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
KRTAP5-4	387267	broad.mit.edu	37	11	1643020	1643049	+	In_Frame_Del	DEL	CACAGCCCCCCTTGGAACCCCCACAGGAGA	CACAGCCCCCCTTGGAACCCCCACAGGAGA	-	rs58877168		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	CACAGCCCCCCTTGGAACCCCCACAGGAGA	CACAGCCCCCCTTGGAACCCCCACAGGAGA	-	-	CACAGCCCCCCTTGGAACCCCCACAGGAGA	CACAGCCCCCCTTGGAACCCCCACAGGAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:1643020_1643049delCACAGCCCCCCTTGGAACCCCCACAGGAGA	ENST00000399682.1	-	1	319_348	c.275_304delTCTCCTGTGGGGGTTCCAAGGGGGGCTGTG	c.(274-306)gtctcctgtgggggttccaaggggggctgtggc>ggc	p.VSCGGSKGGC92del		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	92	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGGAGCCACAGCCCCCCTTGGAACCCCCACAGGAGACACAGCCCCC	0.674		NA											False	1	False	11:1643020	0
NBPF16	728936	broad.mit.edu	37	1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16	NA										breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493		NA											False	2	False	1:148753330	0
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	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
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	NA						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579		NA											False	0	False	15:41857341	0
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
KDM6A	7403	broad.mit.edu	37	X	44911012	44911030	+	Frame_Shift_Del	DEL	CTGCACAAGTAAAAGCAAC	CTGCACAAGTAAAAGCAAC	-	rs151193716		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	CTGCACAAGTAAAAGCAAC	CTGCACAAGTAAAAGCAAC	-	-	CTGCACAAGTAAAAGCAAC	CTGCACAAGTAAAAGCAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:44911012_44911030delCTGCACAAGTAAAAGCAAC	ENST00000377967.4	+	9	754_772	c.713_731delCTGCACAAGTAAAAGCAAC	c.(712-732)tctgcacaagtaaaagcaactfs	p.SAQVKAT238fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.SAQVKAT238fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.SAQVKAT238fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.SAQVKAT238fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	238					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAGAATCTTTCTGCACAAGTAAAAGCAACTGTCTTACAA	0.32		NA	"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								False	1	True	X:44911012	0
SETMAR	6419	broad.mit.edu	37	3	4354912	4354945	+	Splice_Site	DEL	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	-	rs138536689		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	-	-	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:4354912_4354945delAGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	ENST00000425863.1	+	2	487_488	c.487_488delAGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	c.(487-489)agg>g	p.R163fs	SETMAR_ENST00000430981.1_Frame_Shift_Del_p.RFVCEYAGEVLG163fs|SETMAR_ENST00000358065.4_Frame_Shift_Del_p.RFVCEYAGEVLG163fs|SUMF1_ENST00000534863.1_Intron	NM_001243723.1	NP_001230652.1	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	289	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ACCGAAAGGAAGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAGGATTCTCTGA	0.406		NA						Chromatin Structure					False	1	False	3:4354912	0
PLSCR2	57047	broad.mit.edu	37	3	146177707	146177707	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:146177707delA	ENST00000497985.1	-	4	643	c.204delT	c.(202-204)cctfs	p.P68fs	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	117					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GTACCCCTTCAGGTCTACCTG	0.507		NA											False	1	False	3:146177707	0
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65		NA											False	2	False	6:159655079	0
CCT8	10694	broad.mit.edu	37	21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368		NA											False	0	False	21:30440001	0
NOP9	161424	broad.mit.edu	37	14	24773449	24773449	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:24773449G>A	ENST00000267425.3	+	8	1706	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	NOP9_ENST00000396802.3_Intron	NM_174913.1	NP_777573.1			NOP9 nucleolar protein	NA											NA						TCTGTGACGCGCAAGCTGCGC	0.557		NA											False	0	False	14:24773449	0
SRRM4	84530	broad.mit.edu	37	12	119568554	119568554	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:119568554T>A	ENST00000267260.4	+	8	1074	c.686T>A	c.(685-687)cTc>cAc	p.L229H	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	229	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAAGACCCTCTGCAAGGAC	0.652		NA											False	0	True	12:119568554	0
CHD6	0	broad.mit.edu	37	20	40052243	40052243	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr20:40052243G>A	ENST00000373233.3	-	30	4621	c.4444C>T	c.(4444-4446)Cgc>Tgc	p.R1482C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1482					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAATGATGCGGAACTGTGTC	0.443		NA											False	0	False	20:40052243	0
AHNAK	79026	broad.mit.edu	37	11	62287090	62287090	+	Silent	SNP	T	T	C			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:62287090T>C	ENST00000378024.4	-	5	15073	c.14799A>G	c.(14797-14799)tcA>tcG	p.S4933S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4933					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTCGGACCTGAAAATCCAA	0.458		NA											False	0	False	11:62287090	0
UGT3A2	167127	broad.mit.edu	37	5	36049023	36049023	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:36049023A>T	ENST00000282507.3	-	4	912	c.811T>A	c.(811-813)Ttg>Atg	p.L271M	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L237M|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	271						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTCCATCAAGCCTCCAACA	0.453		NA											False	0	False	5:36049023	0
GLYATL1	92292	broad.mit.edu	37	11	58723412	58723412	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:58723412G>A	ENST00000300079.5	+	7	964	c.914G>A	c.(913-915)cGc>cAc	p.R305H	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R274H|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	274						mitochondrion	glycine N-acyltransferase activity	p.R305H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAAGACTCCCGCAGATTTGTG	0.448		NA											False	0	True	11:58723412	0
MAGEB2	4113	broad.mit.edu	37	X	30237553	30237553	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:30237553A>T	ENST00000378988.4	+	2	957	c.856A>T	c.(856-858)Atg>Ttg	p.M286L		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	286	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AACCAGCAAGATGAAAGTCCT	0.507		NA											False	0	False	X:30237553	0
ANO3	63982	broad.mit.edu	37	11	26556047	26556047	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:26556047G>A	ENST00000256737.3	+	9	1766	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ANO3_ENST00000525139.1_Missense_Mutation_p.R289Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R289Q|ANO3_ENST00000531568.1_Missense_Mutation_p.R159Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	305						chloride channel complex	chloride channel activity	p.R305Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGCTACTCGAAGCAGAATA	0.348		NA											False	0	False	11:26556047	0
AUP1	550	broad.mit.edu	37	2	74754875	74754875	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr2:74754875G>A	ENST00000377526.3	-	8	1138	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	343						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GACTGGGGGCGCAATCTGGGG	0.512		NA											False	0	False	2:74754875	0
ZNF189	7743	broad.mit.edu	37	9	104170526	104170526	+	Missense_Mutation	SNP	G	G	A	rs146668775		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:104170526G>A	ENST00000374861.3	+	3	718	c.434G>A	c.(433-435)cGc>cAc	p.R145H	ZNF189_ENST00000259395.4_Missense_Mutation_p.R117H|ZNF189_ENST00000339664.2_Missense_Mutation_p.R159H	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	159					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTTTTGTCCGCAAGGCCCAT	0.383		NA											False	0	False	9:104170526	0
EIF3A	8661	broad.mit.edu	37	10	120830492	120830492	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:120830492G>A	ENST00000369144.3	-	5	774	c.647C>T	c.(646-648)aCg>aTg	p.T216M	EIF3A_ENST00000541549.1_Missense_Mutation_p.T182M	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	216					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATTGATTGCCGTACTTTGGTT	0.443		NA											False	0	False	10:120830492	0
SNRPN	6638	broad.mit.edu	37	15	25223413	25223413	+	Silent	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr15:25223413G>A	ENST00000444203.2	+	7	1684	c.645G>A	c.(643-645)acG>acA	p.T215T	SNRPN_ENST00000390687.4_Silent_p.T211T|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Silent_p.T211T|SNRPN_ENST00000554227.2_Silent_p.T215T|SNRPN_ENST00000577565.1_Silent_p.T211T|SNRPN_ENST00000400100.1_Silent_p.T211T|SNRPN_ENST00000400098.1_Silent_p.T211T|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400097.1_Silent_p.T211T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	211	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTCGAGGGACGCCAATAGGCA	0.557		NA							Prader-Willi syndrome				False	0	False	15:25223413	0
DOPEY2	9980	broad.mit.edu	37	21	37609569	37609569	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:37609569C>T	ENST00000399151.3	+	16	2717	c.2632C>T	c.(2632-2634)Cgt>Tgt	p.R878C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	878					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGGGTGGCTCGTGTGCTTTG	0.587		NA											False	0	False	21:37609569	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971111	0
XYLT1	64131	broad.mit.edu	37	16	17235134	17235134	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:17235134G>A	ENST00000261381.6	-	7	1547	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	488					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCATCCACGGCAATGCCCTC	0.577		NA											False	0	False	16:17235134	0
ANK1	286	broad.mit.edu	37	8	41572577	41572577	+	Silent	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:41572577G>A	ENST00000396942.1	-	15	1701	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L	ANK1_ENST00000289734.7_Silent_p.L540L|ANK1_ENST00000352337.4_Silent_p.L540L|ANK1_ENST00000396945.1_Silent_p.L540L|ANK1_ENST00000265709.8_Silent_p.L573L|ANK1_ENST00000379758.2_Silent_p.L540L|ANK1_ENST00000347528.4_Silent_p.L540L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	540	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCACGTGCAGAGGGGTAAAT	0.622		NA											False	0	False	8:41572577	0
NCBP2	22916	broad.mit.edu	37	3	196664485	196664485	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:196664485G>A	ENST00000447325.1	-	3	434	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	NCBP2_ENST00000452404.2_Missense_Mutation_p.R81W|NCBP2_ENST00000321256.5_Missense_Mutation_p.R99W|NCBP2_ENST00000422610.1_Missense_Mutation_p.R29W|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Missense_Mutation_p.R46W			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	99					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	p.R99W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTTATGTACCGCATGGCGTTT	0.488		NA											False	0	False	3:196664485	0
SPOCK1	6695	broad.mit.edu	37	5	136315143	136315143	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:136315143C>T	ENST00000394945.1	-	10	1176	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	SPOCK1_ENST00000282223.7_Missense_Mutation_p.R336Q|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	336	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCATTACACCGAGGTATGAA	0.542		NA											False	0	False	5:136315143	0
OR5M11	219487	broad.mit.edu	37	11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502		NA											False	0	False	11:56310189	0
ANKS1B	56899	broad.mit.edu	37	12	99898356	99898356	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:99898356A>T	ENST00000547776.2	-	10	1335	c.1336T>A	c.(1336-1338)Ttt>Att	p.F446I	ANKS1B_ENST00000547010.1_Missense_Mutation_p.F26I|ANKS1B_ENST00000329257.7_Missense_Mutation_p.F446I	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	446						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTGAAGGAAATGTATCCAGA	0.383		NA											False	0	True	12:99898356	0
KIF1B	23095	broad.mit.edu	37	1	10384048	10384048	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:10384048G>A	ENST00000377086.1	+	25	2667	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R776H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R822H			O60333	KIF1B_HUMAN	kinesin family member 1B	822					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTTCCCTCGCACAGTGGTA	0.443		NA											False	0	False	1:10384048	0
FAM208B	54906	broad.mit.edu	37	10	5789782	5789782	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:5789782C>A	ENST00000328090.5	+	15	5023	c.4398C>A	c.(4396-4398)aaC>aaA	p.N1466K		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1466											NA						GGCAAGATAACTTTACCCAGG	0.423		NA											False	0	True	10:5789782	0
KIAA1377	57562	broad.mit.edu	37	11	101834466	101834466	+	Silent	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:101834466G>A	ENST00000263468.8	+	6	2970	c.2700G>A	c.(2698-2700)cgG>cgA	p.R900R	KIAA1377_ENST00000537689.1_Silent_p.R701R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	900							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGTTGCCCGGCAAGATGCGA	0.413		NA											False	0	False	11:101834466	0
RND1	27289	broad.mit.edu	37	12	49254866	49254866	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:49254866T>A	ENST00000309739.5	-	4	497	c.367A>T	c.(367-369)Att>Ttt	p.I123F		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	123					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TTGCAGCCAATGAGCAAAACG	0.552		NA											False	0	False	12:49254866	0
PTK6	5753	broad.mit.edu	37	20	62166328	62166328	+	Silent	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr20:62166328C>T	ENST00000217185.2	-	2	342	c.315G>A	c.(313-315)agG>agA	p.R105R	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	105	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TCTCGCTGACCCTGATCAGGA	0.692		NA											False	0	True	20:62166328	0
OBSCN	84033	broad.mit.edu	37	1	228451984	228451984	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:228451984G>A	ENST00000570156.2	+	18	5379	c.5305G>A	c.(5305-5307)Gtg>Atg	p.V1769M	OBSCN_ENST00000422127.1_Missense_Mutation_p.V1585M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1585M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V241M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	757	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AATGGAGGCCGTGGGCTGCAC	0.662		NA											False	0	False	1:228451984	0
AHNAK2	113146	broad.mit.edu	37	14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCCAGCCGCACACTGTCC	0.622		NA											False	0	False	14:105416378	0
OR7D2	162998	broad.mit.edu	37	19	9296821	9296821	+	Missense_Mutation	SNP	C	C	T	rs150499443		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:9296821C>T	ENST00000344248.2	+	1	543	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GGCCTATGACCGGTTTGTGGC	0.507		NA											False	0	False	19:9296821	0
POU4F3	5459	broad.mit.edu	37	5	145719822	145719822	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:145719822C>T	ENST00000230732.4	+	2	921	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	278					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCGCAAACGCACGTCCAT	0.612		NA											False	0	True	5:145719822	0
MAGEE2	139599	broad.mit.edu	37	X	75004114	75004114	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:75004114T>C	ENST00000373359.2	-	1	965	c.773A>G	c.(772-774)cAc>cGc	p.H258R		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	258	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATTTCCCTGTGGGCTCTAGA	0.498		NA											False	0	True	X:75004114	0
ABRA	137735	broad.mit.edu	37	8	107782214	107782214	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:107782214G>A	ENST00000311955.3	-	1	259	c.205C>T	c.(205-207)Cct>Tct	p.P69S		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	69					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGTGAAGTAGGGGGTGTGATT	0.592		NA											False	0	True	8:107782214	0
ZNF780B	163131	broad.mit.edu	37	19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388		NA											False	0	True	19:40541025	0
U2SURP	23350	broad.mit.edu	37	3	142741710	142741710	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:142741710C>T	ENST00000473835.2	+	12	1124	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	U2SURP_ENST00000493598.2_Missense_Mutation_p.S344F|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	345	RRM.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATGATTATGTCTTTTGAAATG	0.353		NA											False	0	True	3:142741710	0
SMC2	10592	broad.mit.edu	37	9	106864325	106864325	+	Silent	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:106864325C>T	ENST00000286398.7	+	8	1009	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SMC2_ENST00000303219.8_Silent_p.L241L|SMC2_ENST00000374793.3_Silent_p.L241L|SMC2_ENST00000374787.3_Silent_p.L241L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	241					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TCAGTTTTTGCTGGCTGAAGA	0.333		NA											False	0	True	9:106864325	0
ELP4	26610	broad.mit.edu	37	11	31541617	31541617	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:31541617G>A	ENST00000395934.2	+	2	245	c.238G>A	c.(238-240)Gtt>Att	p.V80I	ELP4_ENST00000379163.5_Missense_Mutation_p.V80I|ELP4_ENST00000350638.5_Missense_Mutation_p.V80I			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	80					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGGTTTAGCCGTTGGAACAGT	0.348		NA											False	0	False	11:31541617	0
TIAM1	7074	broad.mit.edu	37	21	32502539	32502539	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:32502539G>A	ENST00000286827.3	-	26	4508	c.4037C>T	c.(4036-4038)gCg>gTg	p.A1346V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A1286V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1346	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACCTGCACTCGCCAAAGCTCG	0.473		NA											False	0	False	21:32502539	0
KLK13	26085	broad.mit.edu	37	19	51561829	51561829	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:51561829G>A	ENST00000595793.1	-	4	653	c.611C>T	c.(610-612)gCc>gTc	p.A204V	KLK13_ENST00000335422.3_Missense_Mutation_p.A52V|KLK13_ENST00000595547.1_Missense_Mutation_p.A131V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	204	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTTGTGCCGGCACACAACAT	0.512		NA											False	0	True	19:51561829	0
SLC14A2	8170	broad.mit.edu	37	18	43248375	43248375	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr18:43248375G>A	ENST00000255226.6	+	15	2785	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M	SLC14A2_ENST00000586448.1_Missense_Mutation_p.V657M|SLC14A2_ENST00000589658.1_Missense_Mutation_p.V134M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	657						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGATGGCCGTGTTCTCAGA	0.557		NA											False	0	False	18:43248375	0
IMPDH2	3615	broad.mit.edu	37	3	49062645	49062645	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:49062645C>T	ENST00000326739.4	-	10	1103	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	355					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	ACCAAAGCGCCGTGCATACTC	0.562		NA											False	0	False	3:49062645	0
HIF3A	64344	broad.mit.edu	37	19	46834437	46834437	+	Silent	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:46834437C>T	ENST00000339613.2	+	13	1824	c.1569C>T	c.(1567-1569)gaC>gaT	p.D523D	HIF3A_ENST00000600383.1_Silent_p.D510D|HIF3A_ENST00000300862.3_Silent_p.D577D|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.D510D|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Silent_p.D528D|HIF3A_ENST00000377670.4_Silent_p.D579D			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	579	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.D577D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTCAGAGGACGAGGACGAGG	0.552		NA											False	0	True	19:46834437	0
VDAC1	7416	broad.mit.edu	37	5	133316519	133316519	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:133316519G>A	ENST00000265333.3	-	6	696	c.452C>T	c.(451-453)gCc>gTc	p.A151V	VDAC1_ENST00000395044.3_Missense_Mutation_p.A151V|VDAC1_ENST00000395047.2_Missense_Mutation_p.A151V	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	151					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CTGGTAGCCGGCCAGCCAGCC	0.527		NA											False	0	True	5:133316519	0
TEX14	56155	broad.mit.edu	37	17	56659016	56659016	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr17:56659016C>G	ENST00000389934.3	-	20	3364	c.3247G>C	c.(3247-3249)Gaa>Caa	p.E1083Q	TEX14_ENST00000240361.8_Missense_Mutation_p.E1089Q|TEX14_ENST00000349033.5_Intron	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1089						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAAAAATATTCACCGTCTGGA	0.368		NA											False	0	False	17:56659016	0
DAND5	199699	broad.mit.edu	37	19	13084387	13084387	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:13084387G>A	ENST00000317060.2	+	2	688	c.509G>A	c.(508-510)cGt>cAt	p.R170H	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	170	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			TCAGCCTCCCGTCGACGGGTG	0.602		NA											False	0	True	19:13084387	0
LTB4R	1241	broad.mit.edu	37	14	24784967	24784967	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:24784967G>C	ENST00000396789.4	+	2	1835	c.110G>C	c.(109-111)aGc>aCc	p.S37T	LTB4R_ENST00000396782.2_Missense_Mutation_p.S37T|LTB4R_ENST00000345363.3_Missense_Mutation_p.S37T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CCCGGCAACAGCTTTGTGGTG	0.577		NA											False	0	False	14:24784967	0
FBXL5	26234	broad.mit.edu	37	4	15628553	15628553	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr4:15628553G>T	ENST00000341285.3	-	8	1191	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H	FBXL5_ENST00000382358.4_Missense_Mutation_p.P230H|FBXL5_ENST00000412094.2_Missense_Mutation_p.P339H	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	356					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTCCAGGTTAGGACAAAGCTC	0.328		NA											False	0	False	4:15628553	0
BCAT2	587	broad.mit.edu	37	19	49300574	49300574	+	Missense_Mutation	SNP	C	C	T	rs139881168		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:49300574C>T	ENST00000402551.1	-	8	1212	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	BCAT2_ENST00000597011.1_Missense_Mutation_p.V198M|BCAT2_ENST00000598162.1_Missense_Mutation_p.V238M|BCAT2_ENST00000599246.1_Missense_Mutation_p.V146M|BCAT2_ENST00000545387.2_Missense_Mutation_p.V146M|BCAT2_ENST00000316273.6_Missense_Mutation_p.V238M	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	238						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TGCACTAACACGGTGGGCCCA	0.617		NA											False	0	False	19:49300574	0
COL22A1	169044	broad.mit.edu	37	8	139820045	139820045	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:139820045C>T	ENST00000303045.6	-	10	1906	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G487E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	487	Collagen-like 1.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCAGCAACTCCCATTTCACC	0.443		NA								HNSCC(7;0.00092)			False	0	True	8:139820045	0
ABCC1	4363	broad.mit.edu	37	16	16150130	16150130	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:16150130C>T	ENST00000399408.2	+	12	1830	c.1655C>T	c.(1654-1656)aCc>aTc	p.T552I	ABCC1_ENST00000346370.5_Missense_Mutation_p.T552I|ABCC1_ENST00000349029.5_Missense_Mutation_p.T552I|ABCC1_ENST00000351154.5_Missense_Mutation_p.T552I|ABCC1_ENST00000345148.5_Missense_Mutation_p.T552I|ABCC1_ENST00000399410.3_Missense_Mutation_p.T552I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	552	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCACCTTCACCTGGGTCTGC	0.517		NA											False	0	False	16:16150130	0
INPP5F	22876	broad.mit.edu	37	10	121541192	121541192	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:121541192G>A	ENST00000361976.2	+	3	390	c.224G>A	c.(223-225)gGc>gAc	p.G75D	INPP5F_ENST00000369083.3_Missense_Mutation_p.G75D|INPP5F_ENST00000369081.1_5'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	75							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GCATTGGTGGGCAAACTCCCA	0.438		NA											False	0	True	10:121541192	0
FLG	2312	broad.mit.edu	37	1	152286796	152286796	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:152286796T>A	ENST00000368799.1	-	3	601	c.566A>T	c.(565-567)gAa>gTa	p.E189V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	189					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTAGTATTTTCAGTCTTGTT	0.308		NA							Ichthyosis				False	0	True	1:152286796	0
ZNF280A	129025	broad.mit.edu	37	22	22869193	22869193	+	Silent	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr22:22869193G>A	ENST00000302097.3	-	2	1014	c.762C>T	c.(760-762)gaC>gaT	p.D254D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACTTGAAATGTCTGTCATTG	0.408		NA											False	0	True	22:22869193	0
TP53	7157	broad.mit.edu	37	17	7579575	7579575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr17:7579575G>A	ENST00000420246.2	-	4	244	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	38	Interaction with HRMT1L2.|Transcription activation (acidic).				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.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(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)		TCCATTGCTTGGGACGGCAAG	0.592		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	17:7579575	0
ITGAX	3687	broad.mit.edu	37	16	31391078	31391078	+	Splice_Site	SNP	G	G	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:31391078G>T	ENST00000268296.4	+	25	2990	c.2869G>T	c.(2869-2871)Gtc>Ttc	p.V957F	ITGAX_ENST00000562522.1_Splice_Site_p.V957F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	957					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCTGTGCAGGTCAATAACCT	0.627		NA											False	0	False	16:31391078	0
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	647						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602		NA											False	0	False	1:226037743	0
PCDHA7	0	broad.mit.edu	37	5	140216036	140216036	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:140216036G>A	ENST00000525929.1	+	1	2068	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E690K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1				NA										NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGCCCAGAGACCGAGCT	0.637		NA											False	0	False	5:140216036	0
BCLAF1	9774	broad.mit.edu	37	6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr6:136599814G>A	ENST00000531224.1	-	4	457	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433		NA											False	0	False	6:136599814	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
C10orf71	118461	broad.mit.edu	37	10	50532475	50532475	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:50532475G>A	ENST00000374144.3	+	3	2173	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	C10orf71_ENST00000323868.4_Missense_Mutation_p.G629R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	629								p.G629*(1)		endometrium(1)	1						GGGTCCTGCCGGATCCAGCTG	0.567		NA											False	0	False	10:50532475	0
MARK2	2011	broad.mit.edu	37	11	63669692	63669692	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:63669692T>C	ENST00000402010.2	+	12	1703	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P	MARK2_ENST00000377810.3_Missense_Mutation_p.L342P|MARK2_ENST00000502399.3_Missense_Mutation_p.L375P|MARK2_ENST00000350490.7_Missense_Mutation_p.L375P|MARK2_ENST00000315032.8_Missense_Mutation_p.L375P|MARK2_ENST00000509502.2_Missense_Mutation_p.L342P|MARK2_ENST00000513765.2_Missense_Mutation_p.L342P|MARK2_ENST00000413835.2_Missense_Mutation_p.L375P|MARK2_ENST00000425897.2_Missense_Mutation_p.L342P|MARK2_ENST00000408948.3_Missense_Mutation_p.L342P|MARK2_ENST00000361128.5_Missense_Mutation_p.L375P|MARK2_ENST00000377809.4_Missense_Mutation_p.L375P|MARK2_ENST00000508192.1_Missense_Mutation_p.L375P	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	375					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ACCATCACCCTGAAACCCCGG	0.552		NA									OREG0021038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:63669692	0
IFRD2	7866	broad.mit.edu	37	3	50330022	50330022	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:50330022C>T	ENST00000336089.4	-	2	282	c.283G>A	c.(283-285)Gct>Act	p.A95T	IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	100							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCCCACCAGCCGACGACGCG	0.657		NA											False	0	False	3:50330022	0
RGPD2	729857	broad.mit.edu	37	2	88125207	88125207	+	Silent	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr2:88125207C>T	ENST00000398146.3	-	1	264	c.42G>A	c.(40-42)tcG>tcA	p.S14S	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 2	0					intracellular transport		binding			breast(1)|pancreas(1)	2						AGCCCTGCACCGAGGCGAGGT	0.721		NA											False	0	True	2:88125207	0
GPR123	84435	broad.mit.edu	37	10	134896361	134896361	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:134896361C>T	ENST00000607359.1	+	7	1373	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	211						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGGCCCTGTGCGGTGAGGCCT	0.662		NA											False	0	False	10:134896361	0
DMKN	93099	broad.mit.edu	37	19	36004243	36004243	+	Silent	SNP	G	G	A	rs113646456		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:36004243G>A	ENST00000339686.3	-	1	311	c.135C>T	c.(133-135)gaC>gaT	p.D45D	DMKN_ENST00000424570.2_Silent_p.D45D|DMKN_ENST00000440396.1_Silent_p.D45D|DMKN_ENST00000451297.2_Silent_p.D45D|DMKN_ENST00000429837.1_Silent_p.D45D|DMKN_ENST00000419602.1_Silent_p.D45D|DMKN_ENST00000447113.2_Silent_p.D45D|DMKN_ENST00000418261.1_Silent_p.D45D	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	45	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGCTCAGGGCGTCTCCCAGGC	0.642		NA											False	0	False	19:36004243	0
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	False	10:43622039	0
TMC7	79905	broad.mit.edu	37	16	19067891	19067891	+	Silent	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:19067891G>A	ENST00000421369.3	+	14	2127	c.1569G>A	c.(1567-1569)ccG>ccA	p.P523P	TMC7_ENST00000304381.5_Silent_p.P633P|TMC7_ENST00000569532.1_Silent_p.P633P	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	633						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCTGTGGGCCGTTCACCAACT	0.602		NA											False	0	False	16:19067891	0
FBN3	84467	broad.mit.edu	37	19	8155007	8155007	+	Missense_Mutation	SNP	C	C	T	rs149936210		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:8155007C>T	ENST00000600128.1	-	49	6574	c.6160G>A	c.(6160-6162)Gaa>Aaa	p.E2054K	FBN3_ENST00000270509.2_Missense_Mutation_p.E2054K|FBN3_ENST00000601739.1_Missense_Mutation_p.E2054K			Q75N90	FBN3_HUMAN	fibrillin 3	2054	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGACACAGTTCGCAGGGGTCT	0.612		NA											False	0	False	19:8155007	0
ITPR1	3708	broad.mit.edu	37	3	4735249	4735249	+	Missense_Mutation	SNP	C	C	T	rs61757109		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:4735249C>T	ENST00000354582.6	+	33	4455	c.4105C>T	c.(4105-4107)Cgg>Tgg	p.R1369W	ITPR1_ENST00000357086.4_Missense_Mutation_p.R1360W|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1345W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1354W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1360W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1354W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1369					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.R1345W(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCAGATGATGCGGTCAGAACG	0.517		NA											False	0	False	3:4735249	0
GTF3C5	9328	broad.mit.edu	37	9	135917536	135917536	+	Silent	SNP	C	C	T			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:135917536C>T	ENST00000372097.5	+	2	539	c.216C>T	c.(214-216)caC>caT	p.H72H	GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372108.5_Silent_p.H72H|GTF3C5_ENST00000342018.8_Silent_p.H72H|GTF3C5_ENST00000372099.6_Silent_p.H63H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	72						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CATACTGCCACCCAGTGTGCG	0.612		NA											False	0	True	9:135917536	0
PRMT5	10419	broad.mit.edu	37	14	23398431	23398431	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:23398431G>A	ENST00000397441.2	-	1	179	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.R2W|PRMT5_ENST00000397440.4_Missense_Mutation_p.R2W|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000553641.1_5'UTR	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	0					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCGGACCCCGCATTCCGCTC	0.627		NA											False	0	True	14:23398431	0
