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
RP11-206L10.2	0	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	T	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:700532delT	ENST00000428504.1	-	0	1021					NR_033908.1					NA											NA						aaaaaaaaaaTTCCTTTGGGA	0.453		NA											False	2	True	1:700532	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
PUS3	83480	broad.mit.edu	37	11	125763815	125763816	+	Frame_Shift_Ins	INS	-	-	TCAA			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:125763815_125763816insTCAA	ENST00000530811.1	-	3	1355_1356	c.1310_1311insTTGA	c.(1309-1311)gagfs	p.E437fs	HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Frame_Shift_Ins_p.E437fs			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	437						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AATGTGGGTGCTCAATTCGTCC	0.465		NA											False	1	False	11:125763815	0
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638		NA											False	1	False	12:49445039	0
PRPF40B	25766	broad.mit.edu	37	12	50025192	50025200	+	In_Frame_Del	DEL	TCCAGGGAT	TCCAGGGAT	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	TCCAGGGAT	TCCAGGGAT	-	-	TCCAGGGAT	TCCAGGGAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:50025192_50025200delTCCAGGGAT	ENST00000261897.1	+	2	560_568	c.9_17delTCCAGGGAT	c.(7-18)cctccagggatc>ccc	p.PGI4del	PRPF40B_ENST00000380281.1_In_Frame_Del_p.PGI10del|PRPF40B_ENST00000548825.2_In_Frame_Del_p.PGI32del			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	10	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGATGCCCCCTCCAGGGATCCCCCCACCC	0.584		NA											False	1	True	12:50025192	0
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs142857579		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661		NA											False	1	False	1:152671515	0
HNF1B	6928	broad.mit.edu	37	17	36070591	36070597	+	Frame_Shift_Del	DEL	TCACCAT	TCACCAT	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	TCACCAT	TCACCAT	-	-	TCACCAT	TCACCAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:36070591_36070597delTCACCAT	ENST00000560016.1	-	5	1253_1259	c.1120_1126delATGGTGA	c.(1120-1128)atggtgaccfs	p.MVT374fs	HNF1B_ENST00000225893.4_Frame_Shift_Del_p.MVT374fs|HNF1B_ENST00000427275.2_Frame_Shift_Del_p.MVT348fs|HNF1B_ENST00000561193.1_Frame_Shift_Del_p.MVT348fs			P35680	HNF1B_HUMAN	HNF1 homeobox B	374					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GACTGGCTGGTCACCATGGCGCTGTTG	0.536		NA											False	1	False	17:36070591	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71		NA											False	1	False	19:14083667	0
SLC4A7	9497	broad.mit.edu	37	3	27473146	27473151	+	In_Frame_Del	DEL	CTGAAA	CTGAAA	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CTGAAA	CTGAAA	-	-	CTGAAA	CTGAAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:27473146_27473151delCTGAAA	ENST00000295736.5	-	7	831_836	c.761_766delTTTCAG	c.(760-768)ctttcagcc>ccc	p.254_256LSA>P	SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000440156.1_In_Frame_Del_p.250_252LSA>P|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_In_Frame_Del_p.246_248LSA>P|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000445684.1_In_Frame_Del_p.250_252LSA>P|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000425128.2_In_Frame_Del_p.246_248LSA>P|SLC4A7_ENST00000454389.1_In_Frame_Del_p.263_265LSA>P	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	254						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGGCGGGAGGCTGAAAGGCCTTCCCC	0.388		NA											False	1	True	3:27473146	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
ZNF181	339318	broad.mit.edu	37	19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:35232275T>C	ENST00000392232.3	+	6	1289	c.1121T>C	c.(1120-1122)tTt>tCt	p.F374S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398		NA											False	0	True	19:35232275	0
RASGRF1	5923	broad.mit.edu	37	15	79323771	79323771	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:79323771G>A	ENST00000419573.3	-	8	1507	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y411Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	411	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGACTTGGCGTAGTCCAGGC	0.637		NA											False	0	False	15:79323771	0
DMD	1756	broad.mit.edu	37	X	32486730	32486730	+	Missense_Mutation	SNP	C	C	T	rs139772014		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:32486730C>T	ENST00000357033.4	-	23	3253	c.3047G>A	c.(3046-3048)cGg>cAg	p.R1016Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1016					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGATATTTCCGGCTAATTTC	0.433		NA											False	0	False	X:32486730	0
SLC17A7	57030	broad.mit.edu	37	19	49935855	49935855	+	Silent	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:49935855G>T	ENST00000221485.3	-	9	1242	c.1071C>A	c.(1069-1071)atC>atA	p.I357I	SLC17A7_ENST00000600601.1_Silent_p.I290I|SLC17A7_ENST00000543531.1_Silent_p.I345I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	357					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCTGGCCGCCGATGGGCACGA	0.672		NA											False	0	False	19:49935855	0
TNFRSF1B	7133	broad.mit.edu	37	1	12251922	12251922	+	Silent	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:12251922G>T	ENST00000376259.3	+	4	488	c.399G>T	c.(397-399)ggG>ggT	p.G133G	TNFRSF1B_ENST00000536782.1_Silent_p.G133G|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	133					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	AGCAGGAGGGGTGCCGGCTGT	0.692		NA											False	0	True	1:12251922	0
ZNF420	147923	broad.mit.edu	37	19	37618172	37618172	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:37618172A>C	ENST00000337995.3	+	5	494	c.279A>C	c.(277-279)aaA>aaC	p.K93N	ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAGCCAAAGGCAAGATGG	0.368		NA											False	0	True	19:37618172	0
DYNC2H1	79659	broad.mit.edu	37	11	103057008	103057008	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:103057008A>T	ENST00000375735.2	+	42	6815	c.6671A>T	c.(6670-6672)cAc>cTc	p.H2224L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2224					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAGACTTTCACAAACCTATG	0.393		NA											False	0	False	11:103057008	0
HIST3H3	8290	broad.mit.edu	37	1	228612733	228612733	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228612733C>A	ENST00000366696.1	-	1	293	c.294G>T	c.(292-294)gaG>gaT	p.E98D		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	98					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CCAGGTAAGACTCGCACGCCT	0.602		NA											False	0	False	1:228612733	0
DHX36	170506	broad.mit.edu	37	3	154018452	154018452	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:154018452C>T	ENST00000496811.1	-	11	1472	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	DHX36_ENST00000544526.1_Missense_Mutation_p.M464I|DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000308361.6_Missense_Mutation_p.M464I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	464						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CATCCTCCATCATTTCTATAA	0.313		NA											False	0	False	3:154018452	0
KRT18P55	0	broad.mit.edu	37	17	26604393	26604393	+	RNA	SNP	A	A	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:26604393A>G	ENST00000577198.1	-	0	568					NR_028334.1					NA											NA						AGAGGACAGGACTCAGGTTTT	0.458		NA											False	0	True	17:26604393	0
LHX6	26468	broad.mit.edu	37	9	124967022	124967022	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:124967022C>T	ENST00000340587.3	-	9	1292	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	LHX6_ENST00000373754.2_Silent_p.P335P|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000541397.2_Silent_p.P353P|LHX6_ENST00000373755.2_3'UTR|LHX6_ENST00000464484.2_Silent_p.P22P|LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000394319.4_3'UTR	NM_199160.3	NP_954629.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	0					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						CGGGCAGATGCGGAAGTGCCG	0.682		NA											False	0	False	9:124967022	0
AMFR	267	broad.mit.edu	37	16	56423115	56423115	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:56423115G>C	ENST00000290649.5	-	9	1468	c.1258C>G	c.(1258-1260)Cac>Gac	p.H420D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	420					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGGAAGAAGTGATTGTGTTGG	0.423		NA											False	0	False	16:56423115	0
MKRN3	7681	broad.mit.edu	37	15	23811532	23811532	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:23811532G>A	ENST00000314520.3	+	1	1079	c.603G>A	c.(601-603)gcG>gcA	p.A201A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	201						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAAGCTGGGCGGATGCCATTG	0.592		NA											False	0	False	15:23811532	0
ZFHX4	79776	broad.mit.edu	37	8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1938	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1983H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458		NA								HNSCC(33;0.089)			False	0	False	8:77765105	0
GNAL	2774	broad.mit.edu	37	18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	6					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGTTTGGGCGGCAACAGCAAG	0.557		NA											False	0	False	18:11752449	0
NEB	4703	broad.mit.edu	37	2	152376273	152376273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:152376273G>A	ENST00000397345.3	-	154	22691	c.22489C>T	c.(22489-22491)Cga>Tga	p.R7497*	NEB_ENST00000172853.10_Nonsense_Mutation_p.R5796*|NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000427231.2_Nonsense_Mutation_p.R7497*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	5796					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATTTTCTCGGTATTTAACC	0.353		NA											False	0	False	2:152376273	0
CYP7A1	1581	broad.mit.edu	37	8	59404241	59404241	+	Silent	SNP	G	G	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:59404241G>C	ENST00000301645.3	-	6	1445	c.1308C>G	c.(1306-1308)ccC>ccG	p.P436P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	436					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCGATCCAAAGGGCATGTAGT	0.353		NA							Neonatal Giant Cell Hepatitis				False	0	True	8:59404241	0
IGF1R	3480	broad.mit.edu	37	15	99482481	99482481	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:99482481G>A	ENST00000268035.6	+	18	3960	c.3349G>A	c.(3349-3351)Gga>Aga	p.G1117R	IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1117	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCAGATGGCCGGAGAGATTGC	0.438		NA											False	0	True	15:99482481	0
MEF2D	4209	broad.mit.edu	37	1	156437921	156437921	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:156437921G>A	ENST00000348159.4	-	11	1898	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P465L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	473					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCCCGGCTGGGCTGCTGAG	0.706		NA											False	0	True	1:156437921	0
MYH11	4629	broad.mit.edu	37	16	15841926	15841926	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:15841926C>T	ENST00000452625.2	-	18	2266	c.2179G>A	c.(2179-2181)Gtc>Atc	p.V727I	MYH11_ENST00000300036.5_Missense_Mutation_p.V720I|MYH11_ENST00000576790.2_Missense_Mutation_p.V720I|MYH11_ENST00000396324.3_Missense_Mutation_p.V727I	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	720	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTGGAAGACGATCCGGTTG	0.647		NA	T	CBFB	AML								False	0	False	16:15841926	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716		NA											False	0	False	4:4228226	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	12:25398285	0
WDR70	55100	broad.mit.edu	37	5	37725121	37725121	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:37725121G>A	ENST00000265107.4	+	16	1839	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	561										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGAAGTCGCATAAACCTG	0.527		NA											False	0	False	5:37725121	0
PPP2R1B	5519	broad.mit.edu	37	11	111626165	111626165	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:111626165G>A	ENST00000527614.1	-	6	762	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	233							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)		GCAAGGAGGCGCACTGAATCC	0.448		NA											False	0	False	11:111626165	0
BAP1	8314	broad.mit.edu	37	3	52439281	52439281	+	Missense_Mutation	SNP	C	C	T	rs143891879		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:52439281C>T	ENST00000460680.1	-	11	1432	c.961G>A	c.(961-963)Gca>Aca	p.A321T	BAP1_ENST00000296288.5_Missense_Mutation_p.A303T	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	321					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGGCTTGTGCGCATGAACCA	0.597		NA	"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							False	0	False	3:52439281	0
CGRRF1	10668	broad.mit.edu	37	14	55004518	55004518	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:55004518T>G	ENST00000216420.7	+	5	781	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	217					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATATTTACTCTTGGCTCAAGG	0.338		NA											False	0	False	14:55004518	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323		NA											False	0	False	18:14513734	0
ZNF485	220992	broad.mit.edu	37	10	44104721	44104721	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:44104721C>A	ENST00000361807.3	+	4	364	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TCTTCCAAACCAAAACTAATT	0.468		NA											False	0	True	10:44104721	0
TIAM2	26230	broad.mit.edu	37	6	155575617	155575617	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:155575617C>T	ENST00000461783.3	+	28	5651	c.4378C>T	c.(4378-4380)Cgt>Tgt	p.R1460C	TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1460	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAACTTCAGGCGTCACATAAA	0.458		NA											False	0	False	6:155575617	0
QSER1	79832	broad.mit.edu	37	11	32956817	32956817	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:32956817G>A	ENST00000399302.2	+	4	3961	c.3626G>A	c.(3625-3627)gGt>gAt	p.G1209D	QSER1_ENST00000527788.1_Missense_Mutation_p.G970D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1209										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAAACTGGCGGTAACAGTCCA	0.423		NA											False	0	False	11:32956817	0
XKR4	114786	broad.mit.edu	37	8	56015735	56015735	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:56015735C>A	ENST00000327381.6	+	1	787	c.687C>A	c.(685-687)agC>agA	p.S229R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	NA						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGGCCAACAGCGGCAGCAACA	0.647		NA											False	0	False	8:56015735	0
ASPA	443	broad.mit.edu	37	17	3397713	3397713	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:3397713A>G	ENST00000263080.2	+	5	862	c.704A>G	c.(703-705)gAa>gGa	p.E235G	ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	235					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CCCCGGGATGAAAATGGAGAA	0.343		NA											False	0	True	17:3397713	0
OR9A4	130075	broad.mit.edu	37	7	141618819	141618819	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:141618819C>T	ENST00000548136.1	+	1	203	c.144C>T	c.(142-144)gtC>gtT	p.V48V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCATGATTGTCTGTGTGGATA	0.453		NA											False	0	True	7:141618819	0
DCDC1	341019	broad.mit.edu	37	11	30926703	30926703	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:30926703C>A	ENST00000597505.1	-	29	4112	c.4113G>T	c.(4111-4113)ttG>ttT	p.L1371F	DCDC1_ENST00000406071.2_Missense_Mutation_p.L106F|DCDC1_ENST00000339794.5_Missense_Mutation_p.L450F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTCACACGACAAATCAACCt	0.363		NA											False	0	True	11:30926703	0
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433		NA											False	0	False	6:150715311	0
NLRP9	338321	broad.mit.edu	37	19	56244180	56244180	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:56244180C>T	ENST00000332836.2	-	2	1044	c.1017G>A	c.(1015-1017)acG>acA	p.T339T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	339	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCAACCAGCACGTAAAGGGAT	0.413		NA											False	0	False	19:56244180	0
XIST	0	broad.mit.edu	37	X	73065231	73065231	+	RNA	SNP	T	T	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:73065231T>C	ENST00000429829.1	-	0	7357					NR_001564.2					NA											NA						TGTGCAGTTATGCACATTCAT	0.498		NA											False	0	False	X:73065231	0
TTN	7273	broad.mit.edu	37	2	179436797	179436797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:179436797G>A	ENST00000589042.1	-	326	74286	c.74062C>T	c.(74062-74064)Cgt>Tgt	p.R24688C	TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|TTN_ENST00000460472.2_Missense_Mutation_p.R15623C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN_ENST00000591111.1_Missense_Mutation_p.R23047C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23047	Fibronectin type-III 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGAAACACGGAAAGAGTAT	0.478		NA											False	0	False	2:179436797	0
C10orf90	118611	broad.mit.edu	37	10	128193207	128193207	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:128193207G>A	ENST00000284694.7	-	3	682	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	C10orf90_ENST00000454341.1_Missense_Mutation_p.R188W|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.R141W|C10orf90_ENST00000544758.1_Missense_Mutation_p.R285W|C10orf90_ENST00000392694.1_Missense_Mutation_p.R141W	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	188										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGATGCCGACCTGGATGG	0.627		NA									OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:128193207	0
ALG1L	200810	broad.mit.edu	37	3	125649457	125649457	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:125649457C>T	ENST00000340333.3	-	5	454	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	97							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CTTCATGTTTCACCAGCTCAT	0.597		NA											False	0	True	3:125649457	0
GBA3	57733	broad.mit.edu	37	4	22737642	22737642	+	RNA	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:22737642G>T	ENST00000508166.1	+	0	199				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)	NA					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGTGTCTGGGACACATTTAC	0.448		NA											False	0	True	4:22737642	0
GRID2	2895	broad.mit.edu	37	4	94376883	94376883	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:94376883G>A	ENST00000282020.4	+	11	1874	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	GRID2_ENST00000510992.1_Missense_Mutation_p.R444H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTACGACACGTTACATGGAC	0.443		NA											False	0	False	4:94376883	0
SLC35B2	347734	broad.mit.edu	37	6	44223304	44223304	+	Nonstop_Mutation	SNP	A	A	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:44223304A>T	ENST00000393810.1	-	3	426	c.283T>A	c.(283-285)Tga>Aga	p.*95R	SLC35B2_ENST00000393812.3_Silent_p.G146G|SLC35B2_ENST00000538577.1_Silent_p.G53G|SLC35B2_ENST00000537814.1_Silent_p.G13G|SLC35B2_ENST00000495706.1_5'UTR			Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAAAGCGCTCACCCGGTGATG	0.572		NA											False	0	True	6:44223304	0
DICER1	23405	broad.mit.edu	37	14	95572489	95572489	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:95572489T>A	ENST00000526495.1	-	20	3167	c.2876A>T	c.(2875-2877)aAa>aTa	p.K959I	DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I|DICER1_ENST00000343455.3_Missense_Mutation_p.K959I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	959	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGAAGGAAATTTACTGAGTGG	0.373		NA	"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	True	14:95572489	0
EMP3	2014	broad.mit.edu	37	19	48833591	48833591	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:48833591C>G	ENST00000270221.6	+	5	657	c.356C>G	c.(355-357)gCc>gGc	p.A119G	EMP3_ENST00000596315.1_Missense_Mutation_p.A50G|EMP3_ENST00000597279.1_Missense_Mutation_p.A119G	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	119					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TTGATCTATGCCATTCACGCC	0.607		NA											False	0	False	19:48833591	0
DNAH10	196385	broad.mit.edu	37	12	124323215	124323215	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:124323215C>T	ENST00000409039.3	+	28	4786	c.4761C>T	c.(4759-4761)tgC>tgT	p.C1587C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1587	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCACTCTGCGTCCAGGAGC	0.537		NA											False	0	False	12:124323215	0
HAUS5	23354	broad.mit.edu	37	19	36104957	36104957	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:36104957C>G	ENST00000203166.5	+	4	240	c.215C>G	c.(214-216)cCa>cGa	p.P72R	HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	72					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.P72L(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CAGGACAGTCCACAGGTGAGA	0.537		NA											False	0	False	19:36104957	0
KDM3A	55818	broad.mit.edu	37	2	86693827	86693827	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:86693827C>T	ENST00000409556.1	+	11	1705	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	447			S -> P (in dbSNP:rs34605051).		androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCTTCCCCATCGGATGTTTCA	0.448		NA											False	0	False	2:86693827	0
ARHGEF40	55701	broad.mit.edu	37	14	21544779	21544779	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:21544779C>T	ENST00000298694.4	+	7	2021	c.1894C>T	c.(1894-1896)Cca>Tca	p.P632S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P632S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	632					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGATGACCTTCCAACTGAACT	0.517		NA											False	0	False	14:21544779	0
PPP1R3C	5507	broad.mit.edu	37	10	93389939	93389939	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:93389939C>G	ENST00000238994.5	-	2	783	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	233	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AAATGCAGAACTCAATTTTCT	0.408		NA											False	0	False	10:93389939	0
LRRC17	10234	broad.mit.edu	37	7	102585031	102585031	+	Missense_Mutation	SNP	G	G	A	rs117261467	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:102585031G>A	ENST00000339431.4	+	4	1598	c.1303G>A	c.(1303-1305)Gta>Ata	p.V435I	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000249377.4_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	435					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGCAAAGCGTAATAATTAC	0.318		NA											False	0	False	7:102585031	0
TBC1D9	23158	broad.mit.edu	37	4	141543578	141543578	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:141543578C>T	ENST00000442267.2	-	21	3646	c.3572G>A	c.(3571-3573)cGg>cAg	p.R1191Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1191						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGCTCCGCACCAGGAC	0.662		NA											False	0	False	4:141543578	0
MCF2L	23263	broad.mit.edu	37	13	113678964	113678964	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr13:113678964G>A	ENST00000397030.1	+	3	306	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R87Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	87	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCAGGTGGGCGGGGGCAGGAC	0.612		NA											False	0	True	13:113678964	0
ABCA12	26154	broad.mit.edu	37	2	215891634	215891634	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:215891634C>T	ENST00000272895.7	-	10	1309	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	364					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTAAGAGGGCATCTTCAAAG	0.353		NA											False	0	True	2:215891634	0
NBPF10	100132406	broad.mit.edu	37	1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1191										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483		NA											False	0	False	1:145324377	0
KMT2C	58508	broad.mit.edu	37	7	151933008	151933008	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:151933008G>A	ENST00000355193.2	-	16	2881	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F					lysine (K)-specific methyltransferase 2C	NA											NA						TGGAAATCCAGACCCACGGCC	0.453		NA											False	0	False	7:151933008	0
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:7578235T>G	ENST00000420246.2	-	6	746	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		GTCATCCAAATACTCCACACG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	True	17:7578235	0
CLCA1	1179	broad.mit.edu	37	1	86961301	86961301	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:86961301C>T	ENST00000234701.3	+	13	2407	c.2056C>T	c.(2056-2058)Cgg>Tgg	p.R686W	CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	686					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CGCAGCCAGACGGAGAGTGAT	0.453		NA											False	0	False	1:86961301	0
TSHZ3	57616	broad.mit.edu	37	19	31770055	31770055	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31770055C>T	ENST00000240587.4	-	2	971	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	215					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCCTTACAGCGGAACTTGCT	0.612		NA											False	0	False	19:31770055	0
ADAMTSL4	54507	broad.mit.edu	37	1	150527952	150527952	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:150527952C>T	ENST00000271643.4	+	8	1518	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C|RP11-54A4.2_ENST00000442435.2_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	428					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGTGGCTTCCGCTTCTATGT	0.607		NA											False	0	False	1:150527952	0
ARHGAP44	9912	broad.mit.edu	37	17	12883530	12883530	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:12883530G>A	ENST00000379672.5	+	19	2219	c.1919G>A	c.(1918-1920)aGt>aAt	p.S640N	ARHGAP44_ENST00000578087.1_3'UTR|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S634N|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S640N	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	640					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCAGACCAGAGTCCTCACACC	0.642		NA											False	0	False	17:12883530	0
MLLT3	4300	broad.mit.edu	37	9	20414334	20414334	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:20414334G>A	ENST00000380338.4	-	5	796	c.510C>T	c.(508-510)agC>agT	p.S170S	MLLT3_ENST00000429426.2_Silent_p.S167S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	170	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctgctac	0.537		NA	T	MLL	ALL								False	0	True	9:20414334	0
INADL	10207	broad.mit.edu	37	1	62455974	62455974	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:62455974A>C	ENST00000371158.2	+	28	3919	c.3805A>C	c.(3805-3807)Att>Ctt	p.I1269L	INADL_ENST00000543708.1_Missense_Mutation_p.I53L|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.I1269L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1269	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGTGGTGGGAATTAACCCGGA	0.428		NA											False	0	False	1:62455974	0
LHX9	56956	broad.mit.edu	37	1	197889248	197889248	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:197889248C>T	ENST00000367390.3	+	3	321	c.294C>T	c.(292-294)tcC>tcT	p.S98S	LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000337020.2_Silent_p.S107S|LHX9_ENST00000367387.4_Silent_p.S107S|LHX9_ENST00000367391.1_Silent_p.S98S	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	107	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S107S(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557		NA											False	0	False	1:197889248	0
USP10	9100	broad.mit.edu	37	16	84806216	84806216	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:84806216G>A	ENST00000219473.7	+	12	2181	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	USP10_ENST00000570191.1_Missense_Mutation_p.V694I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	690					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						GAAACGATTCGTTTATGAGAA	0.443		NA											False	0	True	16:84806216	0
UTRN	7402	broad.mit.edu	37	6	144759999	144759999	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:144759999A>C	ENST00000367545.3	+	11	1360	c.1360A>C	c.(1360-1362)Aaa>Caa	p.K454Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	454	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGATGATGTAAAATCTCTACA	0.433		NA											False	0	True	6:144759999	0
IGF2R	3482	broad.mit.edu	37	6	160517606	160517606	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:160517606C>T	ENST00000356956.1	+	45	6939	c.6791C>T	c.(6790-6792)gCc>gTc	p.A2264V	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2264					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CACGAGACTGCCGACTGCCAG	0.537		NA											False	0	True	6:160517606	0
ACLY	47	broad.mit.edu	37	17	40030190	40030190	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:40030190G>A	ENST00000352035.2	-	23	2646	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	ACLY_ENST00000590151.1_Missense_Mutation_p.S839L|ACLY_ENST00000393896.2_Missense_Mutation_p.S829L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	839					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGTCATGAACGAGGCAGGTTT	0.587		NA											False	0	False	17:40030190	0
RPL32	6161	broad.mit.edu	37	3	12877678	12877678	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12877678C>T	ENST00000429711.2	-	4	422	c.323G>A	c.(322-324)cGc>cAc	p.R108H	RPL32_ENST00000396957.1_Missense_Mutation_p.R108H|RPL32_ENST00000273223.6_Missense_Mutation_p.R126H|RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	108					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GATGGCTTTGCGGTTCTTGGA	0.507		NA											False	0	False	3:12877678	0
CAND2	23066	broad.mit.edu	37	3	12869094	12869094	+	Silent	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12869094C>T	ENST00000456430.2	+	13	3407	c.3366C>T	c.(3364-3366)taC>taT	p.Y1122Y	CAND2_ENST00000295989.5_Silent_p.Y1005Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1122					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGACCACTACGACATCCGGG	0.562		NA											False	0	False	3:12869094	0
PEG3	5178	broad.mit.edu	37	19	57327998	57327998	+	Silent	SNP	G	G	A	rs143113379		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:57327998G>A	ENST00000326441.9	-	10	2175	c.1812C>T	c.(1810-1812)cgC>cgT	p.R604R	PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.R478R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.R480R|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGTTTCCCCGCGCtcacgtt	0.463		NA											False	0	True	19:57327998	0
C9orf139	401563	broad.mit.edu	37	9	139929195	139929195	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:139929195T>A	ENST00000314330.2	+	3	1776	c.262T>A	c.(262-264)Tgt>Agt	p.C88S		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	88										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		CCTTCCTGTTTGTGCTGCCAG	0.677		NA											False	0	True	9:139929195	0
PLD5	200150	broad.mit.edu	37	1	242271086	242271086	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:242271086C>T	ENST00000536534.2	-	8	1367	c.1126G>A	c.(1126-1128)Gtt>Att	p.V376I	PLD5_ENST00000442594.2_Missense_Mutation_p.V284I|PLD5_ENST00000427495.1_Missense_Mutation_p.V314I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	NA						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGAACTCTAACGCTTCGTAAA	0.358		NA											False	0	False	1:242271086	0
IL4R	3566	broad.mit.edu	37	16	27356274	27356274	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:27356274C>A	ENST00000395762.2	+	5	553	c.294C>A	c.(292-294)aaC>aaA	p.N98K	IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K|IL4R_ENST00000449195.1_Missense_Mutation_p.N98K|IL4R_ENST00000170630.2_Missense_Mutation_p.N98K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	98					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGCGGATAACTATACACTGG	0.642		NA											False	0	False	16:27356274	0
TSHZ3	57616	broad.mit.edu	37	19	31769290	31769290	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31769290A>C	ENST00000240587.4	-	2	1736	c.1409T>G	c.(1408-1410)gTc>gGc	p.V470G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	470					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCCTTCTTGACCTCCACATT	0.532		NA											False	0	False	19:31769290	0
HECTD1	25831	broad.mit.edu	37	14	31575880	31575880	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:31575880C>T	ENST00000399332.1	-	38	7686	c.7198G>A	c.(7198-7200)Ggg>Agg	p.G2400R	HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2400	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTGGAGGCCCAGAACCTGAT	0.378		NA											False	0	True	14:31575880	0
PREX2	80243	broad.mit.edu	37	8	69033248	69033248	+	Missense_Mutation	SNP	C	C	T	rs143386950		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:69033248C>T	ENST00000288368.4	+	30	3965	c.3688C>T	c.(3688-3690)Cgg>Tgg	p.R1230W		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1230					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCAGCGTCCGGACTCTTGC	0.383		NA											False	0	False	8:69033248	0
PCBP3	54039	broad.mit.edu	37	21	47355186	47355186	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:47355186G>A	ENST00000400314.1	+	14	1214	c.876G>A	c.(874-876)ccG>ccA	p.P292P	PCBP3_ENST00000400309.1_Silent_p.P291P|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400308.1_Silent_p.P266P|PCBP3_ENST00000400304.1_Silent_p.P282P|PCBP3_ENST00000400310.1_Silent_p.P272P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	292					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGCCCACCGGCCAGCACTC	0.582		NA											False	0	False	21:47355186	0
MORC1	27136	broad.mit.edu	37	3	108746697	108746697	+	Silent	SNP	G	G	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:108746697G>T	ENST00000232603.5	-	17	1687	c.1605C>A	c.(1603-1605)ggC>ggA	p.G535G	MORC1_ENST00000483760.1_Silent_p.G535G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	535					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCTCATGGTGCCCAGTGGGA	0.398		NA											False	0	True	3:108746697	0
WNT3A	89780	broad.mit.edu	37	1	228238515	228238515	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228238515G>A	ENST00000284523.1	+	3	550	c.472G>A	c.(472-474)Gac>Aac	p.D158N	WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	158					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTGTAGCGAGGACATCGAGTT	0.657		NA											False	0	False	1:228238515	0
LILRA3	0	broad.mit.edu	37	19	54803682	54803682	+	Silent	SNP	T	T	G			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:54803682T>G	ENST00000391745.1	-	7	509	c.193A>C	c.(193-195)Agg>Cgg	p.R65R	LILRA3_ENST00000391744.3_Silent_p.R48R|LILRA3_ENST00000251390.3_Silent_p.R48R					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	NA										NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGACACCTGAGGGTCACA	0.547		NA											False	0	False	19:54803682	0
TRIM42	287015	broad.mit.edu	37	3	140406735	140406735	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:140406735C>T	ENST00000286349.3	+	3	1402	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	404						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTAGAAGTGTCCAGGCAGAAG	0.433		NA											False	0	False	3:140406735	0
MDN1	23195	broad.mit.edu	37	6	90432759	90432759	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:90432759T>C	ENST00000369393.3	-	40	5997	c.5882A>G	c.(5881-5883)gAc>gGc	p.D1961G	MDN1_ENST00000428876.1_Missense_Mutation_p.D1961G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1961					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			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)		AGGGGACTGGTCAACCAGCAT	0.478		NA											False	0	False	6:90432759	0
GART	2618	broad.mit.edu	37	21	34878358	34878358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:34878358G>A	ENST00000381831.3	-	19	2769	c.2506C>T	c.(2506-2508)Caa>Taa	p.Q836*	GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836*|GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	836	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATATCAATTTGTGCAGAGCTA	0.418		NA											False	0	True	21:34878358	0
TAP1	6890	broad.mit.edu	37	6	32820990	32820990	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:32820990C>T	ENST00000354258.4	-	1	765	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	202					antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GCATAACTGACAACGAAGGCG	0.657		NA											False	0	False	6:32820990	0
NOL4	8715	broad.mit.edu	37	18	31538269	31538269	+	Silent	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:31538269G>A	ENST00000261592.5	-	7	1467	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	NOL4_ENST00000535475.1_Silent_p.D235D|NOL4_ENST00000535384.1_Silent_p.D105D|NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000538587.1_Silent_p.D316D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	390						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AATCGTCATGGTCCTCGTGGT	0.493		NA											False	0	False	18:31538269	0
CNBP	7555	broad.mit.edu	37	3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	169					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448		NA											False	0	True	3:128889325	0
PCDHB13	0	broad.mit.edu	37	5	140594777	140594777	+	Missense_Mutation	SNP	C	C	T	rs148992616		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:140594777C>T	ENST00000341948.4	+	1	1269	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		361	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A361V(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAGAACGCGCCTGAAACT	0.448		NA											False	0	False	5:140594777	0
