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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
ACRBP	84519	broad.mit.edu	37	12	6747481	6747483	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:6747481_6747483delCTC	ENST00000229243.2	-	10	1690_1692	c.1597_1599delGAG	c.(1597-1599)gagdel	p.E533del	ACRBP_ENST00000414226.2_In_Frame_Del_p.E500del	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	533						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGGTGCTGAACTCCTGGCTCCAT	0.542		NA											False	1	False	12:6747481	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
CLDN23	137075	broad.mit.edu	37	8	8560232	8560232	+	Silent	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:8560232G>A	ENST00000519106.1	+	1	785	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	108					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GGCAGGACGAGCCCAACTTCG	0.697		NA											False	0	True	8:8560232	0
MAP4K3	8491	broad.mit.edu	37	2	39526942	39526942	+	Splice_Site	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:39526942C>A	ENST00000263881.3	-	16	1444	c.1120G>T	c.(1120-1122)Gat>Tat	p.D374Y	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Splice_Site_p.D290Y|MAP4K3_ENST00000341681.5_Splice_Site_p.D353Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	374					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGTTGCAGATCCTAATAGTAC	0.264		NA											False	0	False	2:39526942	0
MORF4L2	9643	broad.mit.edu	37	X	102931572	102931572	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:102931572T>A	ENST00000423833.2	-	3	1609	c.384A>T	c.(382-384)gaA>gaT	p.E128D	MORF4L2_ENST00000441076.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E128D|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E128D			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	128					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						ATGGTTTTAATTCTTCAGGAA	0.478		NA											False	0	False	X:102931572	0
HJURP	55355	broad.mit.edu	37	2	234749480	234749480	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:234749480C>A	ENST00000411486.2	-	8	2011	c.1946G>T	c.(1945-1947)aGt>aTt	p.S649I	HJURP_ENST00000432087.1_Missense_Mutation_p.S595I|HJURP_ENST00000441687.1_Missense_Mutation_p.S564I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	649					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCCCAGTAGACTTTTTCTGCA	0.488		NA											False	0	True	2:234749480	0
DEPDC7	91614	broad.mit.edu	37	11	33050274	33050274	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:33050274T>C	ENST00000311388.3	+	4	1067	c.691T>C	c.(691-693)Tcc>Ccc	p.S231P	DEPDC7_ENST00000241051.3_Missense_Mutation_p.S240P	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	240					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAAGAGGCAGTCCACCATGGT	0.413		NA											False	0	False	11:33050274	0
IRS1	3667	broad.mit.edu	37	2	227660886	227660886	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:227660886G>A	ENST00000305123.5	-	1	3589	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	NA					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCGTGGGCCGGGCCAGGCGG	0.662		NA											False	0	True	2:227660886	0
AADACL3	126767	broad.mit.edu	37	1	12785321	12785321	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:12785321C>T	ENST00000332530.3	+	3	427	c.201C>T	c.(199-201)ttC>ttT	p.F67F	AADACL3_ENST00000359318.5_Silent_p.F137F	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	137							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACAGTTTCGGAGGGGCAA	0.572		NA											False	0	True	1:12785321	0
BEND3	57673	broad.mit.edu	37	6	107391539	107391539	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:107391539G>A	ENST00000429433.2	-	5	1505	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	BEND3_ENST00000369042.1_Missense_Mutation_p.R286W	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	286	BEN 1.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTGCAGCCCCGGGAGAAGTCC	0.637		NA											False	0	True	6:107391539	0
PCDHGA5	0	broad.mit.edu	37	5	140744450	140744450	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:140744450G>A	ENST00000518069.1	+	1	553	c.553G>A	c.(553-555)Gga>Aga	p.G185R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1				NA										endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTAAGCGGAACTGATGG	0.552		NA											False	0	False	5:140744450	0
LRRIQ1	84125	broad.mit.edu	37	12	85449402	85449402	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:85449402T>A	ENST00000393217.2	+	8	892	c.831T>A	c.(829-831)aaT>aaA	p.N277K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	277	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGAAAAAAATTCTTTGTTAA	0.279		NA											False	0	True	12:85449402	0
MYH9	4627	broad.mit.edu	37	22	36685180	36685180	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:36685180C>T	ENST00000216181.5	-	32	4738	c.4508G>A	c.(4507-4509)cGc>cAc	p.R1503H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1503					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATCTCCGTGCGGAACTGCTT	0.637		NA	T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				False	0	False	22:36685180	0
FZD7	8324	broad.mit.edu	37	2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	280					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662		NA									OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:202900208	0
FOXB2	442425	broad.mit.edu	37	9	79635329	79635329	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:79635329C>T	ENST00000376708.1	+	1	759	c.759C>T	c.(757-759)gcC>gcT	p.A253A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	253	Poly-Ala.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCTCGgccgccgccgctgccg	0.746		NA											False	0	True	9:79635329	0
SMAD4	4089	broad.mit.edu	37	18	48575159	48575159	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr18:48575159C>T	ENST00000342988.3	+	3	891	c.353C>T	c.(352-354)gCg>gTg	p.A118V	SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	118	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTCAGTATGCGTTTGACTTA	0.398		NA											False	0	False	18:48575159	0
CALD1	800	broad.mit.edu	37	7	134613527	134613527	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:134613527G>A	ENST00000361388.2	+	4	560	c.94G>A	c.(94-96)Gat>Aat	p.D32N	CALD1_ENST00000361901.2_Missense_Mutation_p.D32N|CALD1_ENST00000495522.1_Missense_Mutation_p.D26N|CALD1_ENST00000424922.1_Missense_Mutation_p.D26N|CALD1_ENST00000422748.1_Missense_Mutation_p.D32N|CALD1_ENST00000543443.1_Missense_Mutation_p.D37N|CALD1_ENST00000361675.2_Missense_Mutation_p.D32N|CALD1_ENST00000417172.1_Missense_Mutation_p.D32N|CALD1_ENST00000393118.2_Missense_Mutation_p.D26N	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	252	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAGGAATGACGATGATGAAGA	0.587		NA											False	0	False	7:134613527	0
GPR124	25960	broad.mit.edu	37	8	37693106	37693106	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:37693106C>T	ENST00000412232.2	+	13	1881	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	623					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGCTGCCCCCGAGTCTATTC	0.647		NA											False	0	True	8:37693106	0
NPC1	4864	broad.mit.edu	37	18	21121386	21121386	+	Missense_Mutation	SNP	C	C	T	rs146874573		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr18:21121386C>T	ENST00000269228.5	-	15	2811	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.V435M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	753	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCTGGCATCACGGACAATGCT	0.512		NA											False	0	False	18:21121386	0
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	rs137852790		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr17:7578478G>C	ENST00000420246.2	-	5	584	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000269305.4_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GCCGGGCGGGGGTGTGGAATC	0.607		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)			False	0	True	17:7578478	0
GATA2	2624	broad.mit.edu	37	3	128199973	128199973	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:128199973C>T	ENST00000341105.2	-	6	1663	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	GATA2_ENST00000487848.1_Silent_p.P444P|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.P430P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	444					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P444P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCTGAAGGGCGGGAGGTGGC	0.657		NA	Mis		AML(CML blast transformation)								False	0	True	3:128199973	0
BMP5	653	broad.mit.edu	37	6	55739380	55739380	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:55739380T>A	ENST00000370830.3	-	1	982	c.284A>T	c.(283-285)gAa>gTa	p.E95V	BMP5_ENST00000446683.2_Missense_Mutation_p.E95V	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	95					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCGACTCTTCAGGATTTTC	0.507		NA											False	0	False	6:55739380	0
ABCB6	10058	broad.mit.edu	37	2	220078577	220078577	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:220078577C>T	ENST00000265316.3	-	9	1865	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	517	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAAAGTATGCGCAAAGCAGG	0.562		NA											False	0	False	2:220078577	0
RELN	5649	broad.mit.edu	37	7	103194237	103194237	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:103194237C>A	ENST00000428762.1	-	39	5998	c.5839G>T	c.(5839-5841)Gat>Tat	p.D1947Y	RELN_ENST00000343529.5_Missense_Mutation_p.D1947Y|RELN_ENST00000424685.2_Missense_Mutation_p.D1947Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1947					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTATTTCCATCGATAATGAAG	0.358		NA											False	0	False	7:103194237	0
AMPD3	272	broad.mit.edu	37	11	10503680	10503680	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:10503680C>T	ENST00000444303.2	+	3	492	c.20C>T	c.(19-21)gCg>gTg	p.A7V	AMPD3_ENST00000396554.3_Missense_Mutation_p.A175V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	166					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GAGAAGTATGCGCGGCTCGCC	0.607		NA											False	0	False	11:10503680	0
ADCY10	55811	broad.mit.edu	37	1	167802257	167802257	+	Silent	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:167802257C>A	ENST00000367848.1	-	25	3782	c.3285G>T	c.(3283-3285)gtG>gtT	p.V1095V	ADCY10_ENST00000367851.4_Silent_p.V1187V|ADCY10_ENST00000545172.1_Silent_p.V1034V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1187					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTGCCGATTCACATAATGAA	0.488		NA											False	0	False	1:167802257	0
LRRIQ4	344657	broad.mit.edu	37	3	169550783	169550783	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:169550783G>A	ENST00000340806.6	+	4	1342	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	448										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGCTTTGAAAGAATTACGGCT	0.403		NA											False	0	True	3:169550783	0
FLG	2312	broad.mit.edu	37	1	152285654	152285654	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:152285654G>T	ENST00000368799.1	-	3	1743	c.1708C>A	c.(1708-1710)Caa>Aaa	p.Q570K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	570	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCGTGTTTGTCTGCTTGCA	0.537		NA							Ichthyosis				False	0	True	1:152285654	0
NPEPL1	79716	broad.mit.edu	37	20	57268896	57268896	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr20:57268896G>A	ENST00000356091.6	+	2	542	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.R57Q|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R37Q	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	85					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AGGGTGAGCCGGCACAACAGC	0.682		NA											False	0	False	20:57268896	0
CECR1	51816	broad.mit.edu	37	22	17662742	17662742	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:17662742C>T	ENST00000399839.1	-	9	1680	c.1410G>A	c.(1408-1410)agG>agA	p.R470R	CECR1_ENST00000399837.2_Silent_p.R470R|CECR1_ENST00000262607.3_Silent_p.R470R|CECR1_ENST00000449907.2_Silent_p.R428R|CECR1_ENST00000330232.4_Silent_p.R229R	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	470					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTTTGAGGGTCCTCAGGTCAG	0.547		NA											False	0	False	22:17662742	0
ADAM7	8756	broad.mit.edu	37	8	24324330	24324330	+	Silent	SNP	C	C	T	rs143068519	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:24324330C>T	ENST00000175238.6	+	6	491	c.408C>T	c.(406-408)aaC>aaT	p.N136N	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.N136N|ADAM7_ENST00000441335.2_Silent_p.N136N|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	136					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCAGAATAAACGACCAAAGAT	0.373		NA											False	0	True	8:24324330	0
MAGEB10	139422	broad.mit.edu	37	X	27839749	27839749	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:27839749G>T	ENST00000356790.2	+	3	571	c.326G>T	c.(325-327)gGc>gTc	p.G109V		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	109										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TTTCCCAGAGGCCCTGTAGAT	0.433		NA											False	0	True	X:27839749	0
NDUFV3	4731	broad.mit.edu	37	21	44317096	44317096	+	Silent	SNP	G	G	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr21:44317096G>T	ENST00000340344.4	+	2	174	c.108G>T	c.(106-108)gcG>gcT	p.A36A	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Silent_p.A36A	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NA					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CTTTGTCTGCGGAATCAGGGA	0.418		NA											False	0	False	21:44317096	0
C4orf17	84103	broad.mit.edu	37	4	100460359	100460359	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:100460359C>T	ENST00000514652.1	+	7	1022	c.668C>T	c.(667-669)gCc>gTc	p.A223V	C4orf17_ENST00000326581.4_Missense_Mutation_p.A223V			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	223								p.A223V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCTGAGCTTGCCGAGATAAAC	0.433		NA											False	0	False	4:100460359	0
FAM84B	157638	broad.mit.edu	37	8	127569401	127569401	+	Silent	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:127569401C>A	ENST00000304916.3	-	2	689	c.234G>T	c.(232-234)ctG>ctT	p.L78L	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	78						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CCACCTCGTGCAGCCGCGGAT	0.716		NA											False	0	False	8:127569401	0
UGT2B17	7367	broad.mit.edu	37	4	69416515	69416515	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:69416515G>A	ENST00000317746.2	-	5	1235	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	398					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATGTTGATCCGCAAACAAGGG	0.463		NA											False	0	False	4:69416515	0
KHSRP	8570	broad.mit.edu	37	19	6417818	6417818	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr19:6417818A>G	ENST00000398148.3	-	11	1105	c.1013T>C	c.(1012-1014)aTt>aCt	p.I338T		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	338	Gly-rich.|KH 3.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						ACTCCGGCCAATGACCACGCC	0.642		NA									OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:6417818	0
CLVS1	157807	broad.mit.edu	37	8	62212502	62212502	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:62212502G>A	ENST00000519846.1	+	3	588	c.116G>A	c.(115-117)cGc>cAc	p.R39H	CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	39					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGAAAGCTCGCCTGGAACTG	0.433		NA											False	0	False	8:62212502	0
NT5E	4907	broad.mit.edu	37	6	86197162	86197162	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	353					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413		NA											False	0	False	6:86197162	0
CADM1	23705	broad.mit.edu	37	11	115047275	115047275	+	Silent	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:115047275G>A	ENST00000452722.3	-	10	1268	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	CADM1_ENST00000542447.2_Silent_p.D388D|CADM1_ENST00000537058.1_Silent_p.D427D|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Silent_p.D417D|CADM1_ENST00000331581.6_Silent_p.D445D	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	NA					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.D416D(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CGTCTGCTGCGTCATCGGCTC	0.453		NA											False	0	False	11:115047275	0
PARL	55486	broad.mit.edu	37	3	183547482	183547482	+	Silent	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423		NA											False	0	True	3:183547482	0
ENTPD4	9583	broad.mit.edu	37	8	23297388	23297388	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:23297388C>A	ENST00000358689.4	-	9	1158	c.923G>T	c.(922-924)gGa>gTa	p.G308V	ENTPD4_ENST00000417069.2_Missense_Mutation_p.G300V|ENTPD4_ENST00000356206.6_Missense_Mutation_p.G300V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	308					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AACATCACATCCCAAGTTAAA	0.403		NA											False	0	True	8:23297388	0
MED15	51586	broad.mit.edu	37	22	20939239	20939239	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:20939239T>C	ENST00000263205.7	+	15	1970	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	MED15_ENST00000292733.7_Missense_Mutation_p.F594S|MED15_ENST00000406969.1_Missense_Mutation_p.F568S|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.F523S|MED15_ENST00000541476.1_Missense_Mutation_p.F568S|MED15_ENST00000425759.2_Missense_Mutation_p.F483S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	634					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCACCTGTCTTCAACCATTCC	0.647		NA											False	0	False	22:20939239	0
ALDH1A1	216	broad.mit.edu	37	9	75531895	75531895	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:75531895G>A	ENST00000297785.3	-	9	1030	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	ALDH1A1_ENST00000376939.1_3'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	326					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTCTTAGCCCGCTCAACACTC	0.458		NA											False	0	True	9:75531895	0
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522		NA											False	0	False	4:186544317	0
CMYA5	202333	broad.mit.edu	37	5	79084856	79084856	+	Missense_Mutation	SNP	T	T	G	rs146960317	by1000genomes	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:79084856T>G	ENST00000446378.2	+	10	11649	c.11618T>G	c.(11617-11619)tTt>tGt	p.F3873C	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3873	Fibronectin type-III 2.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATAACTACTTTTTCTATGTG	0.393		NA											False	0	True	5:79084856	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097										NA								p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463		NA											False	0	True	15:20644850	0
UBR4	23352	broad.mit.edu	37	1	19488970	19488970	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:19488970A>G	ENST00000375267.2	-	35	4903	c.4900T>C	c.(4900-4902)Tca>Cca	p.S1634P	UBR4_ENST00000375254.3_Missense_Mutation_p.S1634P|UBR4_ENST00000375217.2_Missense_Mutation_p.S1634P|UBR4_ENST00000375226.2_Missense_Mutation_p.S1634P			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1634					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)		ACCCAGTCTGAGTCTACTTCA	0.507		NA											False	0	False	1:19488970	0
FBXL6	26233	broad.mit.edu	37	8	145580129	145580129	+	Silent	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:145580129T>A	ENST00000331890.5	-	7	1120	c.1056A>T	c.(1054-1056)ggA>ggT	p.G352G	FBXL6_ENST00000455319.2_Silent_p.G346G|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	352					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGAAGCCTGGTCCGGGAGCCA	0.652		NA											False	0	False	8:145580129	0
ACSBG1	23205	broad.mit.edu	37	15	78500376	78500376	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr15:78500376T>A	ENST00000258873.4	-	2	405	c.200A>T	c.(199-201)gAg>gTg	p.E67V	ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	67					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATTCACCTTCTCTGGCACTGA	0.597		NA											False	0	False	15:78500376	0
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428		NA	Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			False	0	False	20:57484420	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	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_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_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)			False	0	False	12:25398284	0
SACM1L	22908	broad.mit.edu	37	3	45751115	45751115	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:45751115C>T	ENST00000389061.5	+	5	663	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Silent_p.F92F|SACM1L_ENST00000418611.1_Silent_p.F50F	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	153	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTCCTGAATTCCAAGAAATGA	0.343		NA											False	0	False	3:45751115	0
PNMA5	114824	broad.mit.edu	37	X	152159280	152159280	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562		NA											False	0	False	X:152159280	0
NBPF9	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A	rs558823		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9	NA										NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493		NA											False	0	True	1:144825409	0
NBPF9	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9	NA										NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498		NA											False	0	False	1:144825416	0
BAI1	575	broad.mit.edu	37	8	143603456	143603456	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:143603456G>A	ENST00000517894.1	+	21	4049	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1052H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1052					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATCCGCAAGCGCTTCCTCTGC	0.657		NA											False	0	False	8:143603456	0
IPO7	10527	broad.mit.edu	37	11	9459508	9459508	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:9459508G>A	ENST00000379719.3	+	21	2618	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	826					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TAATGATGTTGACTGTTTCTT	0.313		NA											False	0	False	11:9459508	0
CNTN4	152330	broad.mit.edu	37	3	3084848	3084848	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:3084848G>A	ENST00000397461.1	+	21	3082		c.e21+1		CNTN4_ENST00000397459.2_Splice_Site|CNTN4_ENST00000418658.1_Splice_Site|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Splice_Site|CNTN4_ENST00000358480.3_Splice_Site|CNTN4_ENST00000448906.2_Splice_Site	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	NA					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGAAAGCCACGTAAGAACAGA	0.428		NA											False	0	False	3:3084848	0
CACNA1D	776	broad.mit.edu	37	3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:53769492G>A	ENST00000288139.4	+	21	2891	c.2773G>A	c.(2773-2775)Gca>Aca	p.A925T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	NA					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627		NA											False	0	False	3:53769492	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394450	138394450	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:138394450G>A	ENST00000310018.2	-	21	2630	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A783V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A783V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	783					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCAAATACGGCAAAAATAAT	0.532		NA											False	0	False	7:138394450	0
