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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MFSD6	54842	broad.mit.edu	37	2	191354580	191354580	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:191354580G>C	ENST00000392328.1	+	6	2203	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	627					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGCAGTGCCAGATGAGGAAGA	0.478													3	55	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52412685	52412685	+	Silent	SNP	C	C	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:52412685C>A	ENST00000420323.2	+	47	7527	c.7266C>A	c.(7264-7266)acC>acA	p.T2422T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2422	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATGCAACCATCACCTCCC	0.602													74	194	---	---	---	---
HNRNPA0	10949	broad.mit.edu	37	5	137089391	137089391	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:137089391C>A	ENST00000314940.4	-	1	648	c.365G>T	c.(364-366)gGc>gTc	p.G122V		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	122	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCACGGTGCCAAACTGCGA	0.587													3	82	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150947501	150947501	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:150947501A>C	ENST00000261800.5	-	1	1004	c.992T>G	c.(991-993)cTc>cGc	p.L331R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	331					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGGCTGAGGTTGAACCC	0.493													5	230	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160114977	160114977	+	Silent	SNP	T	T	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:160114977T>C	ENST00000327245.5	-	5	951	c.105A>G	c.(103-105)aaA>aaG	p.K35K	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	35					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTCTCCCTTTCTCTGGAG	0.552													3	158	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176720972	176720972	+	Silent	SNP	T	T	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:176720972T>A	ENST00000439151.2	+	23	6648	c.6603T>A	c.(6601-6603)tcT>tcA	p.S2201S	NSD1_ENST00000347982.4_Silent_p.S1932S|NSD1_ENST00000354179.4_Silent_p.S1932S|NSD1_ENST00000361032.4_Silent_p.S2098S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2201					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCGTCTGTCTTGTACTGAGC	0.567			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			35	51	---	---	---	---
HIST1H2AG	8969	broad.mit.edu	37	6	27101129	27101129	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:27101129G>A	ENST00000359193.2	+	1	298	c.279G>A	c.(277-279)gaG>gaA	p.E93E		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	93					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACGACGAGGAGCTCAACAAGC	0.617													4	204	---	---	---	---
WBSCR22	114049	broad.mit.edu	37	7	73112192	73112192	+	Silent	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:73112192C>G	ENST00000265758.2	+	12	880	c.822C>G	c.(820-822)ggC>ggG	p.G274G	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Silent_p.G291G	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	274						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGTACACCGGCCGCAAGCGCA	0.478													10	53	---	---	---	---
MOSPD3	64598	broad.mit.edu	37	7	100210601	100210601	+	Missense_Mutation	SNP	A	A	T	rs143182268		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:100210601A>T	ENST00000393950.2	+	1	469	c.187A>T	c.(187-189)Act>Tct	p.T63S	MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	63	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCACAGGAACTGCGCTTCG	0.637													43	130	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104165237	104165237	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr10:104165237A>G	ENST00000020673.5	-	12	2718	c.2192T>C	c.(2191-2193)gTc>gCc	p.V731A	PSD_ENST00000406432.1_Missense_Mutation_p.V731A	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	731					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGCTTGATGACCTTGGGGTT	0.662													29	45	---	---	---	---
TEAD1	7003	broad.mit.edu	37	11	12946524	12946524	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:12946524G>T	ENST00000361905.4	+	11	1559	c.894G>T	c.(892-894)gaG>gaT	p.E298D	TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000526600.1_Missense_Mutation_p.E217D|TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	313	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTCAGTACGAGAGTTCTGAAA	0.418													13	89	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65271006	65271006	+	RNA	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:65271006C>G	ENST00000534336.1	+	0	5774					NR_002819.2																						CTGTTAGAATCAGATGTTACT	0.303													10	80	---	---	---	---
ATM	472	broad.mit.edu	37	11	108218046	108218046	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:108218046T>A	ENST00000278616.4	+	59	9010	c.8625T>A	c.(8623-8625)aaT>aaA	p.N2875K	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.N2875K|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2875	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGTACAGAATATCTTGATAA	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			21	60	---	---	---	---
GOLGA2P5	55592	broad.mit.edu	37	12	100551034	100551034	+	RNA	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:100551034C>G	ENST00000397112.4	-	0	1893				AC010203.1_ENST00000408843.1_RNA	NR_036632.1															large_intestine(1)|lung(3)	4						GATGTACTCTCCTGCAGGAGG	0.622													36	64	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102470594	102470594	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:102470594C>G	ENST00000552283.1	-	8	893	c.754G>C	c.(754-756)Gat>Cat	p.D252H	NUP37_ENST00000251074.1_Missense_Mutation_p.D252H			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	252					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CAGGCTCGATCCATGTGAACA	0.363													6	27	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109519153	109519153	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:109519153T>G	ENST00000257548.5	+	8	828	c.735T>G	c.(733-735)ttT>ttG	p.F245L	USP30_ENST00000392784.2_Missense_Mutation_p.F214L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	245					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTGTTCGATTTGATACCTTTG	0.353													33	75	---	---	---	---
SMAD9	4093	broad.mit.edu	37	13	37427659	37427659	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:37427659T>C	ENST00000379826.4	-	6	1499	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S|SMAD9_ENST00000399275.2_Missense_Mutation_p.N386S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	386	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCTGGTTGTTGAAGACCTT	0.532													7	44	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562		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)			21	26	---	---	---	---
WSB1	26118	broad.mit.edu	37	17	25639358	25639358	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:25639358C>T	ENST00000262394.2	+	9	1545	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	WSB1_ENST00000348811.2_Missense_Mutation_p.P264L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	410	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGCCGATTCCTTCCAAGCTT	0.473													5	271	---	---	---	---
PSME3	10197	broad.mit.edu	37	17	40986805	40986805	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:40986805T>G	ENST00000293362.3	+	4	316	c.155T>G	c.(154-156)aTc>aGc	p.I52S	PSME3_ENST00000590720.1_Missense_Mutation_p.I52S|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S|PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCTTAAACATCCATGACCTA	0.418													25	82	---	---	---	---
TMC8	147138	broad.mit.edu	37	17	76128481	76128481	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:76128481C>G	ENST00000318430.5	+	4	714	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	114						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CACCTTCCTCCGCTTCCTGCT	0.687													11	32	---	---	---	---
SOGA2	23255	broad.mit.edu	37	18	8824763	8824763	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:8824763G>A	ENST00000359865.3	+	15	3397	c.3255G>A	c.(3253-3255)gaG>gaA	p.E1085E	SOGA2_ENST00000518815.1_Silent_p.E410E|SOGA2_ENST00000306329.11_Silent_p.E1404E|SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000517570.1_Silent_p.E1044E	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1395																	TCCTGCCTGAGAAGGGCCTGC	0.572													23	57	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179168	65179168	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:65179168G>T	ENST00000310045.7	-	2	4181	c.2708C>A	c.(2707-2709)aCt>aAt	p.T903N	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	893						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCCAACTCAGTTTCAGGAAT	0.418													15	48	---	---	---	---
FEM1A	55527	broad.mit.edu	37	19	4792557	4792557	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:4792557G>A	ENST00000269856.3	+	1	830	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	231					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACCAACATCGTGGAGTACCT	0.687													3	88	---	---	---	---
ZNF549	256051	broad.mit.edu	37	19	58050081	58050081	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:58050081C>T	ENST00000376233.3	+	4	1890	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACACCGCACCAGCCTCATT	0.453													8	43	---	---	---	---
