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
RPL22	6146	broad.mit.edu	37	1	6257817	6257818	+	Translation_Start_Site	INS	-	-	ACAGGAGCCATGGCGGCAGCGGAG			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:6257817_6257818insACAGGAGCCATGGCGGCAGCGGAG	ENST00000484532.1	-	0	0				RPL22_ENST00000234875.4_Splice_Site|RPL22_ENST00000497965.1_Splice_Site			P35268	RL22_HUMAN	ribosomal protein L22	NA					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386		NA	T	RUNX1	"""AML, CML"""								False	0	False	1:6257817	0
WDR47	22911	broad.mit.edu	37	1	109538263	109538265	+	In_Frame_Del	DEL	GAG	GAG	-	rs141474361	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:109538263_109538265delGAG	ENST00000369965.4	-	8	1891_1893	c.1631_1633delCTC	c.(1630-1635)cctcgt>cgt	p.P544del	WDR47_ENST00000361054.3_In_Frame_Del_p.P515del|WDR47_ENST00000357672.3_In_Frame_Del_p.P515del|WDR47_ENST00000400794.3_In_Frame_Del_p.P551del|WDR47_ENST00000369962.3_In_Frame_Del_p.P543del	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	543										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCAGGATTACGAGGAGTGCTTGT	0.374		NA											False	2	False	1:109538263	0
WDR47	22911	broad.mit.edu	37	1	109553956	109553957	+	Frame_Shift_Ins	INS	-	-	CCCAATG			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:109553956_109553957insCCCAATG	ENST00000369965.4	-	5	971_972	c.711_712insCATTGGG	c.(709-714)tgtgatfs	p.D238fs	WDR47_ENST00000361054.3_Frame_Shift_Ins_p.D210fs|WDR47_ENST00000357672.3_Frame_Shift_Ins_p.D210fs|WDR47_ENST00000400794.3_Frame_Shift_Ins_p.D245fs|WDR47_ENST00000369962.3_Frame_Shift_Ins_p.D238fs	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	238										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCCAAATCATCACAACCATTAC	0.376		NA											False	0	False	1:109553956	0
DCLRE1A	9937	broad.mit.edu	37	10	115609448	115609449	+	Frame_Shift_Ins	INS	-	-	AAGGTAA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:115609448_115609449insAAGGTAA	ENST00000361384.2	-	2	2332_2333	c.1415_1416insTTACCTT	c.(1414-1416)cagfs	p.Q472fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Ins_p.Q472fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	472	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACCCTTCTACCTGACTTTCAAA	0.317		NA						Other identified genes with known or suspected DNA repair function					False	0	False	10:115609448	0
USP47	55031	broad.mit.edu	37	11	11964112	11964113	+	Frame_Shift_Ins	INS	-	-	CGGA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:11964112_11964113insCGGA	ENST00000339865.5	+	19	3103_3104	c.2340_2341insCGGA	c.(2341-2343)gtgfs	p.V781fs	USP47_ENST00000527733.1_Frame_Shift_Ins_p.V849fs|USP47_ENST00000539466.1_De_novo_Start_InFrame|USP47_ENST00000399455.2_Frame_Shift_Ins_p.V869fs	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	869					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GCCTAAAGTCTGTGGAAGCTAT	0.446		NA											False	0	False	11:11964112	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
ANKRD49	54851	broad.mit.edu	37	11	94230103	94230104	+	In_Frame_Ins	INS	-	-	GTATTCCATCAT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:94230103_94230104insGTATTCCATCAT	ENST00000544253.1	+	2	362_363	c.244_245insGTATTCCATCAT	c.(244-246)gct>gGTATTCCATCATct	p.82_82A>GIPSS	ANKRD49_ENST00000544612.1_In_Frame_Ins_p.82_82A>GIPSS|ANKRD49_ENST00000540349.1_In_Frame_Ins_p.82_82A>GIPSS|ANKRD49_ENST00000302755.4_In_Frame_Ins_p.82_82A>GIPSS			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	82					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTTTGGGCTGCTGAAAAAAAT	0.396		NA											False	0	False	11:94230103	0
TAS2R19	259294	broad.mit.edu	37	12	11174668	11174669	+	Frame_Shift_Ins	INS	-	-	TGTT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:11174668_11174669insTGTT	ENST00000390673.2	-	1	550_551	c.502_503insAACA	c.(502-504)ttgfs	p.L168fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	168					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGCATTCCTCAATTTGATCTTC	0.391		NA											False	0	True	12:11174668	0
GPRC5A	0	broad.mit.edu	37	12	13061365	13061365	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:13061365delG	ENST00000014914.5	+	2	1072	c.182delG	c.(181-183)aggfs	p.R62fs	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	62						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GACTCCAACAGGCGAAAAATG	0.587		NA											False	2	False	12:13061365	0
C12orf60	144608	broad.mit.edu	37	12	14976418	14976419	+	Frame_Shift_Del	DEL	TA	TA	-	rs10556010		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:14976418_14976419delTA	ENST00000330828.2	+	2	753_754	c.549_550delTA	c.(547-552)actatgfs	p.M184fs	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAACCACTATGATAGACAC	0.401		NA											False	1	False	12:14976418	0
LEMD3	23592	broad.mit.edu	37	12	65634838	65634839	+	Frame_Shift_Ins	INS	-	-	ATCTGAGG			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:65634838_65634839insATCTGAGG	ENST00000308330.2	+	9	2302_2303	c.2276_2277insATCTGAGG	c.(2275-2280)gttatafs	p.I760fs		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	760	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AAAATATTAGTTATACCTTCTA	0.351		NA											False	0	False	12:65634838	0
USP30	84749	broad.mit.edu	37	12	109510153	109510154	+	Frame_Shift_Ins	INS	-	-	TTTCT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:109510153_109510154insTTTCT	ENST00000392784.2	+	9	1106_1107	c.530_531insTTTCT	c.(529-534)agagggfs	p.RG177fs	USP30_ENST00000257548.5_Frame_Shift_Ins_p.RG208fs			Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	208					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TGCCGCACAAGAGGTAGCTGTT	0.332		NA											False	0	False	12:109510153	0
ZMYM2	7750	broad.mit.edu	37	13	20567380	20567381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:20567380_20567381insA	ENST00000382881.3	+	3	412_413	c.168_169insA	c.(169-171)gatfs	p.D57fs	ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382874.2_Frame_Shift_Ins_p.D57fs			Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAGTGGAAGATGATGATGATGT	0.396		NA											False	0	True	13:20567380	0
ZMYM2	7750	broad.mit.edu	37	13	20567381	20567382	+	Frame_Shift_Ins	INS	-	-	AAAAAAGAATTAAA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:20567381_20567382insAAAAAAGAATTAAA	ENST00000382881.3	+	3	413_414	c.169_170insAAAAAAGAATTAAA	c.(169-171)gatfs	p.D57fs	ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382874.2_Frame_Shift_Ins_p.D57fs			Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGTGGAAGATGATGATGATGTT	0.391		NA											False	0	True	13:20567381	0
MIPEP	4285	broad.mit.edu	37	13	24444305	24444306	+	Frame_Shift_Ins	INS	-	-	CAGTGATAATATAATAGTATCC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:24444305_24444306insCAGTGATAATATAATAGTATCC	ENST00000382172.3	-	6	730_731	c.632_633insGGATACTATTATATTATCACTG	c.(631-633)aaafs	p.-211fs		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	NA					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AATCCAAGATTTTAACATTGAG	0.332		NA											False	0	True	13:24444305	0
BAZ1A	11177	broad.mit.edu	37	14	35240863	35240864	+	Frame_Shift_Ins	INS	-	-	TATTAGTTGT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:35240863_35240864insTATTAGTTGT	ENST00000358716.4	-	20	3625_3626	c.3058_3059insACAACTAATA	c.(3058-3060)cttfs	p.L1020fs	BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.L1052fs|BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.L1052fs	NM_182648.1	NP_872589.1	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1052					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TATCCCCAAAAGTCTACAATTA	0.332		NA											False	0	True	14:35240863	0
WDHD1	11169	broad.mit.edu	37	14	55467351	55467352	+	Frame_Shift_Ins	INS	-	-	TGGAAAATTA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:55467351_55467352insTGGAAAATTA	ENST00000360586.3	-	10	876_877	c.811_812insTAATTTTCCA	c.(811-813)gagfs	p.E271fs	WDHD1_ENST00000420358.2_Frame_Shift_Ins_p.E148fs|WDHD1_ENST00000421192.1_Frame_Shift_Ins_p.E148fs	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	271						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATAACCTTTCTCATGTTTCACC	0.327		NA											False	0	False	14:55467351	0
DAAM1	23002	broad.mit.edu	37	14	59834297	59834298	+	Frame_Shift_Ins	INS	-	-	AATGTTTCAT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:59834297_59834298insAATGTTTCAT	ENST00000395125.1	+	24	3030_3031	c.3007_3008insAATGTTTCAT	c.(3007-3009)cgafs	p.R1003fs	DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.R993fs|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.R1003fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1003	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGAAGAACGTCGAGCTCGCATG	0.411		NA											False	0	False	14:59834297	0
CATSPERB	79820	broad.mit.edu	37	14	92139362	92139362	+	Splice_Site	DEL	T	T	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:92139362delT	ENST00000256343.3	-	13	1135		c.e13-2			NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	NA					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAGCTTGACTATAAAAAAAA	0.303		NA											False	1	False	14:92139362	0
SNHG14	0	broad.mit.edu	37	15	25230366	25230367	+	RNA	INS	-	-	CTGCAGATAG			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:25230366_25230367insCTGCAGATAG	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1					NA											NA						AACATAAATTCTTAGACTCTAA	0.371		NA											False	0	False	15:25230366	0
CCDC33	80125	broad.mit.edu	37	15	74536401	74536403	+	In_Frame_Del	DEL	AAG	AAG	-	rs74360605		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:74536401_74536403delAAG	ENST00000398814.3	+	2	528_530	c.97_99delAAG	c.(97-99)aagdel	p.K34del	CCDC33_ENST00000321288.5_In_Frame_Del_p.K237del	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	237							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCCTCTAAGAAGGAGACCA	0.606		NA											False	2	False	15:74536401	0
SLC38A10	124565	broad.mit.edu	37	17	79219501	79219503	+	In_Frame_Del	DEL	ATG	ATG	-	rs10569617		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	ATG	ATG	-	-	ATG	ATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:79219501_79219503delATG	ENST00000374759.3	-	16	3596_3598	c.3213_3215delCAT	c.(3211-3216)atcatt>att	p.1071_1072II>I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1071				Missing (in Ref. 5; AAG17235).	amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTAAGGCCAATGATGACCCCAT	0.685		NA											False	2	False	17:79219501	0
ROCK1	6093	broad.mit.edu	37	18	18608802	18608802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:18608802delA	ENST00000399799.1	-	10	2086	c.1146delT	c.(1144-1146)cctfs	p.P382fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	382	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTTAGGAATAGGGAATGTTT	0.358		NA											False	1	True	18:18608802	0
STARD6	147323	broad.mit.edu	37	18	51863601	51863602	+	Translation_Start_Site	INS	-	-	CATTAATATATTTTTAGT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:51863601_51863602insCATTAATATATTTTTAGT	ENST00000580990.2	-	0	102_103				STARD6_ENST00000307844.3_In_Frame_Ins_p.54_54I>N*KYINV|STARD6_ENST00000581310.1_In_Frame_Ins_p.54_54I>N*KYINV			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	NA					lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGATTCTGGAATTATCCCTTCA	0.312		NA											False	0	False	18:51863601	0
SYT14	255928	broad.mit.edu	37	1	210187063	210187064	+	Frame_Shift_Ins	INS	-	-	GAAACCCCAAACATTAAGTTAGC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGC	ENST00000367015.1	+	3	339_340	c.33_34insGAAACCCCAAACATTAAGTTAGC	c.(34-36)ttcfs	p.F12fs	SYT14_ENST00000472886.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	50						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTAATAAGAAGTTCTGTTTTGA	0.351		NA											False	0	False	1:210187063	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147601	33147604	+	Frame_Shift_Del	DEL	GTGA	GTGA	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	GTGA	GTGA	-	-	GTGA	GTGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:33147601_33147604delGTGA	ENST00000360668.3	+	4	1026_1029	c.265_268delGTGA	c.(265-270)gtgagtfs	p.VS91fs	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Frame_Shift_Del_p.VS91fs|MAP1LC3A_ENST00000374837.3_Frame_Shift_Del_p.VS95fs			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	91					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GCACAGCATGGTGAGTGTGTCCAC	0.618		NA											False	1	False	20:33147601	0
NCAM2	4685	broad.mit.edu	37	21	22656716	22656717	+	Frame_Shift_Ins	INS	-	-	ATCTTCTCTCC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:22656716_22656717insATCTTCTCTCC	ENST00000400546.1	+	3	582_583	c.333_334insATCTTCTCTCC	c.(334-336)tacfs	p.Y112fs	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.Y137fs|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	112					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTTTGGAAATTTACCGTAAGTA	0.292		NA											False	0	True	21:22656716	0
ZNF678	339500	broad.mit.edu	37	1	227842194	227842195	+	In_Frame_Ins	INS	-	-	ATAAAAATAAAAAGT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:227842194_227842195insATAAAAATAAAAAGT	ENST00000343776.4	+	4	588_589	c.243_244insATAAAAATAAAAAGT	c.(244-246)tat>ATAAAAATAAAAAGTtat	p.81_82insIKIKS	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKS			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	136					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGCAGAAAGAATATTGCAATAG	0.386		NA											False	0	True	1:227842194	0
DEPDC5	9681	broad.mit.edu	37	22	32162651	32162652	+	In_Frame_Ins	INS	-	-	ACTGGAAGACCA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:32162651_32162652insACTGGAAGACCA	ENST00000382112.3	+	5	430_431	c.360_361insACTGGAAGACCA	c.(361-363)ttg>ACTGGAAGACCAttg	p.120_121insTGRP	DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000535622.1_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000400249.2_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000400242.3_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000266091.3_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000400246.1_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000382111.2_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000382105.2_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000400248.1_In_Frame_Ins_p.120_121insTGRP	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	120					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAAAGAAAAGTTTGGTAAGATG	0.327		NA											False	0	True	22:32162651	0
GPR50	9248	broad.mit.edu	37	X	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-	rs113250614		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	CACCACTGGCCA	CACCACTGGCCA	-	-	CACCACTGGCCA	CACCACTGGCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels).		cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608		NA											False	1	False	X:150349558	0
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:12785492_12785493insT	ENST00000332530.3	+	3	598_599	c.372_373insT	c.(373-375)tgtfs	p.C125fs	AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.C195fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195							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)		TCATCTGCTACTGTTTTTTTCA	0.455		NA											False	1	False	1:12785492	0
OR2B11	127623	broad.mit.edu	37	1	247615262	247615262	+	Frame_Shift_Del	DEL	A	A	-	rs35305980		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:247615262delA	ENST00000318749.6	-	1	46	c.23delT	c.(22-24)ttcfs	p.F8fs		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCCTAAGAAGCTATGGTT	0.473		NA											False	2	False	1:247615262	0
ABCG5	64240	broad.mit.edu	37	2	44047223	44047224	+	In_Frame_Ins	INS	-	-	TAAGAT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:44047223_44047224insTAAGAT	ENST00000405322.1	-	8	1862_1863	c.966_967insATCTTA	c.(964-969)catcct>catATCTTAcct	p.322_323HP>HILP	ABCG5_ENST00000260645.1_In_Frame_Ins_p.493_494HP>HILP|ABCG5_ENST00000543989.1_In_Frame_Ins_p.98_99HP>HILP			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	493					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAACCTCAGGATGTAAGCCCA	0.426		NA											False	0	False	2:44047223	0
RNF103	7844	broad.mit.edu	37	2	86832537	86832538	+	In_Frame_Ins	INS	-	-	CTAAGT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:86832537_86832538insCTAAGT	ENST00000237455.4	-	4	1454_1455	c.486_487insACTTAG	c.(484-489)tattgc>tatACTTAGtgc	p.162_163YC>YT*C	AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'UTR	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	162					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CTTCTCCTGCAATATCTACAAG	0.406		NA											False	0	False	2:86832537	0
CCDC138	165055	broad.mit.edu	37	2	109408239	109408240	+	In_Frame_Ins	INS	-	-	AGAAGTTTACTATAGCAC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:109408239_109408240insAGAAGTTTACTATAGCAC	ENST00000295124.4	+	4	435_436	c.375_376insAGAAGTTTACTATAGCAC	c.(376-378)ttt>AGAAGTTTACTATAGCACttt	p.125_126insRSLL*H	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_In_Frame_Ins_p.125_126insRSLL*H	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	125										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CCAAGCAGTCTTTTAAAGAAAT	0.292		NA											False	0	True	2:109408239	0
PARD3B	117583	broad.mit.edu	37	2	206166339	206166340	+	Frame_Shift_Ins	INS	-	-	AGAATGAATAACAGCAC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:206166339_206166340insAGAATGAATAACAGCAC	ENST00000406610.2	+	18	2751_2752	c.2544_2545insAGAATGAATAACAGCAC	c.(2545-2547)ttgfs	p.L849fs	PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.L780fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.L849fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.L787fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.L849fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	849	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		aaaagggcaaattgaaagtcaa	0.446		NA											False	0	True	2:206166339	0
XRCC5	7520	broad.mit.edu	37	2	216992376	216992377	+	In_Frame_Ins	INS	-	-	ATTTCA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:216992376_216992377insATTTCA	ENST00000392133.3	+	10	1377_1378	c.916_917insATTTCA	c.(916-918)tta>tATTTCAta	p.306_306L>YFI	XRCC5_ENST00000392132.2_In_Frame_Ins_p.306_306L>YFI			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	306	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AACTGAAGTTTTAAAAGAGGAT	0.317		NA						Non-homologous end-joining					False	0	True	2:216992376	0
CCDC66	285331	broad.mit.edu	37	3	56627080	56627081	+	In_Frame_Ins	INS	-	-	CTTGCCAAAGTAACATAC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:56627080_56627081insCTTGCCAAAGTAACATAC	ENST00000394672.3	+	8	1089_1090	c.1019_1020insCTTGCCAAAGTAACATAC	c.(1018-1023)atagaa>atCTTGCCAAAGTAACATACagaa	p.340_341IE>ILPK*HTE	CCDC66_ENST00000326595.7_In_Frame_Ins_p.306_307IE>ILPK*HTE|CCDC66_ENST00000436465.2_In_Frame_Ins_p.340_341IE>ILPK*HTE	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	340										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AATAAGCAAATAGAAGATGACC	0.322		NA											False	0	False	3:56627080	0
CCDC66	285331	broad.mit.edu	37	3	56651313	56651314	+	Frame_Shift_Ins	INS	-	-	TTGCAAATGATTTTTA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:56651313_56651314insTTGCAAATGATTTTTA	ENST00000394672.3	+	14	2087_2088	c.2017_2018insTTGCAAATGATTTTTA	c.(2017-2019)gaafs	p.E673fs	CCDC66_ENST00000326595.7_Frame_Shift_Ins_p.E639fs|CCDC66_ENST00000436465.2_Frame_Shift_Ins_p.E673fs	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	673										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTTAGAAAAAGAAAACAATCGG	0.356		NA											False	0	True	3:56651313	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
U2SURP	23350	broad.mit.edu	37	3	142735204	142735205	+	Frame_Shift_Ins	INS	-	-	TACA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:142735204_142735205insTACA	ENST00000473835.2	+	5	517_518	c.427_428insTACA	c.(427-429)gcafs	p.A143fs	U2SURP_ENST00000493598.2_Frame_Shift_Ins_p.A143fs|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	143					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGTTGTTAATGCAGCTAAAGGT	0.381		NA											False	0	False	3:142735204	0
LRPAP1	4043	broad.mit.edu	37	4	3516576	3516582	+	Frame_Shift_Del	DEL	AGCTTCT	AGCTTCT	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	AGCTTCT	AGCTTCT	-	-	AGCTTCT	AGCTTCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:3516576_3516582delAGCTTCT	ENST00000500728.2	-	7	1054_1060	c.908_914delAGAAGCT	c.(907-915)gagaagctgfs	p.EKL303fs	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	303	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCGTGCCTCAGCTTCTCGTGCGCAAT	0.614		NA											False	1	False	4:3516576	0
NIPBL	25836	broad.mit.edu	37	5	36986323	36986324	+	In_Frame_Ins	INS	-	-	TTTCCATTTTCTTTGTCTCCT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:36986323_36986324insTTTCCATTTTCTTTGTCTCCT	ENST00000282516.8	+	10	3540_3541	c.3041_3042insTTTCCATTTTCTTTGTCTCCT	c.(3040-3045)cagaaa>caTTTCCATTTTCTTTGTCTCCTgaaa	p.1014_1014Q>HFHFLCLL	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_In_Frame_Ins_p.1014_1014Q>HFHFLCLL	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1014					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATGATGTTCAGAAACTTATTA	0.332		NA											False	0	True	5:36986323	0
C5orf51	285636	broad.mit.edu	37	5	41917305	41917306	+	Frame_Shift_Ins	INS	-	-	AAACCGTAGTTAT	rs149416451		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:41917305_41917306insAAACCGTAGTTAT	ENST00000381647.2	+	6	808_809	c.789_790insAAACCGTAGTTAT	c.(790-792)tatfs	p.Y264fs		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	264										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTGAAAAAGTATGTATCTGT	0.386		NA											False	0	True	5:41917305	0
MRPS30	10884	broad.mit.edu	37	5	44815246	44815255	+	Frame_Shift_Del	DEL	TAGTTCACTT	TAGTTCACTT	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	TAGTTCACTT	TAGTTCACTT	-	-	TAGTTCACTT	TAGTTCACTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:44815246_44815255delTAGTTCACTT	ENST00000507110.1	+	5	1300_1309	c.1262_1271delTAGTTCACTT	c.(1261-1272)atagttcactttfs	p.IVHF421fs		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	421					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CTACTTCAGATAGTTCACTTTCTACTGAAT	0.319		NA											False	1	False	5:44815246	0
ITGA1	3672	broad.mit.edu	37	5	52204846	52204847	+	Frame_Shift_Ins	INS	-	-	CTGAAATCTACATTTGTTTT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:52204846_52204847insCTGAAATCTACATTTGTTTT	ENST00000282588.6	+	13	2032_2033	c.1574_1575insCTGAAATCTACATTTGTTTT	c.(1573-1578)aaagtgfs	p.KV525fs		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	525					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGCAAGGAAAAGTGTATGTGT	0.366		NA											False	0	True	5:52204846	0
ZFYVE16	9765	broad.mit.edu	37	5	79734166	79734167	+	Frame_Shift_Ins	INS	-	-	TTAATAAAACCTTC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:79734166_79734167insTTAATAAAACCTTC	ENST00000338008.5	+	3	1842_1843	c.1662_1663insTTAATAAAACCTTC	c.(1663-1665)aatfs	p.N555fs	ZFYVE16_ENST00000505560.1_Frame_Shift_Ins_p.N555fs|ZFYVE16_ENST00000510158.1_Frame_Shift_Ins_p.N555fs	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	555					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAGAAAATGTAAATGACTCTAA	0.361		NA											False	0	True	5:79734166	0
MSH3	4437	broad.mit.edu	37	5	80169098	80169099	+	In_Frame_Ins	INS	-	-	TAG			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:80169098_80169099insTAG	ENST00000265081.6	+	23	3374_3375	c.3294_3295insTAG	c.(3295-3297)acg>TAGacg	p.1098_1099ins*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1098					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GATTAATAAATACGAAAAGGTC	0.371		NA						Mismatch excision repair (MMR)					False	0	True	5:80169098	0
CDSN	1041	broad.mit.edu	37	6	31084943	31084945	+	In_Frame_Del	DEL	CTT	CTT	-	rs34182778		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:31084943_31084945delCTT	ENST00000376288.2	-	2	473_475	c.447_449delAAG	c.(445-450)ggaagc>ggc	p.S153del	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	153	Ser-rich.		Missing.		cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGAGCTGCTGCTTCCCGAGTGAG	0.571		NA											False	1	True	6:31084943	0
MEP1A	4224	broad.mit.edu	37	6	46793163	46793164	+	Frame_Shift_Ins	INS	-	-	AAAAAAGGGAA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:46793163_46793164insAAAAAAGGGAA	ENST00000230588.4	+	8	720_721	c.711_712insAAAAAAGGGAA	c.(712-714)attfs	p.I238fs		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	238	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGTTTAACTCCATTATCGGACA	0.431		NA											False	0	False	6:46793163	0
MEP1A	4224	broad.mit.edu	37	6	46793165	46793166	+	Frame_Shift_Ins	INS	-	-	AGTTC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:46793165_46793166insAGTTC	ENST00000230588.4	+	8	722_723	c.713_714insAGTTC	c.(712-717)attatcfs	p.I239fs		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	239	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTTAACTCCATTATCGGACAGC	0.431		NA											False	0	False	6:46793165	0
CD2AP	23607	broad.mit.edu	37	6	47471156	47471157	+	Frame_Shift_Ins	INS	-	-	CTAAAATCTAATTCACAAAATACTGTAAACTATA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:47471156_47471157insCTAAAATCTAATTCACAAAATACTGTAAACTATA	ENST00000359314.5	+	2	601_602	c.145_146insCTAAAATCTAATTCACAAAATACTGTAAACTATA	c.(145-147)ttcfs	p.F49fs		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	49	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAGGAATGTTCCCTGACAAT	0.337		NA											False	0	True	6:47471156	0
TAL1	6886	broad.mit.edu	37	1	47685593	47685597	+	Frame_Shift_Del	DEL	ACCAG	ACCAG	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	ACCAG	ACCAG	-	-	ACCAG	ACCAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:47685593_47685597delACCAG	ENST00000294339.3	-	4	1367_1371	c.791_795delCTGGT	c.(790-795)gctggtfs	p.AG264fs	TAL1_ENST00000371884.2_Frame_Shift_Del_p.AG264fs|TAL1_ENST00000371883.3_Frame_Shift_Del_p.AG266fs|TAL1_ENST00000459729.1_5'UTR	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	264	Poly-Gly.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ctccacccccaccAGCCCCCACCAC	0.659		NA	T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								False	1	False	1:47685593	0
OMA1	115209	broad.mit.edu	37	1	58999992	58999993	+	In_Frame_Ins	INS	-	-	TTATTG			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:58999992_58999993insTTATTG	ENST00000371226.3	-	4	853_854	c.740_741insCAATAA	c.(739-741)gaa>gaCAATAAa	p.247_247E>DNK	OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_In_Frame_Ins_p.247_247E>DNK|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CATTTTTAAATTCTTCCATCCA	0.327		NA											False	0	False	1:58999992	0
OMA1	115209	broad.mit.edu	37	1	58999994	58999995	+	Frame_Shift_Ins	INS	-	-	CTTATTTTTTATGATGTTCTAA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:58999994_58999995insCTTATTTTTTATGATGTTCTAA	ENST00000371226.3	-	4	851_852	c.738_739insTTAGAACATCATAAAAAATAAG	c.(736-741)gaagaafs	p.E247fs	OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Frame_Shift_Ins_p.E247fs|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.E247*(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTTTTAAATTCTTCCATCCACT	0.322		NA											False	0	True	1:58999994	0
MDN1	23195	broad.mit.edu	37	6	90428180	90428181	+	Frame_Shift_Ins	INS	-	-	AAATGTTTTGTATTAATTTAGTAATTATTAA			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:90428180_90428181insAAATGTTTTGTATTAATTTAGTAATTATTAA	ENST00000369393.3	-	43	6602_6603	c.6487_6488insTTAATAATTACTAAATTAATACAAAACATTT	c.(6487-6489)ggtfs	p.G2163fs	MDN1_ENST00000428876.1_Frame_Shift_Ins_p.G2163fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2163					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.G2163D(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATAGCTTTACCACCTTCTCCA	0.431		NA											False	0	False	6:90428180	0
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Frame_Shift_Del	DEL	C	C	-	rs72613250		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:109850201delC	ENST00000355283.1	-	5	1129	c.883delG	c.(883-885)gttfs	p.V295fs	AK9_ENST00000341338.6_Intron|AK9_ENST00000424296.2_Intron					adenylate kinase 9	NA											NA						aaaaaaaaaacaaaaCTACTT	0.413		NA											False	1	True	6:109850201	0
RPF2	84154	broad.mit.edu	37	6	111346759	111346760	+	Frame_Shift_Ins	INS	-	-	GAATATGTATATATTTAATGGCCTTCTACTAT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:111346759_111346760insGAATATGTATATATTTAATGGCCTTCTACTAT	ENST00000441448.2	+	10	987_988	c.895_896insGAATATGTATATATTTAATGGCCTTCTACTAT	c.(895-897)aagfs	p.K299fs		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	299						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CCACGAGAAAAAGTCAAAAAGA	0.376		NA											False	0	True	6:111346759	0
DLL1	28514	broad.mit.edu	37	6	170597878	170597879	+	Splice_Site	INS	-	-	CAGAAAGT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:170597878_170597879insCAGAAAGT	ENST00000366756.3	-	3	685		c.e3-1			NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	NA					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGAAGGTGCCCTGGGAGAGAGG	0.485		NA											False	0	True	6:170597878	0
SLC25A13	10165	broad.mit.edu	37	7	95820547	95820548	+	Frame_Shift_Ins	INS	-	-	GTATTATTATTAGGGTGAAGAAGGC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:95820547_95820548insGTATTATTATTAGGGTGAAGAAGGC	ENST00000265631.5	-	7	763_764	c.627_628insGCCTTCTTCACCCTAATAATAATAC	c.(625-630)ggtaccfs	p.T210fs	SLC25A13_ENST00000542654.1_Frame_Shift_Ins_p.T102fs|SLC25A13_ENST00000416240.2_Frame_Shift_Ins_p.T210fs			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	210					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGGGATGTGGTACCTCCAGCAG	0.337		NA											False	0	False	7:95820547	0
RNF32	140545	broad.mit.edu	37	7	156437351	156437352	+	Frame_Shift_Ins	INS	-	-	TATTTAGAGGAGT			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:156437351_156437352insTATTTAGAGGAGT	ENST00000392741.2	+	2	262_263	c.174_175insTATTTAGAGGAGT	c.(175-177)atafs	p.I59fs	RNF32_ENST00000405335.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs			Q9H0A6	RNF32_HUMAN	ring finger protein 32	59						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATACAAAGGCAATAATAGATAC	0.361		NA											False	0	False	7:156437351	0
SDCBP	6386	broad.mit.edu	37	8	59488622	59488623	+	Splice_Site	INS	-	-	GTC			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:59488622_59488623insGTC	ENST00000523483.1	+	6	1976		c.e6+2		SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000447182.2_Splice_Site|SDCBP_ENST00000422546.2_Splice_Site|SDCBP_ENST00000424270.2_Splice_Site|SDCBP_ENST00000260130.4_Splice_Site|SDCBP_ENST00000413219.2_Splice_Site|SDCBP_ENST00000520168.1_Intron			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	NA					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATAGATAATGTAAGTATTTTAA	0.277		NA											False	0	False	8:59488622	0
NCOA2	10499	broad.mit.edu	37	8	71071800	71071803	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	AGTT	AGTT	-	-	AGTT	AGTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:71071800_71071803delAGTT	ENST00000452400.2	-	10	1242_1245	c.1061_1064delAACT	c.(1060-1065)aaactcfs	p.KL354fs		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	354					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGAACGGATGAGTTTGCTCTTCGT	0.402		NA	T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								False	1	True	8:71071800	0
CDKN2A	1029	broad.mit.edu	37	9	21971143	21971144	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:21971143_21971144insA	ENST00000479692.2	-	2	75_76	c.61_62insT	c.(61-63)tgcfs	p.C21fs	CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.L127fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000579755.1_Frame_Shift_Ins_p.L86fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.L86fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.C21fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	72					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E61_L94del(1)|p.0(1)|p.C72S(1)|p.C72Y(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.C72G(1)|p.A68fs*3(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGGTCGGCGCAGTTGGGCTCC	0.713		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21971143	0
UBAC1	10422	broad.mit.edu	37	9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-	rs66767056		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084).		Golgi apparatus|plasma membrane	protein binding	p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621		NA											False	2	False	9:138836942	0
VCX	26609	broad.mit.edu	37	X	7812055	7812055	+	Nonstop_Mutation	SNP	T	T	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:7812055T>A	ENST00000381059.3	+	3	838	c.619T>A	c.(619-621)Tag>Aag	p.*207K	VCX_ENST00000341408.4_Nonstop_Mutation_p.*187K	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	0					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				ACCGAGTGTGTAGACGGCCAA	0.572		NA											False	0	True	X:7812055	0
TENM4	26011	broad.mit.edu	37	11	78381519	78381519	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:78381519C>T	ENST00000278550.7	-	32	6333	c.5871G>A	c.(5869-5871)acG>acA	p.T1957T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						CGTTGGGCATCGTCACAGAAG	0.537		NA											False	0	False	11:78381519	0
AHR	196	broad.mit.edu	37	7	17378954	17378954	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:17378954C>A	ENST00000242057.4	+	10	2148	c.1505C>A	c.(1504-1506)cCg>cAg	p.P502Q	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	502					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P502L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AATACTGCACCGATGGGAAAT	0.403		NA											False	0	False	7:17378954	0
ODF1	4956	broad.mit.edu	37	8	103564103	103564103	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:103564103C>A	ENST00000285402.3	+	1	304	c.148C>A	c.(148-150)Cac>Aac	p.H50N		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	50	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTGACTTGCACCCATATCC	0.493		NA											False	0	False	8:103564103	0
ENY2	56943	broad.mit.edu	37	8	110348356	110348356	+	Splice_Site	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:110348356G>A	ENST00000521688.1	+	2	151		c.e2-1		ENY2_ENST00000522407.1_Intron|ENY2_ENST00000520147.1_Splice_Site|ENY2_ENST00000521662.1_Splice_Site	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	NA					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTGATGTCCAGGTTAGCAAGA	0.363		NA											False	0	False	8:110348356	0
DSCAML1	57453	broad.mit.edu	37	11	117299205	117299205	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:117299205C>T	ENST00000321322.6	-	33	6182	c.6181G>A	c.(6181-6183)Gct>Act	p.A2061T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1791T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2001					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGAGGGGCAGCGCTGGGGGCG	0.731		NA											False	0	False	11:117299205	0
FABP12	646486	broad.mit.edu	37	8	82439272	82439272	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:82439272C>T	ENST00000360464.4	-	3	393	c.331G>A	c.(331-333)Gat>Aat	p.D111N	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	111							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						ATTTTCCCATCCACCAGCTTT	0.413		NA											False	0	False	8:82439272	0
AZU1	566	broad.mit.edu	37	19	829611	829611	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:829611C>T	ENST00000233997.2	+	3	286	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	89	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGAGGCGGCGGGAGAGGCA	0.632		NA											False	0	True	19:829611	0
MYH4	4622	broad.mit.edu	37	17	10358056	10358056	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:10358056A>G	ENST00000255381.2	-	22	2617	c.2507T>C	c.(2506-2508)cTg>cCg	p.L836P	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	836					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGAAATACAGCTTCATCCA	0.438		NA											False	0	False	17:10358056	0
SPTBN2	6712	broad.mit.edu	37	11	66468054	66468054	+	Silent	SNP	G	G	A	rs149829140	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:66468054G>A	ENST00000533211.1	-	17	3847	c.3516C>T	c.(3514-3516)caC>caT	p.H1172H	SPTBN2_ENST00000529997.1_Silent_p.H1172H|SPTBN2_ENST00000309996.2_Silent_p.H1172H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1172					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTGGAAGCCGTGGGCCTGGG	0.647		NA											False	0	False	11:66468054	0
CXCR1	3577	broad.mit.edu	37	2	219029412	219029412	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:219029412G>A	ENST00000295683.2	-	2	643	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	175					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R175C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TAAGCCTGGCGGAAAAGGAAG	0.522		NA											False	0	False	2:219029412	0
PTPRS	5802	broad.mit.edu	37	19	5219432	5219432	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5219432G>A	ENST00000372412.4	-	23	4048	c.3815C>T	c.(3814-3816)cCg>cTg	p.P1272L	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.P840L|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1249L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P840L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1271L|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1249L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1267L|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1271L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1271					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGGGGGTCCGGGTTATCCAG	0.592		NA											False	0	True	19:5219432	0
KRT84	3890	broad.mit.edu	37	12	52779007	52779007	+	Silent	SNP	G	G	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:52779007G>C	ENST00000257951.3	-	1	429	c.363C>G	c.(361-363)ggC>ggG	p.G121G	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	121	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAACCAAAGCCAGGGCCAC	0.577		NA											False	0	True	12:52779007	0
PRIMA1	145270	broad.mit.edu	37	14	94245551	94245551	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:94245551G>A	ENST00000393140.1	-	3	302	c.200C>T	c.(199-201)cCg>cTg	p.P67L	PRIMA1_ENST00000393143.1_Missense_Mutation_p.P67L|PRIMA1_ENST00000316227.3_Missense_Mutation_p.P67L	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	67	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		gggaggtggcgggggtggggg	0.632		NA											False	0	True	14:94245551	0
RP1	6101	broad.mit.edu	37	8	55541791	55541791	+	Silent	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:55541791A>G	ENST00000220676.1	+	4	5497	c.5349A>G	c.(5347-5349)gtA>gtG	p.V1783V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1783					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAGTGAGGTACCATATTCAC	0.443		NA											False	0	False	8:55541791	0
KCNJ12	3768	broad.mit.edu	37	17	21318768	21318768	+	Silent	SNP	G	G	A	rs139060766		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:21318768G>A	ENST00000583088.1	+	3	1009	c.114G>A	c.(112-114)acG>acA	p.T38T	KCNJ12_ENST00000331718.5_Silent_p.T38T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	NA										NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGGTGCACACGCGGCGCAGGT	0.622		NA								Prostate(3;0.18)			False	0	False	17:21318768	0
TENM3	55714	broad.mit.edu	37	4	183696229	183696229	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:183696229G>A	ENST00000511685.1	+	24	5350	c.5227G>A	c.(5227-5229)Ggt>Agt	p.G1743S	TENM3_ENST00000406950.2_Missense_Mutation_p.G1743S					teneurin transmembrane protein 3	NA											NA						TGGCGAGAACGGTCAAAACTT	0.537		NA											False	0	False	4:183696229	0
OR10G9	219870	broad.mit.edu	37	11	123894473	123894473	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:123894473G>A	ENST00000375024.1	+	1	754	c.754G>A	c.(754-756)Gtt>Att	p.V252I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGCTTTTTTGTTCCCTGTGT	0.542		NA											False	0	True	11:123894473	0
MCM2	4171	broad.mit.edu	37	3	127325137	127325137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:127325137C>T	ENST00000265056.7	+	5	1094	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	284					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CATCCATGTCCGCATCTCCCA	0.632		NA											False	0	False	3:127325137	0
DLGAP2	9228	broad.mit.edu	37	8	1497636	1497636	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:1497636C>T	ENST00000421627.2	+	2	911	c.777C>T	c.(775-777)tcC>tcT	p.S259S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	338					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)		GGGACCTGTCCCTCAAGACCT	0.662		NA											False	0	True	8:1497636	0
TTI1	9675	broad.mit.edu	37	20	36641253	36641253	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:36641253A>C	ENST00000373448.2	-	3	1204	c.966T>G	c.(964-966)agT>agG	p.S322R	TTI1_ENST00000373447.3_Missense_Mutation_p.S322R|TTI1_ENST00000449821.1_Missense_Mutation_p.S322R|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	322							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCAATGATTGACTGCACTTCA	0.438		NA											False	0	False	20:36641253	0
CALN1	83698	broad.mit.edu	37	7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:71252834C>T	ENST00000395275.2	-	7	1100	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T|CALN1_ENST00000329008.5_Missense_Mutation_p.A196T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	196						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567		NA											False	0	False	7:71252834	0
KIF17	57576	broad.mit.edu	37	1	21031222	21031222	+	Missense_Mutation	SNP	G	G	A	rs150395335		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:21031222G>A	ENST00000247986.2	-	5	1151	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	KIF17_ENST00000375044.1_Missense_Mutation_p.R181C|KIF17_ENST00000400463.3_Missense_Mutation_p.R281C			Q9P2E2	KIF17_HUMAN	kinesin family member 17	281					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCTTACAGCGCCCGTCCACC	0.662		NA											False	0	True	1:21031222	0
DYRK1A	1859	broad.mit.edu	37	21	38868512	38868512	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:38868512G>T	ENST00000339659.4	+	8	2634	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	DYRK1A_ENST00000338785.3_Missense_Mutation_p.K397N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.K397N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.K397N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.K397N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.K169N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.K397N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	NA	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCTTTGAGAAGTTGCCAGATG	0.353		NA											False	0	False	21:38868512	0
PTCH2	8643	broad.mit.edu	37	1	45294923	45294923	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:45294923C>T	ENST00000447098.2	-	10	1288	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PTCH2_ENST00000372192.3_Missense_Mutation_p.G426D	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	426	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCGGCAAGGCCCACGGAACC	0.677		NA							Basal Cell Nevus syndrome				False	0	True	1:45294923	0
EXD2	0	broad.mit.edu	37	14	69704529	69704529	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:69704529C>T	ENST00000409014.1	+	10	1812	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	EXD2_ENST00000409242.1_Silent_p.L385L|EXD2_ENST00000312994.5_Silent_p.L510L|EXD2_ENST00000409018.3_Silent_p.L510L|EXD2_ENST00000409675.1_Silent_p.L385L|EXD2_ENST00000409949.1_Silent_p.L385L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L385L	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	385					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGGCCCTGCTCAACGCGGAGA	0.612		NA											False	0	False	14:69704529	0
DENND5A	23258	broad.mit.edu	37	11	9166560	9166560	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:9166560A>G	ENST00000328194.3	-	18	3424	c.3104T>C	c.(3103-3105)aTc>aCc	p.I1035T	DENND5A_ENST00000527700.1_Missense_Mutation_p.I378T|DENND5A_ENST00000530044.1_Missense_Mutation_p.I1035T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1035	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTCCTGTGATCTCATTCCT	0.493		NA											False	0	False	11:9166560	0
PSD	5662	broad.mit.edu	37	10	104163099	104163099	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:104163099G>A	ENST00000020673.5	-	17	3459	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	PSD_ENST00000406432.1_Missense_Mutation_p.A978V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	978					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCGGCCTGGGCCAGTGCTGC	0.642		NA											False	0	True	10:104163099	0
ZIC1	7545	broad.mit.edu	37	3	147128364	147128364	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:147128364G>A	ENST00000282928.4	+	1	1194	c.465G>A	c.(463-465)tcG>tcA	p.S155S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	155					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACGCGTCGCCTAACGTGG	0.716		NA											False	0	False	3:147128364	0
SREBF2	6721	broad.mit.edu	37	22	42300961	42300961	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42300961C>T	ENST00000361204.4	+	18	3354	c.3188C>T	c.(3187-3189)aCg>aTg	p.T1063M	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	1063					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CGGCGCACCACGCAGAGCACC	0.697		NA											False	0	False	22:42300961	0
TNFRSF9	3604	broad.mit.edu	37	1	8000140	8000140	+	Splice_Site	SNP	T	T	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:8000140T>G	ENST00000377507.3	-	2	83		c.e2-2			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	NA					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		AATGTCACTCTGCAAAAGATA	0.348		NA											False	0	False	1:8000140	0
HSP90AA1	3320	broad.mit.edu	37	14	102552342	102552342	+	Silent	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:102552342A>T	ENST00000334701.7	-	4	929	c.648T>A	c.(646-648)acT>acA	p.T216T	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Silent_p.T94T	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	94					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTCCAATTCCAGTATCCACAA	0.433		NA											False	0	False	14:102552342	0
APOB	338	broad.mit.edu	37	2	21238344	21238344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:21238344C>A	ENST00000233242.1	-	22	3533	c.3406G>T	c.(3406-3408)Gag>Tag	p.E1136*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1136					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCGAGGATCTCACTTCTGGCT	0.473		NA											False	0	False	2:21238344	0
OR5I1	10798	broad.mit.edu	37	11	55703122	55703122	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:55703122A>T	ENST00000301532.3	-	1	754	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCTTGGTAGATCGTCACTGA	0.428		NA											False	0	False	11:55703122	0
TSSC2	0	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002										NA											NA						AGCTTCACAGATCCACCGCTG	0.587		NA											False	0	False	11:3427885	0
LHFPL2	10184	broad.mit.edu	37	5	77805805	77805805	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:77805805G>A	ENST00000380345.2	-	4	907	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	LHFPL2_ENST00000515007.2_Missense_Mutation_p.R78W	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	78						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AGCGTGTCCCGCTGGAAGTGC	0.687		NA											False	0	True	5:77805805	0
NPY5R	4889	broad.mit.edu	37	4	164272416	164272416	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:164272416C>A	ENST00000515560.1	+	4	2513	c.991C>A	c.(991-993)Cca>Aca	p.P331T	NPY5R_ENST00000338566.3_Missense_Mutation_p.P331T|NPY5R_ENST00000506953.1_Missense_Mutation_p.P331T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	331					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAAGTTCATACCAGGGGTCCC	0.403		NA											False	0	False	4:164272416	0
LGR6	59352	broad.mit.edu	37	1	202273709	202273709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:202273709C>T	ENST00000367278.3	+	11	1110	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.R202W|LGR6_ENST00000255432.7_Missense_Mutation_p.R289W	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	341						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CGCAGGCATCCGGCTGCTCCC	0.642		NA											False	0	False	1:202273709	0
RANBP3	8498	broad.mit.edu	37	19	5978075	5978075	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5978075C>G	ENST00000340578.6	-	1	76	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	RANBP3_ENST00000034275.8_Missense_Mutation_p.E7Q|RANBP3_ENST00000591092.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000541471.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.E7Q	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	7					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCCCTACCTTCGTTCGCCAGG	0.701		NA											False	0	True	19:5978075	0
SEC31B	25956	broad.mit.edu	37	10	102249858	102249858	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:102249858G>A	ENST00000370345.3	-	21	2969	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	958	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGCTTGCAGGAGGGGCTGGG	0.617		NA											False	0	False	10:102249858	0
RNF182	221687	broad.mit.edu	37	6	13977539	13977539	+	Silent	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:13977539C>G	ENST00000488300.1	+	3	712	c.189C>G	c.(187-189)gtC>gtG	p.V63V	RNF182_ENST00000537388.1_Silent_p.V63V|RNF182_ENST00000537663.1_Silent_p.V63V|RNF182_ENST00000544682.1_Silent_p.V63V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	63						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTGTCATTGTCTGTCCTTTCT	0.478		NA											False	0	True	6:13977539	0
STAU2	27067	broad.mit.edu	37	8	74516052	74516052	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:74516052G>A	ENST00000355780.5	-	9	1060	c.842C>T	c.(841-843)gCg>gTg	p.A281V	STAU2_ENST00000517542.1_Missense_Mutation_p.A275V|STAU2_ENST00000523558.1_Missense_Mutation_p.A141V|STAU2_ENST00000522695.1_Missense_Mutation_p.A281V|STAU2_ENST00000521210.1_Missense_Mutation_p.A209V|STAU2_ENST00000521727.1_Missense_Mutation_p.A293V|STAU2_ENST00000521451.1_Missense_Mutation_p.A93V|STAU2_ENST00000519961.1_Missense_Mutation_p.A313V|STAU2_ENST00000522509.1_Missense_Mutation_p.A281V|STAU2_ENST00000524300.1_Missense_Mutation_p.A313V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	313					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTGAATTTGCGCCAGGCGGCT	0.403		NA											False	0	False	8:74516052	0
ERBB4	2066	broad.mit.edu	37	2	212578361	212578361	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:212578361A>T	ENST00000342788.4	-	8	1206	c.896T>A	c.(895-897)gTa>gAa	p.V299E	ERBB4_ENST00000402597.1_Missense_Mutation_p.V299E|ERBB4_ENST00000436443.1_Missense_Mutation_p.V299E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	299	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTGGAATCTACCACAAAGTT	0.328		NA								TSP Lung(8;0.080)			False	0	False	2:212578361	0
GJC3	349149	broad.mit.edu	37	7	99527179	99527179	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:99527179C>T	ENST00000312891.2	-	1	64	c.65G>A	c.(64-66)cGc>cAc	p.R22H	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	22						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAGCAAGAGGCGCCCCACGGG	0.622		NA											False	0	False	7:99527179	0
ELTD1	64123	broad.mit.edu	37	1	79387314	79387314	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:79387314G>T	ENST00000370742.3	-	9	1304	c.1241C>A	c.(1240-1242)tCc>tAc	p.S414Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	414	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGACCAGAGGACATCAAAAT	0.383		NA											False	0	False	1:79387314	0
RP11-867G23.8	0	broad.mit.edu	37	11	66130881	66130881	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:66130881C>A	ENST00000531602.1	+	2	263	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	SLC29A2_ENST00000544554.1_3'UTR|SLC29A2_ENST00000546034.1_3'UTR|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000357440.2_3'UTR|SLC29A2_ENST00000311161.7_3'UTR						NA								p.L44M(1)		kidney(1)	1						CGAGAAGAGGCTGCCAAAGAG	0.642		NA											False	0	False	11:66130881	0
PCDH15	65217	broad.mit.edu	37	10	55566772	55566772	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:55566772C>A	ENST00000373965.2	-	36	5016	c.4622G>T	c.(4621-4623)aGt>aTt	p.S1541I	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1538I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.S1538N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGATATTACTGTGGATACT	0.453		NA								HNSCC(58;0.16)			False	0	False	10:55566772	0
MIB2	142678	broad.mit.edu	37	1	1565062	1565062	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:1565062C>T	ENST00000378712.1	+	17	2555	c.2230C>T	c.(2230-2232)Cgt>Tgt	p.R744C	MIB2_ENST00000518681.1_Silent_p.V919V|MIB2_ENST00000505820.2_Silent_p.V984V|MIB2_ENST00000360522.4_Silent_p.V892V|MIB2_ENST00000520777.1_Silent_p.V980V|MIB2_ENST00000357210.4_Silent_p.V927V|MIB2_ENST00000378710.3_Silent_p.V891V|MIB2_ENST00000355826.5_Silent_p.V970V|MIB2_ENST00000378708.1_Silent_p.V833V|MIB2_ENST00000504599.1_Silent_p.V883V	NM_001170689.1	NP_001164160.1	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	865					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCAGGTGGTCGTCAGCAAGA	0.697		NA											False	0	False	1:1565062	0
ACTL9	284382	broad.mit.edu	37	19	8808115	8808115	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:8808115C>T	ENST00000324436.3	-	1	1057	c.937G>A	c.(937-939)Gtc>Atc	p.V313I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	313						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						GAGAGGCCGACGGGTGACAGC	0.647		NA											False	0	True	19:8808115	0
ASTN1	460	broad.mit.edu	37	1	177001821	177001821	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:177001821G>A	ENST00000367654.3	-	3	847	c.636C>T	c.(634-636)caC>caT	p.H212H	ASTN1_ENST00000367657.3_Silent_p.H212H|ASTN1_ENST00000424564.2_Silent_p.H212H|ASTN1_ENST00000361833.2_Silent_p.H212H|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	NA					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCCCGTCCGTGCCCGCCGA	0.627		NA											False	0	True	1:177001821	0
TCTE1	202500	broad.mit.edu	37	6	44255545	44255545	+	Silent	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:44255545C>A	ENST00000371505.4	-	2	140	c.18G>T	c.(16-18)acG>acT	p.T6T	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	6										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGCTGATGTCGTTACGGTAT	0.562		NA											False	0	False	6:44255545	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887348	179887348	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:179887348G>A	ENST00000606911.2	+	10	1917	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.A577T|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.A455T|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.A592T			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	NA						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ACCTGAAAATGCCCTGAAAAG	0.428		NA											False	0	True	1:179887348	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	NA					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.?(24)|p.0?(8)|p.I332fs*49(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)		AGACTTAGTACCTGAAGGGTG	0.458		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	17:7576852	0
TRAV9-2	0	broad.mit.edu	37	14	22409639	22409639	+	RNA	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:22409639G>A	ENST00000390441.2	+	0	185										NA											NA						TAAACTGCACGTACACAGCCA	0.488		NA											False	0	False	14:22409639	0
USP10	9100	broad.mit.edu	37	16	84812641	84812641	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:84812641G>A	ENST00000219473.7	+	14	2463	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	USP10_ENST00000570191.1_Missense_Mutation_p.E788K	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	784					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ACCAACTGCTGAACGCACAGC	0.572		NA											False	0	False	16:84812641	0
TLR4	7099	broad.mit.edu	37	9	120475078	120475078	+	Silent	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:120475078A>G	ENST00000355622.6	+	3	773	c.672A>G	c.(670-672)aaA>aaG	p.K224K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.K184K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	224					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTGCATTTAAAGAAATTAGGC	0.373		NA											False	0	True	9:120475078	0
ZFAT	57623	broad.mit.edu	37	8	135545161	135545161	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:135545161G>A	ENST00000520727.1	-	13	3294	c.2995C>T	c.(2995-2997)Cgg>Tgg	p.R999W	ZFAT_ENST00000523399.1_Missense_Mutation_p.R949W|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000377838.3_Missense_Mutation_p.R1011W|ZFAT_ENST00000520356.1_Missense_Mutation_p.R999W|ZFAT_ENST00000429442.2_Missense_Mutation_p.R999W|ZFAT_ENST00000520214.1_Missense_Mutation_p.R999W	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1011					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTGTAGTGCCGCTTCAGAGAG	0.592		NA											False	0	False	8:135545161	0
ACE	1636	broad.mit.edu	37	17	61561229	61561229	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:61561229C>G	ENST00000290866.4	+	11	1630	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V	ACE_ENST00000428043.1_Missense_Mutation_p.L536V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	536	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGTTTTGTCCTGCAGTTCCA	0.592		NA											False	0	False	17:61561229	0
NACA	4666	broad.mit.edu	37	12	57110765	57110765	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:57110765G>C	ENST00000454682.1	-	3	4830	c.4549C>G	c.(4549-4551)Cca>Gca	p.P1517A	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGACCTCTTTG	0.587		NA	T	BCL6	NHL								False	0	True	12:57110765	0
WNK4	65266	broad.mit.edu	37	17	40940393	40940393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:40940393C>T	ENST00000246914.5	+	10	2029	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	670					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAATCTCCGGCGCAGACCCCG	0.577		NA											False	0	False	17:40940393	0
CDH8	1006	broad.mit.edu	37	16	61935231	61935231	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:61935231G>A	ENST00000577390.1	-	3	1353	c.399C>T	c.(397-399)acC>acT	p.T133T	CDH8_ENST00000584337.1_Silent_p.T133T|CDH8_ENST00000577730.1_Silent_p.T133T|CDH8_ENST00000299345.6_Silent_p.T133T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGCTGTTAGGGTATACTCAG	0.418		NA											False	0	True	16:61935231	0
OR4S1	256148	broad.mit.edu	37	11	48328426	48328426	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:48328426A>G	ENST00000319988.1	+	1	652	c.652A>G	c.(652-654)Atc>Gtc	p.I218V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTCCTATGTTATCATCTTACT	0.468		NA											False	0	False	11:48328426	0
PPP2R1B	5519	broad.mit.edu	37	11	111624222	111624222	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:111624222T>C	ENST00000527614.1	-	9	1174	c.1109A>G	c.(1108-1110)aAa>aGa	p.K370R	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.K243R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.K209R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.K306R|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.K370R|PPP2R1B_ENST00000341980.6_Intron	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	370							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GGTATTTTCTTTGCCCAAAAT	0.338		NA											False	0	True	11:111624222	0
AREL1	9870	broad.mit.edu	37	14	75136745	75136745	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:75136745C>G	ENST00000356357.4	-	14	2208	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1	NA											NA						AGAGAGGACTCATAGAGACAC	0.537		NA											False	0	False	14:75136745	0
ZNF491	126069	broad.mit.edu	37	19	11917498	11917498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:11917498G>T	ENST00000323169.5	+	3	1061	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAAACCCTATGAATGTAAACT	0.418		NA											False	0	False	19:11917498	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	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
DAAM1	23002	broad.mit.edu	37	14	59820665	59820665	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:59820665T>C	ENST00000395125.1	+	19	2392	c.2369T>C	c.(2368-2370)gTg>gCg	p.V790A	DAAM1_ENST00000351081.1_Missense_Mutation_p.V790A|DAAM1_ENST00000360909.3_Missense_Mutation_p.V780A|DAAM1_ENST00000553966.1_Intron	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	790	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGCAGAAGTGAAACCTAAA	0.363		NA											False	0	False	14:59820665	0
ZFHX3	463	broad.mit.edu	37	16	72923765	72923765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:72923765G>A	ENST00000268489.5	-	4	3985	c.3313C>T	c.(3313-3315)Cag>Tag	p.Q1105*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q191*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1105					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			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)				CGCACATGCTGGATGAGGTTG	0.592		NA											False	0	False	16:72923765	0
NFAM1	150372	broad.mit.edu	37	22	42781196	42781196	+	Missense_Mutation	SNP	C	C	T	rs145224229		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42781196C>T	ENST00000329021.5	-	6	821	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	262					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						AGGTTAAGTTCGCCATCATCT	0.502		NA											False	0	False	22:42781196	0
SPTA1	6708	broad.mit.edu	37	1	158618345	158618345	+	Missense_Mutation	SNP	C	C	T	rs148714399	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:158618345C>T	ENST00000368147.4	-	26	3848	c.3668G>A	c.(3667-3669)cGa>cAa	p.R1223Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1223Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATGCCGTCGCTGAAGAGC	0.507		NA											False	0	False	1:158618345	0
GPRASP1	9737	broad.mit.edu	37	X	101910080	101910080	+	Silent	SNP	C	C	T	rs144058687	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:101910080C>T	ENST00000537097.1	+	6	2052	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.D413D|GPRASP1_ENST00000415986.1_Silent_p.D413D|GPRASP1_ENST00000361600.5_Silent_p.D413D	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	413						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGCTACAGACGAGTCCAGCA	0.542		NA											False	0	False	X:101910080	0
PPIL1	51645	broad.mit.edu	37	6	36824364	36824364	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:36824364G>A	ENST00000373699.5	-	3	529	c.278C>T	c.(277-279)aCg>aTg	p.T93M	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	93	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ACACTTACCCGTGAATTTCAA	0.463		NA											False	0	True	6:36824364	0
CNGA4	1262	broad.mit.edu	37	11	6265298	6265298	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:6265298A>G	ENST00000379936.2	+	6	1502	c.1387A>G	c.(1387-1389)Atc>Gtc	p.I463V		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	463					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACAGACCATCATGGAGGA	0.552		NA											False	0	False	11:6265298	0
