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
SBF2	81846	broad.mit.edu	37	11	10019923	10019924	+	In_Frame_Ins	INS	-	-	AGACTCAATCAGCTCTTTCTTTGGTATGACATATTTTTGTAATAG			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr11:10019923_10019924insAGACTCAATCAGCTCTTTCTTTGGTATGACATATTTTTGTAATAG	ENST00000256190.8	-	9	1001_1002	c.864_865insCTATTACAAAAATATGTCATACCAAAGAAAGAGCTGATTGAGTCT	c.(862-867)ttagat>ttaCTATTACAAAAATATGTCATACCAAAGAAAGAGCTGATTGAGTCTgat	p.288_289LD>LLLQKYVIPKKELIESD	SBF2_ENST00000527019.1_Intron	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	288	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATGATTACATCTAACTGAAAGA	0.337		NA											False	0	False	11:10019923	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
PPP2R5C	5527	broad.mit.edu	37	14	102349889	102349890	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr14:102349889_102349890insT	ENST00000334743.5	+	5	667_668	c.619_620insT	c.(619-621)atafs	p.I207fs	PPP2R5C_ENST00000422945.2_Frame_Shift_Ins_p.I238fs|PPP2R5C_ENST00000350249.3_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000557095.1_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000445439.3_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000328724.5_Frame_Shift_Ins_p.I262fs	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	207					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GATAAATAATATATTTTATAGG	0.45		NA											False	1	True	14:102349889	0
MORF4L1	10933	broad.mit.edu	37	15	79179690	79179691	+	Splice_Site	INS	-	-	TAATGTCAACATAAAATGAGCATTTA			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr15:79179690_79179691insTAATGTCAACATAAAATGAGCATTTA	ENST00000379535.4	+	6	961_962	c.397_398insTAATGTCAACATAAAATGAGCATTTA	c.(397-399)gtg>gTAATGTCAACATAAAATGAGCATTTAtg	p.-133fs	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000559345.1_Splice_Site_p.-20fs|MORF4L1_ENST00000558502.1_Splice_Site_p.-20fs|MORF4L1_ENST00000331268.5_Splice_Site_p.-147fs|MORF4L1_ENST00000426013.2_Splice_Site_p.-108fs			Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	NA					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AAATGTTGAAGTGTAAGAAGCT	0.371		NA											False	0	False	15:79179690	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
HNF1B	6928	broad.mit.edu	37	17	36065034	36065035	+	Frame_Shift_Ins	INS	-	-	GGGAGAAGAAGAATGGGAAGCAAATT			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:36065034_36065035insGGGAGAAGAAGAATGGGAAGCAAATT	ENST00000560016.1	-	6	1361_1362	c.1228_1229insAATTTGCTTCCCATTCTTCTTCTCCC	c.(1228-1230)ttgfs	p.L410fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.L384fs|HNF1B_ENST00000427275.2_Frame_Shift_Ins_p.L384fs|HNF1B_ENST00000225893.4_Frame_Shift_Ins_p.L410fs			P35680	HNF1B_HUMAN	HNF1 homeobox B	410					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GACTGGGGGCAAACCTCCTCCT	0.495		NA											False	0	True	17:36065034	0
TMPRSS11E	28983	broad.mit.edu	37	4	69362479	69362480	+	In_Frame_Ins	INS	-	-	CACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAG			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:69362479_69362480insCACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAG	ENST00000305363.4	+	10	1293_1294	c.1229_1230insCACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAG	c.(1228-1233)gttacg>gtCACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAGtacg	p.411_412insLKEKTEISNS*FST		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	411	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TATACTAGAGTTACGGCCTTGC	0.436		NA											False	0	False	4:69362479	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
DIO1	1733	broad.mit.edu	37	1	54370396	54370397	+	Frame_Shift_Ins	INS	-	-	TTCTGTT			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:54370396_54370397insTTCTGTT	ENST00000361921.3	+	2	419_420	c.395_396insTTCTGTT	c.(394-399)aaatttfs	p.KF132fs	DIO1_ENST00000388876.3_Intron|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.KF132fs|DIO1_ENST00000524406.1_Frame_Shift_Ins_p.KF3fs|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.KF68fs|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	132					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TTTATGTTCAAATTTGACCAGT	0.391		NA											False	0	True	1:54370396	0
ABCB5	340273	broad.mit.edu	37	7	20744419	20744419	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:20744419C>A	ENST00000404938.2	+	20	3062	c.2410C>A	c.(2410-2412)Caa>Aaa	p.Q804K	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q359K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	359	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATATAGCACAAATTCAAGG	0.363		NA											False	0	True	7:20744419	0
SHROOM4	57477	broad.mit.edu	37	X	50378665	50378665	+	Silent	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:50378665G>A	ENST00000376020.2	-	4	433	c.408C>T	c.(406-408)gaC>gaT	p.D136D	SHROOM4_ENST00000460112.3_Silent_p.D20D|SHROOM4_ENST00000289292.7_Silent_p.D136D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	136					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACACACACGTCACTGTAAG	0.572		NA											False	0	True	X:50378665	0
DMBT1	1755	broad.mit.edu	37	10	124389416	124389416	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr10:124389416C>A	ENST00000338354.3	+	44	5448	c.5342C>A	c.(5341-5343)tCc>tAc	p.S1781Y	DMBT1_ENST00000359586.6_Missense_Mutation_p.S501Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1781Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1153Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1153Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1781	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCAGCCCATCCTACCCTGCA	0.458		NA											False	0	False	10:124389416	0
SLC9A5	6553	broad.mit.edu	37	16	67298340	67298340	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr16:67298340G>A	ENST00000299798.11	+	13	1993	c.1928G>A	c.(1927-1929)cGg>cAg	p.R643Q		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	643					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R643Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AACATGAAGCGGCGGCTGGAG	0.577		NA											False	0	False	16:67298340	0
MYH7	4625	broad.mit.edu	37	14	23886078	23886078	+	Splice_Site	SNP	T	T	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr14:23886078T>A	ENST00000355349.3	-	33	4805	c.4643A>T	c.(4642-4644)gAg>gTg	p.E1548V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1548					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)		CACACACACCTCGGCCTCCTC	0.592		NA											False	0	False	14:23886078	0
SMAD4	4089	broad.mit.edu	37	18	48604785	48604785	+	Missense_Mutation	SNP	T	T	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr18:48604785T>C	ENST00000342988.3	+	12	2145	c.1607T>C	c.(1606-1608)cTa>cCa	p.L536P	SMAD4_ENST00000398417.2_Missense_Mutation_p.L536P|SMAD4_ENST00000588745.1_Missense_Mutation_p.L440P|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	536	MH2.				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.?(2)|p.L536fs*11(1)|p.L536Q(1)|p.L536fs*14(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)		CTCCAGCTCCTAGACGAAGTA	0.488		NA											False	0	False	18:48604785	0
BTBD11	121551	broad.mit.edu	37	12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:108045467A>C	ENST00000280758.5	+	16	3536	c.3008A>C	c.(3007-3009)aAg>aCg	p.K1003T	BTBD11_ENST00000420571.2_Missense_Mutation_p.K884T|BTBD11_ENST00000494235.2_Missense_Mutation_p.K82T|BTBD11_ENST00000357167.4_Missense_Mutation_p.K540T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1003						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTGCTGCTAAGTTTTTCCAG	0.438		NA											False	0	False	12:108045467	0
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333		NA											False	0	True	16:18887699	0
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:7578268A>T	ENST00000420246.2	-	6	713	c.581T>A	c.(580-582)cTt>cAt	p.L194H	TP53_ENST00000455263.2_Missense_Mutation_p.L194H|TP53_ENST00000445888.2_Missense_Mutation_p.L194H|TP53_ENST00000359597.4_Missense_Mutation_p.L194H|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.L194H|TP53_ENST00000269305.4_Missense_Mutation_p.L194H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)		CACTCGGATAAGATGCTGAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578268	0
DCHS2	54798	broad.mit.edu	37	4	155219098	155219098	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:155219098G>A	ENST00000357232.4	-	18	5002	c.5003C>T	c.(5002-5004)aCg>aTg	p.T1668M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	NA	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGAGACCCGTGGTTGTCCT	0.453		NA											False	0	True	4:155219098	0
DLGAP2	9228	broad.mit.edu	37	8	1581003	1581003	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:1581003C>T	ENST00000421627.2	+	5	1495	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	533					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GTGAGCGAGGCGGAGATCAAT	0.577		NA											False	0	False	8:1581003	0
DNAH7	56171	broad.mit.edu	37	2	196674543	196674543	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr2:196674543G>A	ENST00000312428.6	-	52	9914	c.9814C>T	c.(9814-9816)Cgg>Tgg	p.R3272W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3272					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGAGTGACCGGCAGACATTA	0.353		NA											False	0	False	2:196674543	0
MAGEC1	9947	broad.mit.edu	37	X	140993257	140993257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:140993257C>T	ENST00000285879.4	+	4	353	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	23							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGTCCTCAGAGTTGTCC	0.567		NA								HNSCC(15;0.026)			False	0	False	X:140993257	0
ATP2B3	492	broad.mit.edu	37	X	152808544	152808544	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:152808544C>T	ENST00000370186.1	+	6	1160	c.834C>T	c.(832-834)gcC>gcT	p.A278A	ATP2B3_ENST00000370181.2_Silent_p.A278A|ATP2B3_ENST00000349466.2_Silent_p.A278A|ATP2B3_ENST00000393842.1_Silent_p.A278A|ATP2B3_ENST00000359149.3_Silent_p.A278A|ATP2B3_ENST00000263519.4_Silent_p.A278A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	278					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGACCGCCGTTGGCGTGA	0.532		NA											False	0	False	X:152808544	0
PADI3	51702	broad.mit.edu	37	1	17593247	17593247	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:17593247G>A	ENST00000375460.3	+	5	482	c.442G>A	c.(442-444)Ggc>Agc	p.G148S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	148					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGGTATGGCGGCATCTTGCT	0.597		NA											False	0	False	1:17593247	0
DRD5	0	broad.mit.edu	37	4	9784063	9784063	+	Missense_Mutation	SNP	A	A	G			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:9784063A>G	ENST00000304374.2	+	1	806	c.410A>G	c.(409-411)gAc>gGc	p.D137G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	137					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.D137G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCAGCGTGGACCGCTACTGG	0.612		NA											False	0	False	4:9784063	0
LEPR	3953	broad.mit.edu	37	1	66102496	66102496	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:66102496G>A	ENST00000349533.6	+	20	3481	c.3296G>A	c.(3295-3297)aGg>aAg	p.R1099K	LEPR_ENST00000406510.3_Missense_Mutation_p.R166K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1099					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GACAAGTCAAGGGTATCGTGC	0.398		NA											False	0	True	1:66102496	0
AZGP1	563	broad.mit.edu	37	7	99564799	99564799	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:99564799C>T	ENST00000292401.4	-	4	860	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	242	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACCTCGCCGGCCCGAGTCCAG	0.582		NA											False	0	True	7:99564799	0
ACTL9	284382	broad.mit.edu	37	19	8808041	8808041	+	Silent	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr19:8808041G>A	ENST00000324436.3	-	1	1131	c.1011C>T	c.(1009-1011)aaC>aaT	p.N337N		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	337						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGAGAAGCACGTTTTGGGCCA	0.672		NA											False	0	True	19:8808041	0
ANKRD39	51239	broad.mit.edu	37	2	97523690	97523690	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr2:97523690C>A	ENST00000393537.4	-	1	142	c.35G>T	c.(34-36)tGc>tTc	p.C12F		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	12										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						ATGCGAGCAGCAGGGCCCGTC	0.741		NA											False	0	False	2:97523690	0
RUNX1T1	862	broad.mit.edu	37	8	92983007	92983007	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:92983007C>T	ENST00000523629.1	-	11	1872	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R484Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R473Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	473					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGGGCTTTCCGCTCCGCCTC	0.617		NA											False	0	True	8:92983007	0
DNAI2	64446	broad.mit.edu	37	17	72277972	72277972	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:72277972G>A	ENST00000579490.1	+	1	322	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	DNAI2_ENST00000311014.6_Missense_Mutation_p.V6M|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.V6M|DNAI2_ENST00000446837.2_Missense_Mutation_p.V6M			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	6					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GATTGTGTACGTGTACGTCAA	0.632		NA							Kartagener syndrome				False	0	True	17:72277972	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	12:25380275	0
PFKL	5211	broad.mit.edu	37	21	45744744	45744744	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr21:45744744C>T	ENST00000403390.1	+	19	1962	c.1962C>T	c.(1960-1962)aaC>aaT	p.N654N	PFKL_ENST00000349048.4_Silent_p.N607N			P17858	K6PL_HUMAN	phosphofructokinase, liver	607					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCAGGTCAACGTGGAGCACA	0.662		NA											False	0	False	21:45744744	0
ABCB1	5243	broad.mit.edu	37	7	87138667	87138667	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:87138667C>A	ENST00000265724.3	-	27	3830	c.3413G>T	c.(3412-3414)cGg>cTg	p.R1138L	ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074L|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1138	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TGACACCACCCGGCTGTTGTC	0.512		NA											False	0	True	7:87138667	0
SRC	6714	broad.mit.edu	37	20	36014538	36014538	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr20:36014538C>T	ENST00000373578.2	+	5	660	c.311C>T	c.(310-312)tCc>tTc	p.S104F	SRC_ENST00000373567.2_Missense_Mutation_p.S104F|SRC_ENST00000358208.4_Missense_Mutation_p.S104F|SRC_ENST00000360723.4_Missense_Mutation_p.S104F|SRC_ENST00000373558.2_Missense_Mutation_p.S104F|SRC_ENST00000445403.1_Missense_Mutation_p.S104F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	104	SH3.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	ACAGACCTGTCCTTCAAGAAA	0.592		NA											False	0	False	20:36014538	0
SSBP4	170463	broad.mit.edu	37	19	18545046	18545046	+	Missense_Mutation	SNP	T	T	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr19:18545046T>C	ENST00000270061.7	+	18	1442	c.1148T>C	c.(1147-1149)aTg>aCg	p.M383T	SSBP4_ENST00000599699.2_Missense_Mutation_p.M69T|SSBP4_ENST00000348495.6_Missense_Mutation_p.M361T	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	NA						nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						GGGATGACCATGAGCGTGTGA	0.716		NA											False	0	False	19:18545046	0
RCSD1	92241	broad.mit.edu	37	1	167666774	167666774	+	Missense_Mutation	SNP	G	G	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:167666774G>T	ENST00000367854.3	+	6	1244	c.913G>T	c.(913-915)Gct>Tct	p.A305S	RCSD1_ENST00000537350.1_Missense_Mutation_p.A275S	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	305	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGAAAAGCCAGCTGGAGAGGA	0.582		NA											False	0	False	1:167666774	0
AARD	441376	broad.mit.edu	37	8	117950573	117950573	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:117950573C>T	ENST00000378279.3	+	1	136	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	31											NA						GTTCCCACCTCGTCCCGCGTG	0.687		NA											False	0	False	8:117950573	0
KRAS	3845	broad.mit.edu	37	12	25380272	25380272	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:25380272C>T	ENST00000311936.3	-	3	377	c.186G>A	c.(184-186)gaG>gaA	p.E62E	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Silent_p.E62E	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	62					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.E62D(1)|p.E62_S65>D(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)			CACTGTACTCCTCTTGACCTG	0.423		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	12:25380272	0
NBEAL2	23218	broad.mit.edu	37	3	47048744	47048744	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr3:47048744C>T	ENST00000450053.3	+	47	7417	c.7238C>T	c.(7237-7239)gCc>gTc	p.A2413V	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2229V|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A662V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2413							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACTGTGAGTGCCAGTGGGCTG	0.597		NA											False	0	False	3:47048744	0
FRMPD2	143162	broad.mit.edu	37	10	49392828	49392828	+	Missense_Mutation	SNP	G	G	A	rs34002506	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr10:49392828G>A	ENST00000374201.3	-	19	2758	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	FRMPD2_ENST00000305531.3_Missense_Mutation_p.T794M|FRMPD2_ENST00000407470.4_Missense_Mutation_p.T787M	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	819	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGGTTTGATCGTTTTTGCTTT	0.348		NA											False	0	True	10:49392828	0
ANK1	286	broad.mit.edu	37	8	41513269	41513269	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:41513269G>A	ENST00000347528.4	-	42	5706	c.5623C>T	c.(5623-5625)Cac>Tac	p.H1875Y	ANK1_ENST00000522231.1_Missense_Mutation_p.H125Y|ANK1_ENST00000396942.1_3'UTR|ANK1_ENST00000379758.2_Missense_Mutation_p.H1828Y|ANK1_ENST00000396945.1_Missense_Mutation_p.H1800Y|ANK1_ENST00000522543.1_Missense_Mutation_p.H150Y|ANK1_ENST00000314214.8_3'UTR|ANK1_ENST00000352337.4_3'UTR|ANK1_ENST00000265709.8_Missense_Mutation_p.H1891Y|ANK1_ENST00000457297.1_Missense_Mutation_p.H103Y|ANK1_ENST00000289734.7_3'UTR	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1875	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCGAGGTGTGATCCTGGGAG	0.567		NA											False	0	False	8:41513269	0
CCDC120	90060	broad.mit.edu	37	X	48923087	48923087	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:48923087C>A	ENST00000376396.3	+	8	1004	c.785C>A	c.(784-786)cCa>cAa	p.P262Q	CCDC120_ENST00000597275.1_Missense_Mutation_p.P262Q|CCDC120_ENST00000603986.1_Missense_Mutation_p.P297Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.P262Q|CCDC120_ENST00000536628.2_Missense_Mutation_p.P250Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.P262Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	262							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGGCGAACCCCATGGAAACCA	0.652		NA											False	0	True	X:48923087	0
