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
GPSM2	29899	broad.mit.edu	37	1	109465166	109465168	+	In_Frame_Del	DEL	CTT	CTT	-	rs79761186		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:109465166_109465168delCTT	ENST00000406462.1	+	14	2341_2343	c.1568_1570delCTT	c.(1567-1572)acttct>act	p.S525del	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_In_Frame_Del_p.S525del			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	525					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAACAACTTCTTCCACTCC	0.374		NA											False	2	True	1:109465166	0
PPFIBP2	8495	broad.mit.edu	37	11	7661048	7661050	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:7661048_7661050delCTC	ENST00000530181.1	+	11	1114_1116	c.893_895delCTC	c.(892-897)tctcct>tct	p.P300del	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000299492.4_In_Frame_Del_p.P443del|PPFIBP2_ENST00000528883.1_In_Frame_Del_p.P331del|PPFIBP2_ENST00000533792.1_In_Frame_Del_p.P285del	NM_001256569.1	NP_001243498.1	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	443					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	p.P442S(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTGCCAAATCTCCTCCCACCAT	0.596		NA											False	2	False	11:7661048	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000396053.4_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
NUFIP1	26747	broad.mit.edu	37	13	45523975	45523984	+	Splice_Site	DEL	TGAAGGGAAA	TGAAGGGAAA	-	rs77897726		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	TGAAGGGAAA	TGAAGGGAAA	-	-	TGAAGGGAAA	TGAAGGGAAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr13:45523975_45523984delTGAAGGGAAA	ENST00000379161.4	-	8	1068		c.e8-2			NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	NA					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TATCAGACTCTGAAGGGAAAAGAAGTCAGA	0.405		NA											False	1	True	13:45523975	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	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
MIR659	0	broad.mit.edu	37	22	38243711	38243757	+	RNA	DEL	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	-	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	ENST00000384963.1	-	0	24_70					NR_030396.1					NA											NA						ggggaccctccctgaaccaaggaagagacTGTGACTCTTCCTTGGTTCAGGGAAGGTCCTGAACCAA	0.421		NA											False	1	False	22:38243711	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	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
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
ARMC2	84071	broad.mit.edu	37	6	109197507	109197508	+	In_Frame_Ins	INS	-	-	ATATTT			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:109197507_109197508insATATTT	ENST00000392644.4	+	5	793_794	c.625_626insATATTT	c.(625-627)atg>aATATTTtg	p.209_209M>NIL	ARMC2_ENST00000368972.3_In_Frame_Ins_p.44_44M>NIL	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	209							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GGAGCAAGAAATGTTCAAAGGA	0.351		NA											False	0	True	6:109197507	0
ARMC2	84071	broad.mit.edu	37	6	109197509	109197510	+	Frame_Shift_Ins	INS	-	-	TTGAAGTA			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:109197509_109197510insTTGAAGTA	ENST00000392644.4	+	5	795_796	c.627_628insTTGAAGTA	c.(628-630)ttcfs	p.F210fs	ARMC2_ENST00000368972.3_Frame_Shift_Ins_p.F45fs	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	210							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGCAAGAAATGTTCAAAGGAAC	0.347		NA											False	0	False	6:109197509	0
ZMIZ2	83637	broad.mit.edu	37	7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	rs142075074	by1000genomes	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678		NA											False	1	False	7:44797065	0
COBL	23242	broad.mit.edu	37	7	51098568	51098570	+	In_Frame_Del	DEL	TCT	TCT	-	rs74996531		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr7:51098568_51098570delTCT	ENST00000265136.7	-	9	1608_1610	c.1443_1445delAGA	c.(1441-1446)gaagac>gac	p.E481del	COBL_ENST00000395542.2_In_Frame_Del_p.E563del	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	481				Missing (in Ref. 5; AAH29275).						NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATTAATAGGTCTTCTTCATCAT	0.409		NA											False	2	False	7:51098568	0
CDKN2A	1029	broad.mit.edu	37	9	21971063	21971068	+	In_Frame_Del	DEL	GGTGCA	GGTGCA	-	rs34886500		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	GGTGCA	GGTGCA	-	-	GGTGCA	GGTGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:21971063_21971068delGGTGCA	ENST00000479692.2	-	2	151_156	c.137_142delTGCACC	c.(136-144)ctgcaccgg>cgg	p.LH46del	CDKN2A_ENST00000361570.3_In_Frame_Del_p.AP153del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.LH46del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.AP112del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000579755.1_In_Frame_Del_p.AP112del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.LH46del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.LH97del			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	97					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.L97R(5)|p.L97P(4)|p.H98P(3)|p.H98R(2)|p.H83fs*2(2)|p.R99W(2)|p.H98Y(1)|p.A153A(1)|p.H98H(1)|p.0(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.R137fs*48(1)|p.A68fs*3(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)		GCCCCGGCCCGGTGCAGCACCACCAG	0.748		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21971063	0
PCSK5	5125	broad.mit.edu	37	9	78790149	78790153	+	Frame_Shift_Del	DEL	AATGA	AATGA	-	rs4281168		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	AATGA	AATGA	-	-	AATGA	AATGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:78790149_78790153delAATGA	ENST00000376767.3	+	14	2516_2520	c.2004_2008delAATGA	c.(2002-2010)ggaatgaaafs	p.MK669fs	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aatggaatggaatgaaatggaatgg	0.41		NA											False	1	True	9:78790149	0
KCNA6	3742	broad.mit.edu	37	12	4920057	4920057	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:4920057G>A	ENST00000433855.1	+	1	1716	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	KCNA6_ENST00000280684.3_Missense_Mutation_p.A284T	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	284						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCGCTTCTCCGCCTGCCCTAG	0.542		NA								HNSCC(72;0.22)			False	0	False	12:4920057	0
ATXN2L	11273	broad.mit.edu	37	16	28841310	28841310	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr16:28841310C>T	ENST00000336783.4	+	8	1132	c.965C>T	c.(964-966)aCt>aTt	p.T322I	ATXN2L_ENST00000325215.6_Missense_Mutation_p.T322I|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T322I|ATXN2L_ENST00000395547.2_Missense_Mutation_p.T322I|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T322I	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	322						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GATGGGCGCACTGAAGAGGAG	0.612		NA											False	0	False	16:28841310	0
TMEM132D	121256	broad.mit.edu	37	12	130184677	130184677	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:130184677C>T	ENST00000422113.2	-	2	972	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	216						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCTGGTCCACGGACTTCCTC	0.692		NA											False	0	False	12:130184677	0
QSER1	79832	broad.mit.edu	37	11	32955744	32955744	+	Silent	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:32955744A>G	ENST00000399302.2	+	4	2888	c.2553A>G	c.(2551-2553)gtA>gtG	p.V851V	QSER1_ENST00000527788.1_Silent_p.V612V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	851										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)					TATCAAATGTAGATGATATCT	0.383		NA											False	0	False	11:32955744	0
PCDH15	65217	broad.mit.edu	37	10	55616938	55616938	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr10:55616938G>T	ENST00000373965.2	-	29	4218	c.3824C>A	c.(3823-3825)aCa>aAa	p.T1275K	PCDH15_ENST00000320301.6_Missense_Mutation_p.T1268K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1268K|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1197K|PCDH15_ENST00000409834.1_Missense_Mutation_p.T879K|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1246K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1273K|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1231K|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1275K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1268					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAATTACTCTGTAAGATCTTC	0.313		NA								HNSCC(58;0.16)			False	0	False	10:55616938	0
COL24A1	255631	broad.mit.edu	37	1	86497562	86497562	+	Splice_Site	SNP	C	C	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:86497562C>G	ENST00000370571.2	-	14	2414	c.2048G>C	c.(2047-2049)aGa>aCa	p.R683T	COL24A1_ENST00000436319.1_Splice_Site_p.R683T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	683	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GATACTCACTCTAAGCCCAGG	0.338		NA											False	0	True	1:86497562	0
COL4A5	1287	broad.mit.edu	37	X	107925082	107925082	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:107925082G>T	ENST00000328300.6	+	47	4424	c.4180G>T	c.(4180-4182)Ggt>Tgt	p.G1394C	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1388C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1388	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGCTAAAGGGTCTACCAGG	0.458		NA							Alport syndrome with Diffuse Leiomyomatosis				False	0	True	X:107925082	0
C1orf87	127795	broad.mit.edu	37	1	60491098	60491098	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:60491098C>G	ENST00000371201.3	-	8	1209	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	C1orf87_ENST00000450089.2_Missense_Mutation_p.D139H	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	368							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TAACCCAAATCTTGATGGTTA	0.363		NA											False	0	False	1:60491098	0
CD44	960	broad.mit.edu	37	11	35218359	35218359	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:35218359T>G	ENST00000428726.2	+	6	857	c.734T>G	c.(733-735)tTt>tGt	p.F245C	CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.F245C|CD44_ENST00000263398.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.F245C|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.F245C	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	245	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TGGGATTGGTTTTCATGGTTG	0.378		NA											False	0	True	11:35218359	0
POM121	9883	broad.mit.edu	37	7	72413745	72413745	+	Silent	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr7:72413745C>T	ENST00000395270.1	+	14	3459	c.2418C>T	c.(2416-2418)tcC>tcT	p.S806S	POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000358357.3_Silent_p.S806S|POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1071	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACCAGCTCCGGCTTTGGAG	0.657		NA											False	0	False	7:72413745	0
DLEC1	9940	broad.mit.edu	37	3	38087134	38087134	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:38087134T>C	ENST00000308059.6	+	2	533	c.512T>C	c.(511-513)aTg>aCg	p.M171T	DLEC1_ENST00000452631.2_Missense_Mutation_p.M171T|DLEC1_ENST00000346219.3_Missense_Mutation_p.M171T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	171					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGCGGGTCATGAGCCAGGCT	0.532		NA											False	0	False	3:38087134	0
SOX5	6660	broad.mit.edu	37	12	24048945	24048945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:24048945G>A	ENST00000546136.1	-	1	15	c.13C>T	c.(13-15)Cga>Tga	p.R5*	SOX5_ENST00000451604.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000541847.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.R18*|SOX5_ENST00000441133.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.R5*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	18					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGCTGGTCGCTTGGAAGAC	0.493		NA											False	0	False	12:24048945	0
TTN	7273	broad.mit.edu	37	2	179655562	179655562	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:179655562T>C	ENST00000589042.1	-	11	1897	c.1673A>G	c.(1672-1674)gAa>gGa	p.E558G	TTN_ENST00000360870.5_Missense_Mutation_p.E558G|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E558G|TTN_ENST00000342992.6_Missense_Mutation_p.E558G|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	558							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)			TATCTCAGTTTCCTGTCTTAT	0.393		NA											False	0	True	2:179655562	0
HERC2P3	0	broad.mit.edu	37	15	20644624	20644624	+	RNA	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:20644624G>T	ENST00000428453.1	-	0	3187										NA										central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGGAAGGGAGACGGCCACCC	0.637		NA											False	0	False	15:20644624	0
IGKV2D-24	0	broad.mit.edu	37	2	90044354	90044354	+	RNA	SNP	C	C	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:90044354C>A	ENST00000462693.1	+	0	305										NA											NA						GGCAGTGGGGCAGGGACAGAT	0.512		NA											False	0	True	2:90044354	0
TRIOBP	11078	broad.mit.edu	37	22	38119251	38119251	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:38119251G>A	ENST00000406386.3	+	7	943	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	230					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGAGAAAGCGGGTTGTCCCT	0.647		NA											False	0	True	22:38119251	0
ZNF74	7625	broad.mit.edu	37	22	20760941	20760941	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:20760941A>G	ENST00000400451.2	+	5	2132	c.1618A>G	c.(1618-1620)Aac>Gac	p.N540D	ZNF74_ENST00000356671.5_Missense_Mutation_p.N540D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.N508D|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	540					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTTCAGCCAGAACCACTGTCT	0.547		NA											False	0	False	22:20760941	0
GAK	2580	broad.mit.edu	37	4	864531	864531	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr4:864531C>T	ENST00000314167.4	-	19	2326	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	GAK_ENST00000511163.1_Missense_Mutation_p.R660Q|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	739					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCTCCTCCCGGCTGGAAAA	0.562		NA											False	0	True	4:864531	0
SATB1	6304	broad.mit.edu	37	3	18462359	18462359	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:18462359T>G	ENST00000338745.6	-	2	1835	c.101A>C	c.(100-102)gAg>gCg	p.E34A	SATB1_ENST00000454909.2_Missense_Mutation_p.E34A|SATB1_ENST00000417717.2_Missense_Mutation_p.E34A|SATB1_ENST00000493952.2_Missense_Mutation_p.E34A|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	34					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCGTTCTGCTCCAGGCGGGC	0.507		NA											False	0	False	3:18462359	0
USH2A	7399	broad.mit.edu	37	1	215960150	215960150	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:215960150C>T	ENST00000366943.2	-	52	10635	c.10249G>A	c.(10249-10251)Gac>Aac	p.D3417N	USH2A_ENST00000307340.3_Missense_Mutation_p.D3417N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3417	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTTGAAGTCACACCTGCCA	0.493		NA								HNSCC(13;0.011)			False	0	False	1:215960150	0
AQP7	364	broad.mit.edu	37	9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K|AQP7_ENST00000541274.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	175					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592		NA											False	0	False	9:33386077	0
ATP8A1	10396	broad.mit.edu	37	4	42580334	42580334	+	Silent	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr4:42580334G>A	ENST00000381668.5	-	12	1302	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	ATP8A1_ENST00000264449.10_Silent_p.I357I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	357					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCAATAAGCTGATAGGAATGA	0.348		NA											False	0	False	4:42580334	0
RPS6KA1	6195	broad.mit.edu	37	1	26872417	26872417	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:26872417G>A	ENST00000531382.1	+	1	75	c.26G>A	c.(25-27)cGt>cAt	p.R9H	RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000374166.4_Intron	NM_001006665.1	NP_001006666.1	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	0					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGCCGCCCCGTCTGCGGCTC	0.716		NA											False	0	True	1:26872417	0
KCNT1	57582	broad.mit.edu	37	9	138641963	138641963	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:138641963G>A	ENST00000298480.5	+	3	348	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	KCNT1_ENST00000263604.3_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	92						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGTTCTACGTCAACGAGAA	0.607		NA											False	0	False	9:138641963	0
BAI2	576	broad.mit.edu	37	1	32196436	32196436	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:32196436C>T	ENST00000373658.3	-	29	4686	c.4345G>A	c.(4345-4347)Gtg>Atg	p.V1449M	BAI2_ENST00000257070.4_Missense_Mutation_p.V1416M|BAI2_ENST00000440175.2_Missense_Mutation_p.V1058M|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.V1382M|BAI2_ENST00000527361.1_Missense_Mutation_p.V1416M|BAI2_ENST00000398556.3_Missense_Mutation_p.V1364M|BAI2_ENST00000373655.2_Missense_Mutation_p.V1449M|BAI2_ENST00000398538.1_Missense_Mutation_p.V1437M|BAI2_ENST00000398542.1_Missense_Mutation_p.V1349M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1449					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGCCGGGCACGGTGCGAGGC	0.647		NA											False	0	False	1:32196436	0
IFT122	55764	broad.mit.edu	37	3	129195581	129195581	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:129195581C>T	ENST00000296266.3	+	12	1429	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	IFT122_ENST00000349441.2_Missense_Mutation_p.R251C|IFT122_ENST00000431818.2_Missense_Mutation_p.R212C|IFT122_ENST00000507564.1_Missense_Mutation_p.R354C|IFT122_ENST00000440957.2_Missense_Mutation_p.R153C|IFT122_ENST00000504021.1_Missense_Mutation_p.R256C|IFT122_ENST00000347300.2_Missense_Mutation_p.R303C|IFT122_ENST00000348417.2_Missense_Mutation_p.R362C	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	362					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTACAAGGACCGCTATGCCTA	0.537		NA											False	0	False	3:129195581	0
MST1	4485	broad.mit.edu	37	3	49723069	49723069	+	Silent	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:49723069G>A	ENST00000449682.2	-	11	1708	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	435					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGTCCTTGGGTCCATCGTGT	0.612		NA											False	0	True	3:49723069	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7577121	0
TOX2	84969	broad.mit.edu	37	20	42635419	42635419	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr20:42635419G>T	ENST00000358131.5	+	3	633	c.425G>T	c.(424-426)gGc>gTc	p.G142V	TOX2_ENST00000423191.2_Missense_Mutation_p.G91V|TOX2_ENST00000341197.4_Missense_Mutation_p.G133V|TOX2_ENST00000372999.1_Missense_Mutation_p.G91V	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGTCGGGCCAGCTGCCC	0.587		NA											False	0	True	20:42635419	0
POTEC	388468	broad.mit.edu	37	18	14542998	14542998	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr18:14542998C>T	ENST00000358970.5	-	1	147	c.148G>A	c.(148-150)Gac>Aac	p.D50N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	50										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGGAGTCGTCGTGGTCTCCA	0.592		NA											False	0	False	18:14542998	0
CROCCP3	0	broad.mit.edu	37	1	16816215	16816215	+	RNA	SNP	C	C	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:16816215C>A	ENST00000263511.4	-	0	1155					NR_023386.1					NA											NA						TGACCAGCCGCCGGAACCCCA	0.582		NA											False	0	False	1:16816215	0
MST1R	4486	broad.mit.edu	37	3	49936017	49936017	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:49936017C>T	ENST00000296474.3	-	4	1680	c.1653G>A	c.(1651-1653)atG>atA	p.M551I	MST1R_ENST00000344206.4_Missense_Mutation_p.M551I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	551					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCTGGCCGCACATGTTCCCAC	0.602		NA											False	0	False	3:49936017	0
SPATA17	128153	broad.mit.edu	37	1	217947827	217947827	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:217947827G>A	ENST00000366933.4	+	7	726	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	224						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACAAGCGCCCGTTCTTTTCCT	0.403		NA											False	0	True	1:217947827	0
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000436847.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	NA					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697		NA											False	0	True	9:124062285	0
SPDYE3	441272	broad.mit.edu	37	7	99912180	99912180	+	Silent	SNP	G	G	A	rs858635		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr7:99912180G>A	ENST00000332397.6	+	6	1192	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	336								p.P336P(10)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCAGCCCCCCGCGTAGGTCCC	0.577		NA											False	0	True	7:99912180	0
SPANXD	64648	broad.mit.edu	37	X	140785784	140785784	+	Silent	SNP	T	T	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:140785784T>A	ENST00000370515.3	-	2	465	c.132A>T	c.(130-132)acA>acT	p.T44T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D	NA										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AGGACTCAGATGTTTTTAGTT	0.478		NA											False	0	False	X:140785784	0
ADAMTS7	11173	broad.mit.edu	37	15	79090455	79090455	+	Splice_Site	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:79090455T>C	ENST00000388820.4	-	3	667	c.457A>G	c.(457-459)Aaa>Gaa	p.K153E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	153					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AACACACCTTTCTGGGGAAGA	0.652		NA											False	0	True	15:79090455	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
CYB5R4	51167	broad.mit.edu	37	6	84649843	84649843	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:84649843C>T	ENST00000369681.5	+	13	1317	c.1177C>T	c.(1177-1179)Ctc>Ttc	p.L393F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	NA					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTAGAAGATCTCTTTTTGTT	0.348		NA											False	0	False	6:84649843	0
UNC50	25972	broad.mit.edu	37	2	99226308	99226308	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:99226308C>T	ENST00000409975.1	+	1	1267	c.137C>T	c.(136-138)gCg>gTg	p.A46V	UNC50_ENST00000409347.1_Missense_Mutation_p.A46V|UNC50_ENST00000357765.2_Missense_Mutation_p.A29V			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	29					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACAGCCGGAGCGAAACGCTAC	0.493		NA											False	0	False	2:99226308	0
NTRK3	4916	broad.mit.edu	37	15	88483870	88483870	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:88483870A>G	ENST00000394480.2	-	15	2021	c.1700T>C	c.(1699-1701)aTg>aCg	p.M567T	NTRK3_ENST00000558676.1_Missense_Mutation_p.M559T|NTRK3_ENST00000542733.2_Missense_Mutation_p.M469T|NTRK3_ENST00000557856.1_Missense_Mutation_p.M559T|NTRK3_ENST00000355254.2_Missense_Mutation_p.M567T|NTRK3_ENST00000357724.2_Missense_Mutation_p.M559T|NTRK3_ENST00000360948.2_Missense_Mutation_p.M567T	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	NA	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCACAAGCATCTTGTCCTT	0.592		NA	T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			False	0	False	15:88483870	0
CXorf57	55086	broad.mit.edu	37	X	105879775	105879775	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:105879775G>A	ENST00000372548.4	+	7	1415	c.1306G>A	c.(1306-1308)Gca>Aca	p.A436T	CXorf57_ENST00000372544.2_Missense_Mutation_p.A436T	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	436										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTCTAGTGGCATATTTTGT	0.343		NA											False	0	False	X:105879775	0
ZNF354A	6940	broad.mit.edu	37	5	178139093	178139093	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr5:178139093G>A	ENST00000335815.2	-	5	1983	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	596					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATTTTATAATGATTAGTAAGG	0.373		NA											False	0	False	5:178139093	0
MECP2	4204	broad.mit.edu	37	X	153296531	153296531	+	Missense_Mutation	SNP	G	G	A	rs61750225	byFrequency	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:153296531G>A	ENST00000303391.6	-	4	997	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	MECP2_ENST00000453960.2_Missense_Mutation_p.R262C|MECP2_ENST00000407218.1_3'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	250					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCGGGGCGTTTGATCACC	0.642		NA											False	0	True	X:153296531	0
COMMD4	54939	broad.mit.edu	37	15	75631625	75631625	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:75631625C>T	ENST00000267935.8	+	6	521	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	COMMD4_ENST00000564815.1_Missense_Mutation_p.R86C|COMMD4_ENST00000338995.6_Missense_Mutation_p.R108C|COMMD4_ENST00000562789.1_Missense_Mutation_p.R114C|COMMD4_ENST00000567195.1_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	108						cytoplasm	protein binding	p.R108C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCCTGTGCCGCTGTTATGA	0.612		NA											False	0	False	15:75631625	0
KLHL38	340359	broad.mit.edu	37	8	124664070	124664070	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr8:124664070C>T	ENST00000325995.7	-	1	1120	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	366										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CATGGGCTCCCCCAGCCTCCA	0.572		NA											False	0	True	8:124664070	0
TMEM198	130612	broad.mit.edu	37	2	220414568	220414568	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:220414568C>T	ENST00000344458.2	+	6	1660	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	TMEM198_ENST00000373883.3_Missense_Mutation_p.R359W			Q66K66	TM198_HUMAN	transmembrane protein 198	359						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCCCCAGTGCGGGTATAGCC	0.622		NA											False	0	True	2:220414568	0
