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
AGGF1	55109	broad.mit.edu	37	5	76349893	76349893	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr5:76349893A>T	ENST00000312916.7	+	10	1953	c.1571A>T	c.(1570-1572)gAt>gTt	p.D524V		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	524					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GATACCTGTGATGGCTGTGAA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	135	137			NA	NA	5		NA											NA				76349893		2203	4300	6503	SO:0001583	missense			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252	55109	55109		G patch domain containing	24684	protein-coding gene	gene with protein product		608464			NA	18564129, 17103452	Standard	NM_018046	NM_018046	NA	Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1571A>T	5.37:g.76349893A>T	ENSP00000316109:p.Asp524Val	NA	O00581|Q53YS3|Q9BU84|Q9NW66	37	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284157	0.59867	.	.	ENSG00000164252	ENST00000312916	T	0.40476	1.03	5.02	5.02	0.67125	Forkhead-associated (FHA) domain (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.56769	1.78	0.80722	D	1	P	0.38617	0.64	B	0.34779	0.189	T	0.46345	-0.9198	10	0.72032	D	0.01	-0.0151	14.7498	0.69516	1.0:0.0:0.0:0.0	.	524	Q8N302	AGGF1_HUMAN	V	524	ENSP00000316109:D524V	ENSP00000316109:D524V	D	+	2	0	AGGF1	76385649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.271000	0.95698	1.883000	0.54544	0.379000	0.24179	GAT	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219971.2		+	ENST00000312916.7	Missense_Mutation	SNP	5 : 76349893 - 76349893 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	769	64
ALPK2	115701	broad.mit.edu	37	18	56274646	56274646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr18:56274646C>T	ENST00000361673.3	-	3	348	c.135G>A	c.(133-135)tgG>tgA	p.W45*		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	45	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATTCTTATACCAAGTTACCT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	68	69			NA	NA	18		NA											NA				56274646		1880	4105	5985	SO:0001587	stop_gained			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796	115701	115701		Immunoglobulin superfamily / I-set domain containing	20565	protein-coding gene	gene with protein product	heart alpha-kinase				NA	10021370	Standard	NM_052947	NM_052947	NA	Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.135G>A	18.37:g.56274646C>T	ENSP00000354991:p.Trp45*	NA	Q6ZUX0|Q8NAT5|Q96L95	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	39	7.294979	0.98192	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1281	17.1872	0.86869	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000354991:W45X	W	-	3	0	ALPK2	54425626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.818000	0.55678	2.793000	0.96121	0.591000	0.81541	TGG	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256126.1		-	ENST00000361673.3	Nonsense_Mutation	SNP	18 : 56274646 - 56274646 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	278	39
APLF	200558	broad.mit.edu	37	2	68729986	68729986	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:68729986T>A	ENST00000303795.4	+	3	463	c.292T>A	c.(292-294)Ttc>Atc	p.F98I		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	98	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAAATACATTTTCCGCATTCT	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	137	137			NA	NA	2		NA											NA				68729986		2203	4300	6503	SO:0001583	missense			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621	200558	200558			28724	protein-coding gene	gene with protein product	XRCC1-interacting protein 1, zinc finger, CX5CX6HX5H motif containing 1	611035	chromosome 2 open reading frame 13	C2orf13	NA	18474613, 18077224, 17353262	Standard	NM_173545	NM_173545	NA	Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.292T>A	2.37:g.68729986T>A	ENSP00000307004:p.Phe98Ile	NA	A8K476|Q53P47|Q53PB9|Q53QU0	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	t	15.35	2.807837	0.50421	.	.	ENSG00000169621	ENST00000303795	T	0.27104	1.69	5.22	5.22	0.72569	SMAD/FHA domain (1);	0.053905	0.64402	D	0.000001	T	0.53449	0.1797	M	0.83603	2.65	0.44432	D	0.997351	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.60136	-0.7322	10	0.87932	D	0	.	12.924	0.58249	0.0:0.0:0.0:1.0	.	98;98	F8WET0;Q8IW19	.;APLF_HUMAN	I	98	ENSP00000307004:F98I	ENSP00000307004:F98I	F	+	1	0	APLF	68583490	0.982000	0.34865	0.424000	0.26647	0.007000	0.05969	4.205000	0.58466	2.091000	0.63221	0.533000	0.62120	TTC	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251759.1		+	ENST00000303795.4	Missense_Mutation	SNP	2 : 68729986 - 68729986 A PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	1032	139
ASH2L	9070	broad.mit.edu	37	8	37974234	37974234	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr8:37974234A>T	ENST00000343823.6	+	8	1153	c.844A>T	c.(844-846)Aat>Tat	p.N282Y	ASH2L_ENST00000545394.1_Missense_Mutation_p.N143Y|ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000521652.1_Missense_Mutation_p.N188Y|ASH2L_ENST00000428278.2_Missense_Mutation_p.N188Y|ASH2L_ENST00000250635.7_Missense_Mutation_p.N188Y	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	282					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TACTAGTGGGAATTTAAATGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	88	89			NA	NA	8		NA											NA				37974234		2203	4300	6503	SO:0001583	missense			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691	9070	9070		Zinc fingers, PHD-type	744	protein-coding gene	gene with protein product		604782	ash2 (absent, small, or homeotic, Drosophila, homolog)-like	ASH2L1	NA	10393421	Standard	NM_004674	NM_004674	NA	Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.844A>T	8.37:g.37974234A>T	ENSP00000340896:p.Asn282Tyr	NA	A8K7C3|D3DSW9|O60659|O60660|Q96B62	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009607	0.54361	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.79	5.79	0.91817	.	0.088769	0.85682	D	0.000000	T	0.12347	0.0300	N	0.03608	-0.345	0.46774	D	0.99919	B;P	0.47350	0.001;0.894	B;B	0.41723	0.001;0.365	T	0.17107	-1.0380	10	0.59425	D	0.04	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	188;282	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	Y	282;188;143;188;188	ENSP00000340896:N282Y;ENSP00000250635:N188Y;ENSP00000443606:N143Y;ENSP00000395310:N188Y;ENSP00000430259:N188Y	ENSP00000250635:N188Y	N	+	1	0	ASH2L	38093391	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.057000	0.64294	2.201000	0.70794	0.533000	0.62120	AAT	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376749.4		+	ENST00000343823.6	Missense_Mutation	SNP	8 : 37974234 - 37974234 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	394	37
BST2	684	broad.mit.edu	37	19	17515193	17515193	+	Silent	SNP	C	C	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:17515193C>A	ENST00000252593.6	-	2	411	c.339G>T	c.(337-339)gtG>gtT	p.V113V	BST2_ENST00000527220.1_Intron	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	113					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						CAAGCTCCTCCACTTTCTTTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	109	109			NA	NA	19		NA											NA				17515193		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303	684	684		CD molecules	1119	protein-coding gene	gene with protein product		600534			NA	7607676	Standard	NM_004335	NM_004335	NA	Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.339G>T	19.37:g.17515193C>A		NA	A8K4Y4|Q53G07	37	CCDS12358.1																																																																																			BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387346.1		-	ENST00000252593.6	Silent	SNP	19 : 17515193 - 17515193 A PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	939	104
C18orf25	147339	broad.mit.edu	37	18	43833700	43833700	+	Silent	SNP	A	A	T	rs141322867	by1000genomes	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr18:43833700A>T	ENST00000282059.6	+	4	1310	c.936A>T	c.(934-936)acA>acT	p.T312T	C18orf25_ENST00000321319.6_Silent_p.T251T	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	312										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GTGACAAAACATCTGGCAATG	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	121	124			NA	NA	18		NA											NA				43833700		1866	4088	5954	SO:0001819	synonymous_variant			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242	147339	147339			28172	protein-coding gene	gene with protein product	ARKadia-like 1				NA	15722956	Standard	NM_145055	NM_001008239	NA	Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.936A>T	18.37:g.43833700A>T		NA	A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	37	CCDS42430.1																																																																																			C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445242.1		+	ENST00000282059.6	Silent	SNP	18 : 43833700 - 43833700 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	796	141
C2orf71	388939	broad.mit.edu	37	2	29295765	29295765	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:29295765G>T	ENST00000331664.5	-	1	1362	c.1363C>A	c.(1363-1365)Cca>Aca	p.P455T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	455					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GAATCACATGGGGTGCTTGTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	90	89			NA	NA	2		NA											NA				29295765		1975	4158	6133	SO:0001583	missense				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270	388939	388939			34383	protein-coding gene	gene with protein product		613425			NA	20398886	Standard	NM_001029883	NM_001029883	NA	Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1363C>A	2.37:g.29295765G>T	ENSP00000332809:p.Pro455Thr	NA		37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	9.104	1.004923	0.19199	.	.	ENSG00000179270	ENST00000331664	T	0.19394	2.15	5.3	-3.7	0.04437	.	1.678270	0.03044	N	0.153697	T	0.18800	0.0451	L	0.56769	1.78	0.09310	N	1	P	0.38370	0.628	B	0.34489	0.184	T	0.29912	-0.9996	10	0.33940	T	0.23	3.0531	6.309	0.21154	0.4479:0.3978:0.1543:0.0	.	455	A6NGG8	CB071_HUMAN	T	455	ENSP00000332809:P455T	ENSP00000332809:P455T	P	-	1	0	C2orf71	29149269	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.083000	0.11286	-0.583000	0.05921	0.561000	0.74099	CCA	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324924.3		-	ENST00000331664.5	Missense_Mutation	SNP	2 : 29295765 - 29295765 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	542	30
CATSPERD	257062	broad.mit.edu	37	19	5745924	5745924	+	Splice_Site	SNP	G	G	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:5745924G>A	ENST00000381624.3	+	9	719	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	220						integral to membrane					NA						TTTCTCCCAGGGCATGTTCAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	158	161			NA	NA	19		NA											NA				5745924		1907	4127	6034	SO:0001630	splice_region_variant			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898	257062	257062			28598	protein-coding gene	gene with protein product			transmembrane protein 146	TMEM146	NA	21224844	Standard	NM_152784	NM_152784	NA	Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.658-1G>A	19.37:g.5745924G>A		NA	Q6ZRP1	37	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286429	0.59867	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.16324	2.35	2.91	2.91	0.33838	.	1.329550	0.05708	U	0.595402	T	0.33147	0.0853	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	T	0.10753	-1.0616	9	.	.	.	-10.391	9.5202	0.39131	0.0:0.0:1.0:0.0	.	220	Q86XM0	TM146_HUMAN	S	146;220	ENSP00000371037:G220S	.	G	+	1	0	TMEM146	5696924	0.998000	0.40836	0.189000	0.23252	0.228000	0.25075	3.539000	0.53604	1.947000	0.56498	0.491000	0.48974	GGC	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286953.2	Missense_Mutation	+	ENST00000381624.3	Splice_Site	SNP	19 : 5745924 - 5745924 A PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	1523	157
ELMO1	9844	broad.mit.edu	37	7	37354484	37354484	+	Silent	SNP	G	G	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr7:37354484G>A	ENST00000310758.4	-	4	809	c.162C>T	c.(160-162)gcC>gcT	p.A54A	ELMO1_ENST00000448602.1_Silent_p.A54A|ELMO1_ENST00000442504.1_Silent_p.A54A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	54					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTGAACTATCGGCATGCTGGA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	0,4406		0,0,2203	110	104	106		162,162,162	-8.8	0.7	7		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,	54/728,54/728,54/728	37354484	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849	9844	9844		Engulfment and cell motility proteins	16286	protein-coding gene	gene with protein product		606420	engulfment and cell motility 1 (ced-12 homolog, C. elegans)		NA	11595183	Standard	NM_130442	NM_001039459	NA	Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.162C>T	7.37:g.37354484G>A		NA	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	37	CCDS5449.1																																																																																			ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219830.4		-	ENST00000310758.4	Silent	SNP	7 : 37354484 - 37354484 A PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	220	19
FAT3	120114	broad.mit.edu	37	11	92569867	92569867	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr11:92569867C>T	ENST00000525166.1	+	15	9794	c.9772C>T	c.(9772-9774)Cgg>Tgg	p.R3258W	FAT3_ENST00000298047.6_Missense_Mutation_p.R3408W|FAT3_ENST00000409404.2_Missense_Mutation_p.R3408W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3408	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACCGGGAACGGGTAAGCTA	0.438		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,3766		0,0,1883	106	101	102		10222	5.1	1	11		102	21,8199		0,21,4089	yes	missense	FAT3	NM_001008781.2	101	0,21,5972	TT,TC,CC	NA	0.2555,0.0,0.1752	probably-damaging	3408/4558	92569867	21,11965	1883	4110	5993	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.9772C>T	11.37:g.92569867C>T	ENSP00000432586:p.Arg3258Trp	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	C	17.88	3.496552	0.64186	0.0	0.002555	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01804	4.63;4.63;4.63	5.09	5.09	0.68999	.	.	.	.	.	T	0.06371	0.0164	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	P	0.57009	0.811	T	0.05022	-1.0911	9	0.66056	D	0.02	.	13.097	0.59197	0.1702:0.8298:0.0:0.0	.	3408	Q8TDW7-3	.	W	3408;3408;3258	ENSP00000298047:R3408W;ENSP00000387040:R3408W;ENSP00000432586:R3258W	ENSP00000298047:R3408W	R	+	1	2	FAT3	92209515	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.977000	0.29475	2.526000	0.85167	0.563000	0.77884	CGG	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92569867 - 92569867 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	253	36
LILRA6	79168	broad.mit.edu	37	19	54744909	54744909	+	Silent	SNP	G	G	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:54744909G>A	ENST00000396365.2	-	5	792	c.753C>T	c.(751-753)taC>taT	p.Y251Y	LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Silent_p.Y251Y|LILRA6_ENST00000419410.2_Silent_p.Y251Y|LILRA6_ENST00000440558.2_Silent_p.Y251Y	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	NA										central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTGTCGTAGCCGACAT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		1,4405	2.1+/-5.4	0,1,2202	121	130	127		753	-1.1	0	19		127	1,8599		0,1,4299	no	coding-synonymous	LILRA6	NM_024318.2		0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154		251/482	54744909	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482	79168	79168		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	15495	protein-coding gene	gene with protein product			leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6	LILRB6	NA	10941842	Standard	NM_024318	NM_024318	NA	Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.753C>T	19.37:g.54744909G>A		NA		37	CCDS42610.1																																																																																			LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313725.1		-	ENST00000396365.2	Silent	SNP	19 : 54744909 - 54744909 A PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	957	53
MCM3AP	8888	broad.mit.edu	37	21	47704430	47704430	+	Silent	SNP	C	C	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr21:47704430C>T	ENST00000397708.1	-	2	1025	c.771G>A	c.(769-771)gcG>gcA	p.A257A	MCM3AP_ENST00000291688.1_Silent_p.A257A			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	257					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGCCCAAAACCGCAGATGATA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	82	82			NA	NA	21		NA											NA				47704430		2203	4300	6503	SO:0001819	synonymous_variant			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294	8888	8888			6946	protein-coding gene	gene with protein product	germinal-centre associated nuclear protein	603294	minichromosome maintenance deficient (S. cerevisiae) 3-associated protein, MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein		NA	9712829, 16914116, 21195085	Standard	NM_003906	XM_005261205	NA	Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.771G>A	21.37:g.47704430C>T		NA	Q2M3C1|Q9UMT4	37	CCDS13734.1																																																																																			MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207254.1		-	ENST00000397708.1	Silent	SNP	21 : 47704430 - 47704430 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	819	95
MLF2	8079	broad.mit.edu	37	12	6858098	6858098	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:6858098G>A	ENST00000203630.5	-	8	1254	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	MLF2_ENST00000435120.1_Missense_Mutation_p.R204W|MLF2_ENST00000539187.1_Missense_Mutation_p.R204W|MLF2_ENST00000542154.1_Missense_Mutation_p.R204W			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	204					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CGCTGCTGCCGGAATCGGGAG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	15	15			NA	NA	12		NA											NA				6858098		2184	4269	6453	SO:0001583	missense			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693	8079	8079			7126	protein-coding gene	gene with protein product		601401			NA	8661158	Standard		NM_005439	NA	Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.610C>T	12.37:g.6858098G>A	ENSP00000203630:p.Arg204Trp	NA		37	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.316957	0.40996	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.21	2.18	0.27775	.	0.153364	0.44688	D	0.000421	T	0.54127	0.1839	L	0.27053	0.805	0.49798	D	0.999828	D	0.89917	1.0	D	0.75020	0.985	T	0.53173	-0.8476	9	0.62326	D	0.03	.	7.9052	0.29757	0.0728:0.0:0.5051:0.4222	.	204	Q15773	MLF2_HUMAN	W	204	.	ENSP00000203630:R204W	R	-	1	2	MLF2	6728359	1.000000	0.71417	0.989000	0.46669	0.001000	0.01503	1.782000	0.38654	0.548000	0.28955	-0.218000	0.12543	CGG	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400733.2		-	ENST00000203630.5	Missense_Mutation	SNP	12 : 6858098 - 6858098 A PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	180	17
MYH7	4625	broad.mit.edu	37	14	23885302	23885302	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr14:23885302G>C	ENST00000355349.3	-	34	5026	c.4864C>G	c.(4864-4866)Ctc>Gtc	p.L1622V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1622					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTCATTGAGGTCTCCTTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													198	146	163			NA	NA	14		NA											NA				23885302		2203	4300	6503	SO:0001583	missense			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	4625	4625		Myosins / Myosin superfamily : Class II	7577	protein-coding gene	gene with protein product		160760	myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta	CMH1, MPD1	NA	2494889, 8483915, 15322983	Standard	NM_000257	XM_005267696	NA	Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4864C>G	14.37:g.23885302G>C	ENSP00000347507:p.Leu1622Val	NA	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409563	0.62399	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79454	-1.27	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.83843	0.5342	M	0.71206	2.165	0.50313	D	0.999869	P	0.40534	0.72	P	0.50162	0.633	D	0.85606	0.1255	9	0.59425	D	0.04	.	17.8682	0.88803	0.0:0.0:1.0:0.0	.	1622	P12883	MYH7_HUMAN	V	1622;1627	ENSP00000347507:L1622V	ENSP00000347507:L1622V	L	-	1	0	MYH7	22955142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.165000	0.77544	2.537000	0.85549	0.655000	0.94253	CTC	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000071798.3		-	ENST00000355349.3	Missense_Mutation	SNP	14 : 23885302 - 23885302 C PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	849	99
PXDNL	137902	broad.mit.edu	37	8	52321508	52321508	+	Silent	SNP	G	G	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr8:52321508G>C	ENST00000356297.4	-	17	2776	c.2676C>G	c.(2674-2676)gcC>gcG	p.A892A	PXDNL_ENST00000543296.1_Silent_p.A892A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	892					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCGATGTAGGCTGTTTGCT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	51	49			NA	NA	8		NA											NA				52321508		2051	4185	6236	SO:0001819	synonymous_variant				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485	137902	137902		Immunoglobulin superfamily / I-set domain containing	26359	protein-coding gene	gene with protein product	polysomal ribonuclease 1 homolog (Xenopus)	615904	peroxidasin homolog-like (Drosophila)		NA	22543864	Standard	NM_144651	NM_144651	NA	Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2676C>G	8.37:g.52321508G>C		NA	B5ME43|B6CGZ3|Q6ZMR2|Q96LH9	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805621	0.02819	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.17	-1.27	0.09347	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21449	-1.0245	4	.	.	.	.	3.3987	0.07315	0.3694:0.0:0.3804:0.2502	.	.	.	.	R	11	.	.	P	-	2	0	PXDNL	52484061	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-3.594000	0.00420	-0.767000	0.04633	0.655000	0.94253	CCT	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000377905.1		-	ENST00000356297.4	Silent	SNP	8 : 52321508 - 52321508 C PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	407	39
RBM10	8241	broad.mit.edu	37	X	47045114	47045114	+	Splice_Site	SNP	G	G	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chrX:47045114G>C	ENST00000377604.3	+	21	3097		c.e21-1		RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000329236.7_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	NA					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCCTCTTGCAGCAAAACCTTG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(171;120 2705 19495 39241)							NA				0													86	71	76			NA	NA	X		NA											NA				47045114		2203	4300	6503	SO:0001630	splice_region_variant			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872	8241	8241		Zinc fingers, RAN-binding domain containing, G patch domain containing, RNA binding motif (RRM) containing	9896	protein-coding gene	gene with protein product		300080			NA	8590280, 8808293	Standard	NM_005676	NM_005676	NA	Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2356-1G>C	X.37:g.47045114G>C		NA	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012815	0.54468	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2759	0.73742	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM10	46930058	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.496000	0.97967	2.285000	0.76669	0.529000	0.55759	.	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056381.1	Intron	+	ENST00000377604.3	Splice_Site	SNP	X : 47045114 - 47045114 C PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	59	15
RRP8	23378	broad.mit.edu	37	11	6622389	6622389	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr11:6622389G>T	ENST00000534343.1	-	2	176				RRP8_ENST00000254605.6_Missense_Mutation_p.L303I			O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	NA					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CGCTGGCGAAGATCCCTGGCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	32	32			NA	NA	11		NA											NA				6622389		2201	4296	6497	SO:0001627	intron_variant			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275	23378	23378			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	KIAA0409	KIAA0409	NA	9455477	Standard	NM_015324	NM_015324	NA	Approved		uc001med.3	O43159		ENST00000534343.1:c.100-384C>A	11.37:g.6622389G>T		NA	Q7KZ78|Q9BVM6	37		.	.	.	.	.	.	.	.	.	.	G	15.12	2.737955	0.49045	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.53206	0.63;0.63	6.08	4.99	0.66335	.	0.059275	0.64402	D	0.000004	T	0.46151	0.1378	N	0.17922	0.545	0.80722	D	1	B	0.26809	0.16	P	0.51918	0.684	T	0.37407	-0.9707	10	0.07644	T	0.81	-20.4274	9.7753	0.40614	0.0818:0.0:0.7743:0.144	.	303	O43159	RRP8_HUMAN	I	303	ENSP00000254605:L303I;ENSP00000436246:L303I	ENSP00000254605:L303I	L	-	1	0	RRP8	6578965	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.110000	0.57831	2.894000	0.99253	0.655000	0.94253	CTT	RRP8-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000384506.1		-	ENST00000534343.1	Intron	SNP	11 : 6622389 - 6622389 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	199	27
SLC6A5	9152	broad.mit.edu	37	11	20676316	20676316	+	Missense_Mutation	SNP	C	C	T	rs141654146	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr11:20676316C>T	ENST00000525748.1	+	16	2569	c.2296C>T	c.(2296-2298)Cgc>Tgc	p.R766C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	766					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCTCAACACCGCGGGGAGCG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	CYS/ARG	1,4405		0,1,2202	145	138	140		2296	6	1	11	dbSNP_134	140	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC6A5	NM_004211.3	180	0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231	probably-damaging	766/798	20676316	3,13003	2203	4300	6503	SO:0001583	missense			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970	9152	9152		Solute carriers	11051	protein-coding gene	gene with protein product	glycine transporter 2	604159	solute carrier family 6 (neurotransmitter transporter, glycine), member 5	NET1	NA	9845349	Standard	NM_004211	NM_004211	NA	Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2296C>T	11.37:g.20676316C>T	ENSP00000434364:p.Arg766Cys	NA	O95288|Q4VAM7|Q9BX77	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640687	0.87859	2.27E-4	2.33E-4	ENSG00000165970	ENST00000525748	T	0.75938	-0.98	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82748	-0.0304	10	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	766	Q9Y345	SC6A5_HUMAN	C	766	ENSP00000434364:R766C	ENSP00000434364:R766C	R	+	1	0	SLC6A5	20632892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.645000	0.67909	2.873000	0.98535	0.563000	0.77884	CGC	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387497.2		+	ENST00000525748.1	Missense_Mutation	SNP	11 : 20676316 - 20676316 T PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	640	24
SLC8A2	6543	broad.mit.edu	37	19	47968987	47968987	+	Splice_Site	SNP	T	T	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:47968987T>C	ENST00000236877.6	-	2	1069	c.674A>G	c.(673-675)cAg>cGg	p.Q225R	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	225					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTTGCTCACCTGGACCACACC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	35	41			NA	NA	19		NA											NA				47968987		2203	4300	6503	SO:0001630	splice_region_variant			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160	6543	6543		Solute carriers	11069	protein-coding gene	gene with protein product		601901			NA	8021246	Standard		NM_015063	NA	Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.675+1A>G	19.37:g.47968987T>C		NA	B4DYQ9	37	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103832	0.37145	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.62639	0.01	4.16	4.16	0.48862	Sodium/calcium exchanger membrane region (1);	0.066208	0.64402	D	0.000012	T	0.55353	0.1915	L	0.39898	1.24	0.80722	D	1	P;P	0.43826	0.818;0.801	P;B	0.44561	0.453;0.438	T	0.60429	-0.7265	10	0.87932	D	0	.	9.5368	0.39226	0.0:0.0:0.0:1.0	.	53;225	E9PGS7;Q9UPR5	.;NAC2_HUMAN	R	53;225	ENSP00000236877:Q225R	ENSP00000236877:Q225R	Q	-	2	0	SLC8A2	52660799	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	6.954000	0.76001	1.758000	0.51981	0.454000	0.30748	CAG	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466997.1	Missense_Mutation	-	ENST00000236877.6	Splice_Site	SNP	19 : 47968987 - 47968987 C PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	111	7
SORT1	6272	broad.mit.edu	37	1	109883487	109883487	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr1:109883487T>C	ENST00000256637.6	-	10	1181	c.1123A>G	c.(1123-1125)Aca>Gca	p.T375A	SORT1_ENST00000538502.1_Missense_Mutation_p.T238A	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	375					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GTAAAGATTGTGCCAAACCCA	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	98	104			NA	NA	1		NA											NA				109883487		2203	4300	6503	SO:0001583	missense			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243	6272	6272			11186	protein-coding gene	gene with protein product		602458			NA		Standard	NM_002959	NM_002959	NA	Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1123A>G	1.37:g.109883487T>C	ENSP00000256637:p.Thr375Ala	NA	C0JYZ0|Q8IZ49	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	t	17.76	3.469461	0.63625	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.28454	1.61;1.61	5.69	5.69	0.88448	VPS10 (1);	0.101437	0.64402	D	0.000003	T	0.23532	0.0569	L	0.43757	1.38	0.58432	D	0.999999	B;P	0.43352	0.434;0.804	B;P	0.47102	0.148;0.537	T	0.01557	-1.1325	10	0.36615	T	0.2	-10.6008	14.923	0.70854	0.0:0.0:0.0:1.0	.	238;375	B4DWI3;Q99523	.;SORT_HUMAN	A	375;238	ENSP00000256637:T375A;ENSP00000438597:T238A	ENSP00000256637:T375A	T	-	1	0	SORT1	109685010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.820000	0.86633	2.170000	0.68504	0.529000	0.55759	ACA	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033179.1		-	ENST00000256637.6	Missense_Mutation	SNP	1 : 109883487 - 109883487 C PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	306	48
SYNE1	23345	broad.mit.edu	37	6	152651474	152651474	+	Silent	SNP	T	T	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr6:152651474T>C	ENST00000367255.5	-	78	14947	c.14346A>G	c.(14344-14346)gaA>gaG	p.E4782E	SYNE1_ENST00000448038.1_Silent_p.E4711E|SYNE1_ENST00000341594.5_Silent_p.E4529E|SYNE1_ENST00000423061.1_Silent_p.E4711E|SYNE1_ENST00000265368.4_Silent_p.E4782E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4782					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCTCGTGTTCTTGGTAAG	0.478		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	97	101			NA	NA	6		NA											NA				152651474		2203	4300	6503	SO:0001819	synonymous_variant			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14346A>G	6.37:g.152651474T>C		NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2																																																																																			SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Silent	SNP	6 : 152651474 - 152651474 C PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	349	14
TBX3	6926	broad.mit.edu	37	12	115112388	115112388	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:115112388G>A	ENST00000349155.2	-	6	2255	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	TBX3_ENST00000257566.3_Missense_Mutation_p.A451V	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	451					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCGCTCCTCCGCGCCCAGGCC	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	12	11			NA	NA	12		NA											NA				115112388		2170	4223	6393	SO:0001583	missense			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111	6926	6926		T-boxes	11602	protein-coding gene	gene with protein product		601621	ulnar mammary syndrome	UMS	NA	8988164	Standard	NM_016569, NM_005996	NM_005996	NA	Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000349155.2:c.1292C>T	12.37:g.115112388G>A	ENSP00000257567:p.Ala431Val	NA	Q8TB20|Q9UKF8	37	CCDS9175.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490947	0.44249	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87103	-2.21;-2.2	5.14	1.42	0.22433	.	6.239900	0.01621	U	0.023007	T	0.75184	0.3815	N	0.22421	0.69	0.26006	N	0.982051	B;B	0.34349	0.45;0.043	B;B	0.23852	0.049;0.007	T	0.67094	-0.5757	10	0.17369	T	0.5	.	5.0234	0.14372	0.2845:0.2671:0.4484:0.0	.	431;451	O15119-2;O15119	.;TBX3_HUMAN	V	431;451;451	ENSP00000257567:A431V;ENSP00000257566:A451V	ENSP00000257566:A451V	A	-	2	0	TBX3	113596771	0.352000	0.24895	0.749000	0.31150	0.723000	0.41478	1.286000	0.33273	1.175000	0.42826	-0.191000	0.12829	GCG	TBX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404945.1		-	ENST00000349155.2	Missense_Mutation	SNP	12 : 115112388 - 115112388 A PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	64	6
TRIM37	4591	broad.mit.edu	37	17	57158534	57158534	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr17:57158534T>A	ENST00000262294.7	-	6	675	c.416A>T	c.(415-417)cAc>cTc	p.H139L	TRIM37_ENST00000393065.2_Missense_Mutation_p.H105L|TRIM37_ENST00000376149.3_Missense_Mutation_p.H17L|TRIM37_ENST00000393066.3_Missense_Mutation_p.H139L	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	139						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTAGTGACGTGTTGCTCATA	0.373		NA							Mulibrey Nanism					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	115	116			NA	NA	17		NA											NA				57158534		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395	4591	4591		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	7523	protein-coding gene	gene with protein product	RING-B-box-coiled-coil protein	605073	tripartite motif-containing 37	MUL	NA	9106536, 10888877	Standard	NM_015294	NM_015294	NA	Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.416A>T	17.37:g.57158534T>A	ENSP00000262294:p.His139Leu	NA	Q7Z3E6|Q8IYF7|Q8WYF7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079159	0.94050	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.68479	0.57;0.57;-0.33;0.57	5.62	5.62	0.85841	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.81682	2.555	0.80722	D	1	D;D;B	0.89917	0.994;1.0;0.128	D;D;B	0.83275	0.949;0.996;0.138	D	0.84263	0.0484	10	0.59425	D	0.04	-21.7933	14.6613	0.68873	0.0:0.0:0.0:1.0	.	105;17;139	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	L	139;139;17;105	ENSP00000376785:H139L;ENSP00000262294:H139L;ENSP00000365319:H17L;ENSP00000376784:H105L	ENSP00000262294:H139L	H	-	2	0	TRIM37	54513316	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.864000	0.87037	2.150000	0.67090	0.528000	0.53228	CAC	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445930.1		-	ENST00000262294.7	Missense_Mutation	SNP	17 : 57158534 - 57158534 A PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	892	50
ZNF484	83744	broad.mit.edu	37	9	95610736	95610736	+	Silent	SNP	T	T	C			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr9:95610736T>C	ENST00000375495.3	-	5	481	c.333A>G	c.(331-333)ccA>ccG	p.P111P	ZNF484_ENST00000395505.2_Silent_p.P75P|ZNF484_ENST00000332591.6_Silent_p.P75P|ZNF484_ENST00000395506.3_Silent_p.P113P|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAATGGAATATGGGTCATCTC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													117	119	118			NA	NA	9		NA											NA				95610736		2203	4300	6503	SO:0001819	synonymous_variant			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081	83744	83744		Zinc fingers, C2H2-type, -	23385	protein-coding gene	gene with protein product					NA		Standard	XM_046861	NM_001007101	NA	Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.333A>G	9.37:g.95610736T>C		NA		37	CCDS35066.1																																																																																			ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053111.2		-	ENST00000375495.3	Silent	SNP	9 : 95610736 - 95610736 C PAAD-TCGA-F2-A44H-Tumor-SM-47KL1	639	103
