENSP00000222033:p.Ala114Val	NA	A8K886|O75866	37	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	5.011	0.187799	0.09547	.	.	ENSG00000105428	ENST00000222033	T	0.04706	3.57	4.34	0.627	0.17675	.	0.646960	0.14779	U	0.298908	T	0.03915	0.0110	L	0.58101	1.795	0.09310	N	1	P	0.35011	0.48	B	0.21360	0.034	T	0.38908	-0.9639	10	0.30854	T	0.27	.	4.0098	0.09618	0.0:0.3583:0.2521:0.3896	.	114	Q8WWF5	ZNRF4_HUMAN	V	114	ENSP00000222033:A114V	ENSP00000222033:A114V	A	+	2	0	ZNRF4	5406843	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	-0.284000	0.08422	0.267000	0.21916	0.491000	0.48974	GCG	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450924.1		+	ENST00000222033.4	Missense_Mutation	SNP	19 : 5455843 - 5455843 T PAAD-TCGA-H8-A6C1-Tumor-SM-4WPAE	618	6
