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	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF835	90485	broad.mit.edu	37	19	57176221	57176221	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:57176221C>T	ENST00000537055.2	-	2	577	c.346G>A	c.(346-348)Ggg>Agg	p.G116R		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCCTTCCCGCAGTCCCCG	0.637000													40	134					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72294536	72294536	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:72294536G>C	ENST00000263563.6	+	10	1432	c.1164G>C	c.(1162-1164)ctG>ctC	p.L388L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGCATGACCTGAAAGAAGTGG	0.577000													4	38					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197708751	197708751	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:197708751C>G	ENST00000354764.3	-	25	2500	c.2386G>C	c.(2386-2388)Gac>Cac	p.D796H		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	796					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATTGAGGAGTCTTTATGATGA	0.333000													11	59					0	0	1	0	0
CENPN	55839	broad.mit.edu	37	16	81053755	81053755	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:81053755T>C	ENST00000305850.5	+	6	1195	c.405T>C	c.(403-405)atT>atC	p.I135I	CMC2_ENST00000565914.1_Intron|CENPN_ENST00000439957.3_Silent_p.I115I|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000299572.5_Silent_p.I135I|CENPN_ENST00000428963.2_Silent_p.I135I|CENPN_ENST00000393335.3_Silent_p.I135I	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	135					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						GGATTCGAATTGCCTGGGGAA	0.428000													9	79					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96683014	96683014	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:96683014A>G	ENST00000261211.3	-	11	1652	c.1049T>C	c.(1048-1050)gTc>gCc	p.V350A	CDK17_ENST00000543119.2_Missense_Mutation_p.V350A|CDK17_ENST00000542666.1_Missense_Mutation_p.V297A	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	350	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CCATAGTGTGACAACTTCATT	0.413000													9	150					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21842252	21842252	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:21842252G>C	ENST00000434536.1	+	12	1502	c.1400G>C	c.(1399-1401)tGt>tCt	p.C467S	XPO7_ENST00000433566.4_Missense_Mutation_p.C459S|XPO7_ENST00000252512.9_Missense_Mutation_p.C458S			Q9UIA9	XPO7_HUMAN	exportin 7	458					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAGAAGACGTGTGCACTCCTC	0.577000													10	38					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329072	33329072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:33329072G>T	ENST00000374796.2	-	12	7558	c.4988C>A	c.(4987-4989)tCa>tAa	p.S1663*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.S1663*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1663	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TATTGAGGATGAATTGATAAA	0.488000													35	66					1.06647e-15	1.14265e-15	1	1	0
ALPPL2	251	broad.mit.edu	37	2	233271635	233271635	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:233271635G>C	ENST00000295453.3	+	1	83	c.31G>C	c.(31-33)Ggc>Cgc	p.G11R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	11					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTCCTGCTGGGCCTGAGGCT	0.647000													12	71					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62170909	62170909	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:62170909C>T	ENST00000261517.5	-	74	10112	c.10039G>A	c.(10039-10041)Gaa>Aaa	p.E3347K	VPS13C_ENST00000395898.3_Missense_Mutation_p.E3304K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E3304K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E3347K|VPS13C_ENST00000558919.1_5'UTR	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3347					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTCTGATTCTTCACCTCCG	0.338000													12	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179589210	179589210	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:179589210C>G	ENST00000589042.1	-	72	21116	c.20892G>C	c.(20890-20892)acG>acC	p.T6964T	TTN_ENST00000342992.6_Silent_p.T5720T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T6647T|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6647	Ig-like 51.						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)			CCAGAGTGCACGTTTCTCCTA	0.473000													12	46					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328285	152328285	+	Silent	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152328285T>A	ENST00000388718.5	-	3	2049	c.1977A>T	c.(1975-1977)ggA>ggT	p.G659G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	659	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCCTGATCCATATTGGC	0.493000													44	586					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323359	31323359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:31323359C>T	ENST00000265071.2	+	12	2582	c.2317C>T	c.(2317-2319)Cga>Tga	p.R773*		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	773					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGGGGACCTCGATTCAAAAA	0.468000													57	114					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30685575	30685575	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:30685575C>G	ENST00000394670.4	+	3	391	c.222C>G	c.(220-222)gaC>gaG	p.D74E	ZNF207_ENST00000342555.6_Missense_Mutation_p.D77E|ZNF207_ENST00000394673.2_Missense_Mutation_p.D74E|ZNF207_ENST00000321233.6_Missense_Mutation_p.D74E|ZNF207_ENST00000341711.6_Intron|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000577908.1_Missense_Mutation_p.D74E	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAAGAACAGACATAGAGTTGG	0.328000													11	133					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14776092	14776092	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:14776092C>T	ENST00000380881.4	-	26	5370	c.4555G>A	c.(4555-4557)Gcc>Acc	p.A1519T	FREM1_ENST00000380894.1_Missense_Mutation_p.A54T|FREM1_ENST00000422223.2_Missense_Mutation_p.A1518T|FREM1_ENST00000380880.3_Missense_Mutation_p.A1518T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1518					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCCCTTGGGCCAGTCTCAAC	0.607000													36	58					0	0	1	0	0
C4orf32	132720	broad.mit.edu	37	4	113107862	113107862	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:113107862C>G	ENST00000309733.4	+	2	351	c.167C>G	c.(166-168)tCa>tGa	p.S56*		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	56						integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		GTTGAAGACTCACAGAACCAC	0.358000													54	101					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907336	153907336	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:153907336C>G	ENST00000361217.4	-	18	3091	c.2673G>C	c.(2671-2673)ttG>ttC	p.L891F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	891	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gcCGTTCTCTCAAGGGCTGGC	0.632000													6	135					0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203748997	203748997	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:203748997G>A	ENST00000261015.3	-	10	1661	c.912C>T	c.(910-912)tcC>tcT	p.S304S		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	304	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GTGGAGAATAGGAAATACAAT	0.373000													21	55					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120035	38120035	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:38120035C>T	ENST00000406386.3	+	7	1727	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					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)					AGAGCCTCCTCTCCCAGTAGA	0.592000													6	193					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071619	53071619	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:53071619C>G	ENST00000276480.7	-	15	2328	c.1645G>C	c.(1645-1647)Ggc>Cgc	p.G549R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGTGGGCGCCTGCACTAGGC	0.478000													45	51					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718793	140718793	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:140718793C>T	ENST00000394576.2	+	1	255	c.255C>T	c.(253-255)gtC>gtT	p.V85V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGGTCACTGCGAACA	0.552000													20	100					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180338421	180338421	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:180338421C>T	ENST00000231229.4	+	3	714	c.480C>T	c.(478-480)ttC>ttT	p.F160F	BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000508408.1_Silent_p.F160F|BTNL8_ENST00000400707.3_Silent_p.F35F|BTNL8_ENST00000340184.4_Silent_p.F160F|BTNL8_ENST00000511704.1_Silent_p.F44F|BTNL8_ENST00000533815.2_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	160	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTGGTTCCCCCGGCCCA	0.532000													159	354					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89805657	89805657	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:89805657C>T	ENST00000389301.3	-	41	4081	c.4051G>A	c.(4051-4053)Gag>Aag	p.E1351K	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.E1351K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1351					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGAAGGCCTCTTCCCTGATG	0.527000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	47					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628273	29628273	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:29628273A>G	ENST00000278882.3	+	6	655	c.275A>G	c.(274-276)aAt>aGt	p.N92S	FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S|FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTAGATGCAATGAAGCAGGG	0.373000													4	176					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57167906	57167906	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:57167906C>T	ENST00000554643.1	+	3	619	c.270C>T	c.(268-270)atC>atT	p.I90I	HSD17B6_ENST00000555805.1_Silent_p.I90I|HSD17B6_ENST00000554150.1_Silent_p.I90I|HSD17B6_ENST00000555159.1_Silent_p.I90I|HSD17B6_ENST00000322165.1_Silent_p.I90I			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	90					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TGGAGAGCATCGCTGCAGCTA	0.512000													26	59					0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34159749	34159749	+	Missense_Mutation	SNP	G	G	A	rs115892491	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:34159749G>A	ENST00000306730.3	-	5	1049	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	307					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	p.T307M(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		GTCCTGAGACGTCTGATCTGG	0.433000													93	103					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150710600	150710600	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:150710600C>G	ENST00000344419.3	+	2	431	c.291C>G	c.(289-291)ctC>ctG	p.L97L	IYD_ENST00000229447.5_Silent_p.L97L|IYD_ENST00000392256.2_Silent_p.L97L|IYD_ENST00000425615.3_Silent_p.L42L|IYD_ENST00000500320.3_Silent_p.L97L|IYD_ENST00000392255.3_Silent_p.L97L	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	97					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ATGAACTTCTCAATAAGAGAC	0.408000													10	116					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120430335	120430335	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:120430335C>G	ENST00000259526.3	+	3	575	c.348C>G	c.(346-348)atC>atG	p.I116M		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	116	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGGGTCATCTACCGCAGTG	0.488000													19	198					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36181987	36181987	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:36181987C>G	ENST00000274255.6	+	10	1325	c.1129C>G	c.(1129-1131)Caa>Gaa	p.Q377E	SKP2_ENST00000546211.1_Missense_Mutation_p.Q163E|SKP2_ENST00000508514.1_Missense_Mutation_p.Q170E|SKP2_ENST00000274254.5_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	377					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTACCCTTCAACTGTTAAA	0.413000													41	197					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37429429	37429429	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr21:37429429G>A	ENST00000399215.1	-	2	1519	c.147C>T	c.(145-147)aaC>aaT	p.N49N	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Silent_p.N25N|SETD4_ENST00000399207.1_Silent_p.N49N|SETD4_ENST00000332131.4_Silent_p.N49N|SETD4_ENST00000399201.1_Silent_p.N25N|SETD4_ENST00000399205.1_Silent_p.N25N|SETD4_ENST00000399208.2_Silent_p.N49N			Q9NVD3	SETD4_HUMAN	SET domain containing 4	49	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CAGGCGCTAAGTTTGAATCTT	0.493000													35	132					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140023221	140023221	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:140023221T>C	ENST00000394671.3	+	8	980	c.879T>C	c.(877-879)gcT>gcC	p.A293A	TMCO6_ENST00000252100.6_Silent_p.A299A|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.A53A	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	293					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACTTGGCTGGGGCTGTCC	0.537000													83	94					0	0	1	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139090444	139090444	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:139090444G>A	ENST00000354926.4	+	5	775	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	LUC7L2_ENST00000541515.3_Missense_Mutation_p.E207K|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.E138K|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.E140K	NM_016019.3	NP_057103.2																					AGCCAAGGTGGAACAACTAGG	0.363000													10	49					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11979383	11979383	+	Silent	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:11979383A>G	ENST00000304030.2	+	3	1699	c.1499A>G	c.(1498-1500)tAa>tGa	p.*500*	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.*364*	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAGACCTTATAAATATAAGAT	0.348000													21	85					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44776530	44776530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:44776530C>T	ENST00000260327.4	+	3	858	c.295C>T	c.(295-297)Cga>Tga	p.R99*	CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.R99*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.R99*|CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.R99*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	99							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACAGATATCTCGAGTAAGACG	0.343000													10	49					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11840769	11840769	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:11840769G>A	ENST00000262442.3	+	66	12658	c.12590G>A	c.(12589-12591)cGc>cAc	p.R4197H	DNAH9_ENST00000396001.2_Missense_Mutation_p.R509H|DNAH9_ENST00000454412.2_Missense_Mutation_p.R4121H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4197					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGCTCTTCCGCACTGTGCTG	0.602000													4	83					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23632776	23632776	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:23632776A>T	ENST00000261584.4	-	10	3172	c.3020T>A	c.(3019-3021)aTg>aAg	p.M1007K	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1007	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTCAGGGGGCATCAAAAATTG	0.398000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					4	123					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196367733	196367733	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:196367733C>G	ENST00000367433.5	-	13	1355	c.1254G>C	c.(1252-1254)caG>caC	p.Q418H	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.Q29H|KCNT2_ENST00000294725.8_Missense_Mutation_p.Q418H|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q418H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	418						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTTTAATATCTGGACATACA	0.338000													9	66					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35559686	35559686	+	Splice_Site	SNP	T	T	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:35559686T>G	ENST00000373330.1	+	3	270		c.e3+2		ZMYM1_ENST00000359858.4_Splice_Site|ZMYM1_ENST00000373329.1_Intron			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1							nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGCTCAAGTAAATATTTTC	0.358000													7	47					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33264023	33264023	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:33264023G>A	ENST00000497454.1	-	6	1045	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	RGL2_ENST00000444031.2_Missense_Mutation_p.R102W|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	184	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCTCAAGCCGGTCAAGCTGA	0.602000													6	233					0	0	1	0	0
SPINK2	6691	broad.mit.edu	37	4	57686742	57686742	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:57686742G>C	ENST00000506738.1	-	2	288	c.209C>G	c.(208-210)tCt>tGt	p.S70C	SPINK2_ENST00000504762.1_Missense_Mutation_p.S55C|SPINK2_ENST00000248701.4_Missense_Mutation_p.S20C	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	20	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					AGGGATCAGAGAGGCTGTAAG	0.348000													11	58					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227079502	227079502	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:227079502C>G	ENST00000366782.1	+	11	1628	c.1128C>G	c.(1126-1128)ccC>ccG	p.P376P	PSEN2_ENST00000472139.2_Silent_p.P199P|PSEN2_ENST00000366783.3_Silent_p.P343P|PSEN2_ENST00000340188.4_Silent_p.P310P|PSEN2_ENST00000422240.2_Silent_p.P342P|PSEN2_ENST00000391872.2_Silent_p.P376P|PSEN2_ENST00000471728.1_3'UTR			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	343					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TTGAGCCTCCCTTGACTGGCT	0.572000													31	63					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442331	89442331	+	RNA	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:89442331G>A	ENST00000492167.1	-	0	125																											TGGAGACTGCGTCAACACAAT	0.493000													41	96					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232377	21232377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:21232377G>A	ENST00000233242.1	-	26	7490	c.7363C>T	c.(7363-7365)Cag>Tag	p.Q2455*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2455					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCAGAGCCTGAATTTCACCA	0.398000													50	234					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27373640	27373640	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:27373640G>A	ENST00000395762.2	+	11	1226	c.967G>A	c.(967-969)Gat>Aat	p.D323N	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.D323N|IL4R_ENST00000543915.2_Missense_Mutation_p.D323N|IL4R_ENST00000380922.3_Missense_Mutation_p.D308N	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	323					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AAGGGATGAAGATCCTCACAA	0.493000													29	122					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175105985	175105985	+	Silent	SNP	C	C	T	rs144928544	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:175105985C>T	ENST00000239462.4	+	17	3569	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1152	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCTCACCACCGGCACTCCAG	0.453000													11	91					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102053	58102053	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:58102053G>A	ENST00000597850.1	+	4	1089	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	ZIK1_ENST00000536878.2_Missense_Mutation_p.E279K|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.E237K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACACCGGAGAAAGGCCTTA	0.458000													22	113					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99856100	99856100	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:99856100C>G	ENST00000369239.5	-	7	925	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	PNISR_ENST00000438806.1_Missense_Mutation_p.E241Q	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	241						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCATTTTTTCAAGACCTTCG	0.388000													33	131					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56145842	56145842	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:56145842C>T	ENST00000434526.2	+	7	727	c.696C>T	c.(694-696)gtC>gtT	p.V232V	SUMF2_ENST00000275607.9_Silent_p.V125V|SUMF2_ENST00000437307.2_Silent_p.V144V|SUMF2_ENST00000413756.1_Silent_p.V213V|SUMF2_ENST00000395435.2_Silent_p.V148V|SUMF2_ENST00000395436.2_Silent_p.V217V|SUMF2_ENST00000342190.6_Silent_p.V232V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	213						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCATGGAGTCTCCCCAGTGA	0.542000													12	185					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32302245	32302245	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:32302245G>A	ENST00000400246.1	+	42	4655	c.4513G>A	c.(4513-4515)Ggc>Agc	p.G1505S	DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425Q|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342Q|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1516Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1505S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1503Q			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction			p.R1494Q(1)|p.R1425Q(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGCAGCAGCGGCGGCGGCGG	0.607000													4	84					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270868	97270868	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:97270868C>G	ENST00000523821.1	-	2	170	c.51G>C	c.(49-51)ttG>ttC	p.L17F	MTERFD1_ENST00000287025.3_Missense_Mutation_p.L17F			Q96E29	MTER1_HUMAN	MTERF domain containing 1	17					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGAGGCTCCTCAACTTAACTG	0.398000													44	258					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282048	152282048	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152282048G>C	ENST00000368799.1	-	3	5349	c.5314C>G	c.(5314-5316)Cat>Gat	p.H1772D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1772	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTTCATGAGTGCTCACC	0.612000									Ichthyosis				63	434					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58140501	58140501	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:58140501G>T	ENST00000257910.3	+	4	716	c.442G>T	c.(442-444)Gca>Tca	p.A148S	TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547992.1_Intron|TSPAN31_ENST00000547472.1_Missense_Mutation_p.A65S	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	148					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTTCTGCACTGCAGTGAGTGT	0.448000													12	61					0.00136819	0.00139296	1	1	0
OR5K3	403277	broad.mit.edu	37	3	98109749	98109749	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:98109749G>A	ENST00000383695.1	+	1	240	c.240G>A	c.(238-240)aaG>aaA	p.K80K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTACTCCCAAGATGTTAGAGA	0.378000													63	463					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520235	131520235	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:131520235G>A	ENST00000423981.1	+	2	700	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	AMER3_ENST00000321420.4_Missense_Mutation_p.R197Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.R197Q(2)									GGGGGGCGGCGAAGCAAAGCC	0.672000													8	79					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45767945	45767945	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:45767945A>T	ENST00000300843.4	+	5	656	c.359A>T	c.(358-360)aAg>aTg	p.K120M	MARK4_ENST00000262891.4_Missense_Mutation_p.K120M	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	120	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATTATAGTGAAGCTCTTTGAG	0.547000													63	170					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23346091	23346091	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:23346091C>T	ENST00000338121.5	+	2	1148	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Silent_p.F357F			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	357					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCCAGACCTTCGCCAACCGCT	0.622000													13	107					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58734061	58734061	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:58734061C>G	ENST00000305921.3	+	5	1351	c.1119C>G	c.(1117-1119)atC>atG	p.I373M		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	373	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CCATAGTAATCTGCATCTCTC	0.463000													18	87					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19343784	19343784	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19343784C>T	ENST00000263208.5	-	20	2680	c.2424G>A	c.(2422-2424)gtG>gtA	p.V808V	HIRA_ENST00000546308.1_Silent_p.V764V|HIRA_ENST00000541063.1_Silent_p.V764V|HIRA_ENST00000340170.4_Silent_p.V601V	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	808	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.|Poly-Val.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACTCTTCTTTCACCACAACCA	0.527000													26	156					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399881	40399881	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:40399881G>C	ENST00000338305.6	-	2	1514	c.972C>G	c.(970-972)gcC>gcG	p.A324A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	324	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTCATCGGGGGCTACCCAGT	0.587000													6	83					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88046198	88046198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:88046198G>T	ENST00000307808.6	+	12	2875	c.2455G>T	c.(2455-2457)Gaa>Taa	p.E819*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.E826*|AFF1_ENST00000544085.1_Nonsense_Mutation_p.E457*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	819						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGGTGAAGCAGAAAGAGACTG	0.338000													9	47					0.000442599	0.000452658	1	1	0
RPH3AL	9501	broad.mit.edu	37	17	171158	171158	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:171158C>A	ENST00000323434.8	-	4	723	c.126G>T	c.(124-126)agG>agT	p.R42S	RPH3AL_ENST00000536489.2_Missense_Mutation_p.R42S|RPH3AL_ENST00000331302.7_Missense_Mutation_p.R42S	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	42	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GCTGCTTCCTCCTCTGCTTCT	0.662000													9	113					6.40141e-05	6.60696e-05	1	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			25	70					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132398	193132398	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:193132398C>G	ENST00000342695.4	-	26	3306	c.2984G>C	c.(2983-2985)aGg>aCg	p.R995T	ATP13A4_ENST00000400270.2_Missense_Mutation_p.R11T|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R976T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	995					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAGGCTGCCTCTGAACCAG	0.468000													17	101					0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44314553	44314553	+	Missense_Mutation	SNP	T	T	A	rs142448374		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:44314553T>A	ENST00000330523.5	-	3	309	c.79A>T	c.(79-81)Atg>Ttg	p.M27L	WFDC10B_ENST00000335769.2_Intron	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	27						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TGCATCCTCATCTTGTCACGG	0.577000													12	26					0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120320071	120320071	+	Silent	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:120320071C>A	ENST00000485064.1	+	2	326	c.294C>A	c.(292-294)ctC>ctA	p.L98L	NDUFB4_ENST00000184266.2_Silent_p.L98L|NDUFB4_ENST00000492739.1_Intron	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	98					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TTGGGCCCCTCATCTTCATTT	0.413000													140	340					3.45299e-71	3.78987e-71	1	1	0
RNF8	9025	broad.mit.edu	37	6	37342431	37342431	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:37342431G>C	ENST00000373479.4	+	5	1267	c.1074G>C	c.(1072-1074)aaG>aaC	p.K358N	RNF8_ENST00000469731.1_Missense_Mutation_p.K358N	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	358					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						ATCGCAGCAAGAAGGACTTTG	0.398000													7	117					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103495339	103495339	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:103495339C>T	ENST00000372588.4	-	4	874	c.791G>A	c.(790-792)aGg>aAg	p.R264K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	264	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						tatgggtggcctgggtggcat	0.657000													95	34					0	0	1	0	0
ZNF540	163255	broad.mit.edu	37	19	38102635	38102635	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:38102635G>A	ENST00000592533.1	+	5	786	c.454G>A	c.(454-456)Gat>Aat	p.D152N	ZNF540_ENST00000316433.4_Missense_Mutation_p.D152N|ZNF540_ENST00000589117.1_Missense_Mutation_p.D120N|ZNF540_ENST00000343599.5_Missense_Mutation_p.D152N|ZNF540_ENST00000586792.1_3'UTR	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTCAACTGATAGAAAACG	0.363000													26	148					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4086837	4086837	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:4086837G>A	ENST00000341657.4	-	14	1843	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.T645M|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T603M	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	603						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGCTGCGATCGTGTGCATGCC	0.577000													4	80					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104744	74104744	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:74104744G>C	ENST00000370336.4	+	1	274	c.116G>C	c.(115-117)gGt>gCt	p.G39A	DDX43_ENST00000539829.1_Missense_Mutation_p.G39A|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	39						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AATCGAACAGGTCCTGAGGGA	0.642000													4	138					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830762	46830762	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:46830762G>A	ENST00000283296.7	-	15	2350	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	GPR116_ENST00000456426.2_Missense_Mutation_p.R546W|GPR116_ENST00000545669.1_Missense_Mutation_p.R117W|GPR116_ENST00000265417.7_Missense_Mutation_p.R688W|GPR116_ENST00000362015.4_Missense_Mutation_p.R688W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	688					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTGAGAACCGGCATAGCTTC	0.507000													50	166					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43075781	43075781	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:43075781C>T	ENST00000267890.6	-	11	1141	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	TTBK2_ENST00000567840.1_Missense_Mutation_p.E345K|TTBK2_ENST00000567274.1_Missense_Mutation_p.E310K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	345					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGAAATACCTCATCTGTATTT	0.443000													52	211					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450867	105450867	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:105450867G>C	ENST00000337685.2	+	5	2227	c.1442G>C	c.(1441-1443)gGt>gCt	p.G481A	MUM1L1_ENST00000372552.1_Missense_Mutation_p.G481A|MUM1L1_ENST00000357175.2_Missense_Mutation_p.G481A	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	481										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTTAGAATAGGTTGTGGTTCT	0.383000													11	51					0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68551860	68551860	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:68551860T>A	ENST00000229135.3	-	3	330	c.199A>T	c.(199-201)Ata>Tta	p.I67L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	67					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	CTCTGCATTATTTTTCTGTCA	0.373000													5	88					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	123					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123652563	123652563	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:123652563C>G	ENST00000485727.1	-	6	5519	c.927G>C	c.(925-927)caG>caC	p.Q309H	CCDC14_ENST00000488653.2_Missense_Mutation_p.Q509H|CCDC14_ENST00000433542.2_Missense_Mutation_p.Q468H|CCDC14_ENST00000310351.4_Missense_Mutation_p.Q349H|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.Q309H			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	509						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTTGAGTTTTCTGTTGTTCTC	0.348000													4	26					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42509942	42509942	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:42509942G>C	ENST00000262895.3	-	16	2195	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	GRIK5_ENST00000593562.1_Silent_p.L732L|GRIK5_ENST00000301218.4_Silent_p.L732L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	732						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGTTGCAGTTGAGGCGCCGGT	0.622000													7	44					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19343812	19343812	+	Splice_Site	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19343812C>G	ENST00000263208.5	-	20	2653		c.e20-1		HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTGAACATCCCTAGGAGGGAG	0.547000													20	139					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692154	116692154	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:116692154T>C	ENST00000357780.3	-	3	734	c.620A>G	c.(619-621)gAa>gGa	p.E207G		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GACTTTGAATTCGTCAGCGTA	0.622000													109	155					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10630267	10630267	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:10630267C>G	ENST00000254958.5	-	10	1766	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D	JAG1_ENST00000423891.2_Missense_Mutation_p.E258D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	417	EGF-like 6; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AAGGTTTGGCCTCACATTCAT	0.468000									Alagille Syndrome				10	36					0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631601	241631601	+	Silent	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:241631601C>A	ENST00000429564.1	+	2	333	c.270C>A	c.(268-270)gcC>gcA	p.A90A	AQP12A_ENST00000337801.4_Silent_p.A78A			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	78						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGGACGGGGCCTCGGCCAACC	0.677000													16	67					1.01871e-10	1.07108e-10	1	1	0
EIF1AD	84285	broad.mit.edu	37	11	65766195	65766195	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:65766195G>A	ENST00000312234.2	-	6	707	c.373C>T	c.(373-375)Cca>Tca	p.P125S	EIF1AD_ENST00000527249.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000526451.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000525767.1_Missense_Mutation_p.P73S|EIF1AD_ENST00000533544.1_Missense_Mutation_p.P125S	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	125						nucleus	translation initiation factor activity			lung(5)	5						GGCTCAGCTGGGAGTTCTGGT	0.473000													73	180					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903610	119903610	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:119903610G>C	ENST00000313400.4	-	4	1263	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	ASTN2_ENST00000373996.3_Missense_Mutation_p.S388C|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	388						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCTACCTCGAGACTTGCTCCT	0.572000													11	46					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159188386	159188386	+	Silent	SNP	C	C	T	rs149944596		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:159188386C>T	ENST00000367075.3	-	13	1671	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	EZR_ENST00000392177.4_Silent_p.A469A|EZR_ENST00000337147.7_Silent_p.A501A	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	501	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TAGACAGCTCCGCGCTGTAGC	0.657000			T	ROS1	NSCLC								29	104					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4910834	4910834	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:4910834G>A	ENST00000396658.4	+	6	1544	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	UBN1_ENST00000590769.1_Missense_Mutation_p.E281K|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.E281K|UBN1_ENST00000545171.1_Missense_Mutation_p.E281K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	281					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGGCCTGCGGGAACTGGAGGG	0.542000													42	90					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895634	17895634	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:17895634C>T	ENST00000594202.1	+	26	2606	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	FCHO1_ENST00000600676.1_Missense_Mutation_p.P776L|FCHO1_ENST00000596536.1_Missense_Mutation_p.P776L|FCHO1_ENST00000539407.1_Missense_Mutation_p.P776L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P783L|FCHO1_ENST00000389133.4_Missense_Mutation_p.P776L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P776L|FCHO1_ENST00000596951.1_Missense_Mutation_p.P776L|FCHO1_ENST00000595033.1_Missense_Mutation_p.P726L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	776										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGCTACCGGCCCGGTGCCACG	0.677000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	94					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282445	152282445	+	Silent	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152282445A>G	ENST00000368799.1	-	3	4952	c.4917T>C	c.(4915-4917)gaT>gaC	p.D1639D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1639	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGGCTCTATCTTCTTGAT	0.557000									Ichthyosis				175	382					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135027489	135027489	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:135027489G>A	ENST00000304613.3	+	26	4561	c.4540G>A	c.(4540-4542)Gag>Aag	p.E1514K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1516K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1514	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGCTCTTCTGAGTCTCTTTC	0.557000													6	227					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837499	12837499	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:12837499G>A	ENST00000357726.4	+	3	1236	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	403										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTCGGGCTGAGCAAGCTAA	0.607000													44	169					0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191098615	191098615	+	Splice_Site	SNP	A	A	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:191098615A>C	ENST00000392455.3	+	8	1207		c.e8-1		CCDC50_ENST00000392456.3_Splice_Site	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TATTTTGTTTAGGAAATCGCT	0.368000													12	82					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496975	152496975	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:152496975G>A	ENST00000427231.2	-	61	8781	c.8579C>T	c.(8578-8580)aCc>aTc	p.T2860I	NEB_ENST00000397345.3_Missense_Mutation_p.T2860I|NEB_ENST00000603639.1_Missense_Mutation_p.T2860I|NEB_ENST00000604864.1_Missense_Mutation_p.T2860I|NEB_ENST00000172853.10_Missense_Mutation_p.T2860I|NEB_ENST00000409198.1_Missense_Mutation_p.T2860I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2860					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTGACTAAGGTCTGGCACTT	0.567000													6	399					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330660	7330660	+	Silent	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7330660G>T	ENST00000333870.3	+	3	1424	c.1350G>T	c.(1348-1350)cgG>cgT	p.R450R	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	450						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CACTCAGCCGGAATCCAGGGG	0.642000													34	33					4.23469e-30	4.60292e-30	1	1	0
S100A12	6283	broad.mit.edu	37	1	153347014	153347014	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:153347014A>T	ENST00000368737.3	-	2	172	c.55T>A	c.(55-57)Tca>Aca	p.S19T		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	19	EF-hand 1.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TTCCGAACTGAGTATTGGTGG	0.463000													76	148					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487663	117487663	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:117487663G>A	ENST00000393203.2	+	3	928	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	261	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAACTGGCAGGAAATCCAAGA	0.562000													7	34					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152423811	152423811	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:152423811G>C	ENST00000427231.2	-	114	18229	c.18027C>G	c.(18025-18027)gtC>gtG	p.V6009V	NEB_ENST00000397345.3_Silent_p.V6009V|NEB_ENST00000603639.1_Silent_p.V6009V|NEB_ENST00000604864.1_Silent_p.V6009V|NEB_ENST00000172853.10_Silent_p.V4308V|NEB_ENST00000409198.1_Silent_p.V4308V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6026					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCGGCCAAGACTGACACCA	0.443000													16	79					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	118030416	118030416	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:118030416G>C	ENST00000439649.3	-	3	619	c.252C>G	c.(250-252)ctC>ctG	p.L84L	GFRA1_ENST00000369236.1_Silent_p.L84L|GFRA1_ENST00000355422.6_Silent_p.L84L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	84					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCAGTTGTAGAGCGACTTCT	0.612000													18	54					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34093292	34093292	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:34093292C>T	ENST00000361264.4	-	7	1357	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	339						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						ACCACTGCCTCGCTCCCTGGA	0.502000													13	85					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48081953	48081953	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:48081953C>T	ENST00000264316.4	-	11	1234	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	TXK_ENST00000507351.1_Silent_p.R38R	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	383	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TATAGCCATTCCTCTCCAGAT	0.353000													24	99					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158985713	158985713	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:158985713C>T	ENST00000295809.7	+	3	572	c.317C>T	c.(316-318)tCa>tTa	p.S106L	IFI16_ENST00000340979.6_Missense_Mutation_p.S106L|IFI16_ENST00000368132.3_Missense_Mutation_p.S106L|IFI16_ENST00000368131.4_Missense_Mutation_p.S106L|IFI16_ENST00000430894.2_Missense_Mutation_p.S110L|IFI16_ENST00000359709.3_Missense_Mutation_p.S106L|IFI16_ENST00000448393.2_Missense_Mutation_p.S106L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	106	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GATGCTACTTCACCTGCACCC	0.473000													6	64					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593840	31593840	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:31593840A>T	ENST00000376033.2	+	9	1117	c.883A>T	c.(883-885)Atg>Ttg	p.M295L	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.M295L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	295	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGGGCCACCAATGCGCTTAGT	0.493000													41	120					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121623770	121623770	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:121623770C>G	ENST00000393386.2	+	7	1082	c.671C>G	c.(670-672)tCa>tGa	p.S224*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.S224*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	224	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTGCCAAACTCAACTGACAAG	0.393000													19	164					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70707744	70707744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:70707744C>A	ENST00000226444.3	-	8	965	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	285					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AGTGTAGATTCCTTCATTTGC	0.308000													27	39					2.44723e-14	2.60961e-14	1	1	0
TAB1	10454	broad.mit.edu	37	22	39812816	39812816	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:39812816G>C	ENST00000216160.6	+	4	407	c.345G>C	c.(343-345)agG>agC	p.R115S	TAB1_ENST00000331454.3_Missense_Mutation_p.R115S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	115	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGGTGGAGAGGAGCTTCCTGG	0.552000													19	115					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	630911	630911	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:630911C>T	ENST00000321878.5	+	9	1629	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	PIGQ_ENST00000409527.2_Silent_p.L490L|PIGQ_ENST00000026218.5_Silent_p.L490L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	490	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCGTGGACCTCATCAACTCCC	0.667000													75	194					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117707860	117707860	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:117707860C>T	ENST00000276204.6	+	12	1342	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	DOCK11_ENST00000276202.7_Missense_Mutation_p.S423F			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	423					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AATCCCCCATCTGTCCGTGAA	0.453000													135	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578234	7578234	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7578234A>T	ENST00000420246.2	-	6	747	c.615T>A	c.(613-615)taT>taA	p.Y205*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y205*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y205*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.Y205*(4)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTCATCCAAATACTCCACAC	0.542000		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)			31	34					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1474275	1474275	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:1474275G>T	ENST00000297508.7	-	17	2847	c.2672C>A	c.(2671-2673)tCc>tAc	p.S891Y	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.S679Y	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	891						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCAGATCTTGGACAAGCGGAA	0.632000													24	149					3.17567e-06	3.32337e-06	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109695358	109695358	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:109695358C>G	ENST00000465301.2	+	3	1759	c.1513C>G	c.(1513-1515)Cca>Gca	p.P505A	RGAG1_ENST00000540313.1_Missense_Mutation_p.P505A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	505										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAGGAGAGCTCCAACTTCTGG	0.512000													5	237					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1034966	1034966	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:1034966C>T	ENST00000296849.5	+	7	751	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000274150.4_Silent_p.T174T	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.T174T(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617000													11	38					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18506492	18506492	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:18506492G>A	ENST00000336714.3	+	7	1182	c.750G>A	c.(748-750)caG>caA	p.Q250Q	SEC23B_ENST00000377475.3_Silent_p.Q250Q|SEC23B_ENST00000377465.1_Silent_p.Q250Q|SEC23B_ENST00000262544.2_Silent_p.Q250Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGGAGCTACAGAGGGACCCAT	0.448000													9	154					0	0	1	0	0
C1orf53	388722	broad.mit.edu	37	1	197874930	197874930	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:197874930G>A	ENST00000367393.3	+	2	272	c.269G>A	c.(268-270)gGc>gAc	p.G90D	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	90								p.G90D(2)		endometrium(1)|lung(1)	2						CTTCAGGCTGGCCAGCTAAAC	0.398000													5	164					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113082071	113082071	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:113082071G>A	ENST00000409871.1	+	10	2084	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	ZC3H6_ENST00000343936.4_Missense_Mutation_p.M561I	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	561							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GACATGTGATGAAAGTACCCA	0.483000													10	28					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64853793	64853793	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:64853793G>C	ENST00000328747.7	+	3	404	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	ZNF92_ENST00000450302.2_5'UTR|ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000357512.2_Intron	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	69	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAAGAGACATGAGATGGTAGA	0.408000													7	229					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49228160	49228160	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:49228160C>G	ENST00000222145.4	-	9	2389	c.2185G>C	c.(2185-2187)Gag>Cag	p.E729Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	729	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCCGGCAGCTCTGCACCAGCT	0.572000													19	125					0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73101946	73101946	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:73101946C>G	ENST00000064780.2	+	4	528	c.267C>G	c.(265-267)ctC>ctG	p.L89L	RELT_ENST00000393580.2_Silent_p.L89L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	89						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GAGATACACTCTGTGGAGACT	0.642000													24	50					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901581	215901581	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:215901581T>A	ENST00000366943.2	-	61	12243	c.11857A>T	c.(11857-11859)Agt>Tgt	p.S3953C	USH2A_ENST00000307340.3_Missense_Mutation_p.S3953C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3953	Fibronectin type-III 24.				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)		GACCACAGACTCTCCACTGAA	0.488000										HNSCC(13;0.011)			23	88					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1586992	1586992	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:1586992C>G	ENST00000572621.1	-	2	369	c.104G>C	c.(103-105)cGa>cCa	p.R35P	PRPF8_ENST00000304992.6_Missense_Mutation_p.R35P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	35						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGCCATTTTCGAGCTGGAAA	0.537000													4	72					0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28600485	28600485	+	Splice_Site	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:28600485G>C	ENST00000317058.3	+	5	476	c.289_splice	c.e5+1	p.A97_splice		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	97					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						GAGGCGGATTGGTGAGTGGGA	0.587000													35	217					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22826466	22826466	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:22826466G>C	ENST00000266517.4	+	6	1173	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	362					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGTATCCAGATAGAGAACT	0.363000													17	171					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123413	151123413	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:151123413C>G	ENST00000370328.3	-	9	1334	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	427					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTAGGGGGCTGCTGGGCTG	0.607000													15	6					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018476	62018476	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:62018476G>C	ENST00000578147.1	-	24	5242	c.5166C>G	c.(5164-5166)ctC>ctG	p.L1722L	SCN4A_ENST00000435607.1_Silent_p.L1722L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1722					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCTTCCTCTTGAGGGTGGTGG	0.602000													23	136					0	0	1	0	0
LY96	23643	broad.mit.edu	37	8	74941282	74941282	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:74941282C>G	ENST00000284818.2	+	5	567	c.476C>G	c.(475-477)tCa>tGa	p.S159*	LY96_ENST00000518893.1_Nonsense_Mutation_p.S129*	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	159					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CAACCTAATTCAAATTAGAAT	0.323000													17	104					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129499634	129499634	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:129499634T>C	ENST00000218197.5	+	8	1066	c.839T>C	c.(838-840)gTt>gCt	p.V280A	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.V277A|SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.V308A	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	280					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AAGGGCACTGTTGATGGTATT	0.443000													17	229					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931530	144931530	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:144931530C>A	ENST00000529945.1	-	1	618	c.179G>T	c.(178-180)cGa>cTa	p.R60L	PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R60L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGATAGATTCGATCAAGCAT	0.507000			T	PDGFRB	MPD								17	126					3.52763e-06	3.67462e-06	1	1	0
RPS26	6231	broad.mit.edu	37	12	56436379	56436379	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:56436379C>G	ENST00000356464.5	+	2	488	c.174C>G	c.(172-174)gtC>gtG	p.V58V	RPS26_ENST00000552361.1_Silent_p.V58V			P62854	RS26_HUMAN	ribosomal protein S26	58					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGCGAGCGTCTTCGATGGTA	0.537000													28	72					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302363	186302363	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:186302363G>A	ENST00000439351.1	+	10	1926	c.997G>A	c.(997-999)Gag>Aag	p.E333K	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E333K			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	333					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		ACAGTTAACAGAGGAAGCGAG	0.413000													5	150					0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166021940	166021940	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:166021940C>G	ENST00000306480.5	-	3	424	c.279G>C	c.(277-279)caG>caC	p.Q93H	TMEM192_ENST00000506087.1_Missense_Mutation_p.Q89H	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	93						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TTATAACCGTCTGAACTTTCA	0.378000													4	153					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303341	41303341	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:41303341G>A	ENST00000347132.5	+	13	1832	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.D530N	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	584	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCTTAGGGTGGACCAAATTGT	0.622000													5	21					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369631	126369631	+	Missense_Mutation	SNP	C	C	T	rs144853732		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:126369631C>T	ENST00000394329.3	+	9	7473	c.7460C>T	c.(7459-7461)gCg>gTg	p.A2487V	FAT4_ENST00000335110.5_Missense_Mutation_p.A785V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTGTCTTTGCGGTTACAGTC	0.363000													6	281					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858522	52858522	+	Silent	SNP	G	G	C	rs917693		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:52858522G>C	ENST00000266041.4	-	8	1032	c.936C>G	c.(934-936)ctC>ctG	p.L312L	ITIH4_ENST00000346281.5_Silent_p.L312L|ITIH4_ENST00000485816.1_Silent_p.L312L|ITIH4_ENST00000434759.3_Silent_p.L224L|ITIH4_ENST00000406595.1_Silent_p.L312L|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	312	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGAAGACGATGAGGTTGAACT	0.572000													17	89					0	0	1	0	0
YAF2	10138	broad.mit.edu	37	12	42555436	42555436	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:42555436T>A	ENST00000327791.4	-	4	279	c.212A>T	c.(211-213)aAg>aTg	p.K71M	YAF2_ENST00000380790.4_Missense_Mutation_p.K53M|YAF2_ENST00000442791.3_Missense_Mutation_p.K119M|YAF2_ENST00000380788.3_Missense_Mutation_p.K86M|YAF2_ENST00000534854.2_Missense_Mutation_p.K95M			Q8IY57	YAF2_HUMAN	YY1 associated factor 2	95					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		ATGGCTAttctttttgctagt	0.299000													12	46					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150432681	150432681	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:150432681G>A	ENST00000401000.4	+	8	1286	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.V433V|RPRD2_ENST00000539519.1_Silent_p.V407V			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	433							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAAGCCTGTGAATACTTCTC	0.468000													7	45					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189766	38189766	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:38189766T>C	ENST00000355202.4	-	5	1861	c.1266A>G	c.(1264-1266)aaA>aaG	p.K422K	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.K421K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTCCTTACATTTGTAGGGTT	0.398000													66	159					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43832348	43832348	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:43832348G>A	ENST00000402924.1	+	6	452	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	BLVRA_ENST00000265523.4_Missense_Mutation_p.E97K	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	97					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	CGTCCTTGTGGAATACCCCAT	0.473000													12	83					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238727099	238727099	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:238727099G>A	ENST00000316997.4	+	3	1672	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.E514K	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	513							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATGGCAAAATGAGAAACAAAA	0.378000													9	57					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3275520	3275520	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:3275520G>C	ENST00000382004.3	-	10	1377	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	RFX3_ENST00000358730.2_Missense_Mutation_p.L356V|RFX3_ENST00000302303.1_Missense_Mutation_p.L356V	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	356					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCTCTATAAAGACTCTGCAGT	0.388000													25	85					0	0	1	0	0
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577000													4	137					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179529143	179529143	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:179529143C>T	ENST00000393371.2	-	12	1600	c.1303_splice	c.e12-1	p.G435_splice	RASGEF1C_ENST00000522500.1_Splice_Site_p.G284_splice|RASGEF1C_ENST00000361132.4_Splice_Site_p.G435_splice			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	435	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAATAAAGACCTAGACAGAA	0.418000													50	117					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:26747060G>A	ENST00000529632.2	+	12	2646	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R817H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	817	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547000													4	171					0	0	1	0	0
CLCF1	23529	broad.mit.edu	37	11	67132766	67132766	+	Silent	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:67132766A>T	ENST00000312438.7	-	3	716	c.519T>A	c.(517-519)ccT>ccA	p.P173P	CLCF1_ENST00000533438.1_Silent_p.P163P|CLCF1_ENST00000528474.1_Silent_p.P163P|AP003419.11_ENST00000543494.1_RNA	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	173					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CACTGTGGGCAGGGCCAGGAG	0.642000													14	53					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765025	66765025	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:66765025C>G	ENST00000374690.3	+	1	561	c.37C>G	c.(37-39)Cgg>Ggg	p.R13G	AR_ENST00000396044.3_Missense_Mutation_p.R13G|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.R13G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	13	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGTCTACCCTCGGCCGCCGTC	0.607000									Androgen Insensitivity Syndrome				10	28					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	54					0	0	1	0	0
RBM34	23029	broad.mit.edu	37	1	235295103	235295103	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:235295103T>C	ENST00000408888.3	-	11	1448	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	RBM34_ENST00000495224.1_5'UTR|RBM34_ENST00000366606.3_Silent_p.K401K			P42696	RBM34_HUMAN	RNA binding motif protein 34	406						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GGAGAACAGCTTTTTCTCCAA	0.368000													35	136					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056417	53056417	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:53056417A>G	ENST00000359798.4	+	5	428	c.248A>G	c.(247-249)gAa>gGa	p.E83G		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCAATAGAGAAGTGATCCAC	0.363000													74	354					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21870238	21870238	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr14:21870238C>G	ENST00000399982.2	-	19	4004	c.3940G>C	c.(3940-3942)Gcc>Ccc	p.A1314P	CHD8_ENST00000430710.3_Missense_Mutation_p.A1035P|CHD8_ENST00000557364.1_Missense_Mutation_p.A1314P|CHD8_ENST00000555962.1_5'UTR	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1314					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCCATGATGGCTGCATATGCT	0.378000													18	96					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50659473	50659473	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:50659473C>T	ENST00000268459.3	+	6	668	c.444C>T	c.(442-444)aaC>aaT	p.N148N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	148	EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TTGACAACAACGGCAAGGTCA	0.622000													17	35					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130381184	130381184	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:130381184C>G	ENST00000529410.1	+	12	1242	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Q255E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Q255E			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	255					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATTTTAGCATCAATCCTTTCC	0.368000													5	67					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71056307	71056307	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:71056307C>T	ENST00000283228.2	-	11	2028	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.D281N|PTPRR_ENST00000378778.1_Missense_Mutation_p.D320N|PTPRR_ENST00000549308.1_Missense_Mutation_p.D281N|PTPRR_ENST00000342084.4_Missense_Mutation_p.D414N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	526	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTGTAGTTATCACATTCATTT	0.363000													25	80					0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52451243	52451243	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:52451243C>G	ENST00000545748.1	+	7	2626	c.1631C>G	c.(1630-1632)tCa>tGa	p.S544*	NR4A1_ENST00000550082.1_Nonsense_Mutation_p.S503*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.S490*|NR4A1_ENST00000243050.1_Nonsense_Mutation_p.S490*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.S503*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.S490*			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	490					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGGCCTTCTCAAGGTCCCTG	0.612000													24	62					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119061140	119061140	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:119061140C>T	ENST00000503566.2	-	6	501	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	CCDC153_ENST00000415318.1_Missense_Mutation_p.A168T			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	168										lung(3)|stomach(1)	4						CTCAGCTTGGCCAAGAGCCTG	0.567000													4	101					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284667	223284667	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:223284667T>C	ENST00000540964.1	-	4	2168	c.1707A>G	c.(1705-1707)gtA>gtG	p.V569V	TLR5_ENST00000342210.6_Silent_p.V569V			O60602	TLR5_HUMAN	toll-like receptor 5	569			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CACTAAGTGATACAAATACAT	0.378000													23	92					0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92161777	92161777	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:92161777A>G	ENST00000481551.1	+	3	403	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	RBM48_ENST00000265732.5_Missense_Mutation_p.Y121C			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	121							nucleotide binding										CATGTGTGCTATGCTCCAGAA	0.343000													67	121					0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966607	132966607	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:132966607C>G	ENST00000275216.1	-	1	535	c.536G>C	c.(535-537)aGa>aCa	p.R179T		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	179						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GCAACCTCCTCTGCAGTGAAC	0.373000													8	145					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68419115	68419115	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:68419115G>A	ENST00000396591.3	+	14	2471	c.1861G>A	c.(1861-1863)Gct>Act	p.A621T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	621					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATGGTTCATCGCTGACCCACT	0.403000													5	153					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170800	204170800	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:204170800C>T	ENST00000308302.3	-	3	442	c.257G>A	c.(256-258)gGc>gAc	p.G86D	GOLT1A_ENST00000475517.1_5'UTR	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	86					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CAGGAACATGCCGAGGAGGGG	0.527000													4	126					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7117406	7117406	+	Silent	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:7117406G>T	ENST00000341500.5	-	21	3813	c.3774C>A	c.(3772-3774)cgC>cgA	p.R1258R	INSR_ENST00000302850.5_Silent_p.R1270R	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1270	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCAGCACATGCGCATGAGGT	0.607000													31	42					8.4185e-14	8.93473e-14	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196251476	196251476	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:196251476T>A	ENST00000367433.5	-	23	2737	c.2636A>T	c.(2635-2637)aAg>aTg	p.K879M	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.K903M|KCNT2_ENST00000367431.4_Missense_Mutation_p.K829M			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	903						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATATAATCCTTCACAAATGA	0.313000													12	55					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3481024	3481024	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:3481024C>T	ENST00000174621.6	-	10	1864	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	TRPV1_ENST00000576351.1_Silent_p.V517V|TRPV1_ENST00000399759.3_Silent_p.V527V|TRPV1_ENST00000425167.2_Silent_p.V538V|TRPV1_ENST00000399756.4_Silent_p.V527V|TRPV1_ENST00000571088.1_Silent_p.V527V|SHPK_ENST00000572705.1_Silent_p.V527V|TRPV1_ENST00000310522.5_Silent_p.V467V			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	527					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGTACAGCACCACGGTGGCCA	0.587000													13	5					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566478	41566478	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:41566478C>T	ENST00000263253.7	+	27	5574	c.4355C>T	c.(4354-4356)cCt>cTt	p.P1452L	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1452					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.P1452H(1)|p.P1452L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATTGCCATCCTCCTGACCAG	0.433000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				84	75					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171756	104171756	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:104171756A>C	ENST00000374861.3	+	3	1948	c.1664A>C	c.(1663-1665)aAg>aCg	p.K555T	ZNF189_ENST00000339664.2_Missense_Mutation_p.K569T|ZNF189_ENST00000259395.4_Missense_Mutation_p.K527T	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	569					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACCTTATAAGTGTGAGAAG	0.438000													19	99					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27840415	27840415	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:27840415C>T	ENST00000355467.4	+	13	1455	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Missense_Mutation_p.H381Y|ZNF512_ENST00000556601.1_Missense_Mutation_p.H327Y|ZNF512_ENST00000416005.2_Missense_Mutation_p.H429Y|ZNF512_ENST00000379717.1_Missense_Mutation_p.H457Y			Q96ME7	ZN512_HUMAN	zinc finger protein 512	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TGTCAAGTATCACATCAACTC	0.403000													16	89					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113301	136113301	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:136113301C>T	ENST00000298110.1	-	1	532	c.533G>A	c.(532-534)cGc>cAc	p.R178H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	178						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GAGAGCATTGCGCTCATCAAA	0.587000													33	14					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29485599	29485599	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:29485599A>T	ENST00000182377.4	+	11	1592	c.1324A>T	c.(1324-1326)Aaa>Taa	p.K442*	FAR2_ENST00000536681.2_Nonsense_Mutation_p.K442*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.K345*	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	442					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TTTGGGAGTTAAAAAATACTT	0.358000													36	76					0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37876266	37876266	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:37876266C>T	ENST00000356998.3	-	3	599	c.376G>A	c.(376-378)Gag>Aag	p.E126K	MFNG_ENST00000416983.3_Missense_Mutation_p.E112K	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	126					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GTGTCGAACTCAGCAGCCATC	0.597000													21	61					0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29394830	29394830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:29394830G>A	ENST00000377149.1	-	5	1061	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	OR11A1_ENST00000377147.2_Nonsense_Mutation_p.Q197*|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Nonsense_Mutation_p.Q197*			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTTGTCACCTGAGCCACTCTG	0.512000													9	38					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475135	120475135	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:120475135G>T	ENST00000355622.6	+	3	830	c.729G>T	c.(727-729)atG>atT	p.M243I	TLR4_ENST00000394487.4_Missense_Mutation_p.M203I|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	243					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TAAATGTAATGAAAACTTGTA	0.348000													74	54					9.98788e-38	1.09091e-37	1	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628270	29628270	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:29628270G>A	ENST00000278882.3	+	6	652	c.272G>A	c.(271-273)tGc>tAc	p.C91Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.C96Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.C91Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTATTAGATGCAATGAAGCA	0.363000													7	182					0	0	1	0	0
FBXO8	26269	broad.mit.edu	37	4	175162265	175162265	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:175162265G>C	ENST00000393674.2	-	4	1423	c.561C>G	c.(559-561)atC>atG	p.I187M	FBXO8_ENST00000503293.1_Missense_Mutation_p.I146M	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	187	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CATCAAGATAGATTCTCAGTT	0.299000													10	63					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383663	33383663	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:33383663T>C	ENST00000374516.3	+	15	1763	c.1492T>C	c.(1492-1494)Tcc>Ccc	p.S498P	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	498					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGCCTCATCTTCCTCAGTTTC	0.567000													4	206					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128927005	128927005	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:128927005T>G	ENST00000356892.3	+	7	956	c.842T>G	c.(841-843)cTg>cGg	p.L281R		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	281	SAM.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TACCAGACACTGGAAGACTTC	0.597000													57	29					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51376671	51376671	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr14:51376671C>G	ENST00000216392.7	-	17	2451	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	PYGL_ENST00000532462.1_Missense_Mutation_p.E707Q|PYGL_ENST00000544180.2_Missense_Mutation_p.E673Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	707					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AACAGGTTCTCTTCCCCAGCT	0.507000													6	319					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998628	173998628	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:173998628A>C	ENST00000457714.1	+	7	2436	c.2007A>C	c.(2005-2007)caA>caC	p.Q669H	NLGN1_ENST00000401917.3_Missense_Mutation_p.Q709H|NLGN1_ENST00000361589.4_Missense_Mutation_p.Q669H|NLGN1_ENST00000545397.1_Missense_Mutation_p.Q669H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	686					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGTGGATCAAAGGGACTACT	0.458000													10	162					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95508575	95508575	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:95508575T>A	ENST00000297591.5	-	18	4439	c.4364A>T	c.(4363-4365)gAa>gTa	p.E1455V	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1455					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTCTCTAGTTCAAGGAACAA	0.373000													90	64					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116767020	116767020	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:116767020G>A	ENST00000375300.1	-	6	819	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	SIK3_ENST00000542607.1_Missense_Mutation_p.R214W|SIK3_ENST00000446921.2_Missense_Mutation_p.R272W|SIK3_ENST00000434315.2_Missense_Mutation_p.R113W|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.R214W			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	214						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ACGCGGGCCCGCAGATTCTGC	0.512000													5	155					0	0	1	0	0
SYCN	342898	broad.mit.edu	37	19	39694707	39694707	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:39694707C>T	ENST00000318438.6	-	1	199	c.188G>A	c.(187-189)gGc>gAc	p.G63D		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	63					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CAGGTCTGCGCCCGACTCCAG	0.667000													8	53					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902354	24902354	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:24902354G>C	ENST00000347898.3	+	9	1451	c.829G>C	c.(829-831)Gga>Cga	p.G277R	SLC5A11_ENST00000565769.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G242R|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G242R|SLC5A11_ENST00000545376.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000539472.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000569071.1_Intron	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	277					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGTCCTATTTGGAATGTCCAT	0.562000													66	180					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646541	48646541	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:48646541A>G	ENST00000352832.5	+	3	742	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	CACNA1G_ENST00000360761.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.I124V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.I124V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	124					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATGACTTCATCTTTGCCTT	0.532000													23	36					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475887	27475887	+	Missense_Mutation	SNP	C	C	T	rs144086944	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:27475887C>T	ENST00000356183.4	-	34	5641	c.5626G>A	c.(5626-5628)Gag>Aag	p.E1876K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1876K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1876						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGGTGCCCTCGGCGTCGGTC	0.692000													29	141					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123412	151123412	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:151123412G>A	ENST00000370328.3	-	9	1335	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	428					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTAGGGGGCTGCTGGGCT	0.607000													16	6					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998954	120998954	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:120998954G>A	ENST00000392793.1	+	9	2539	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K	TECTA_ENST00000264037.2_Silent_p.K756K			O75443	TECTA_HUMAN	tectorin alpha	756	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACATCAACAAGAAGAAGCCCG	0.602000													5	88					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595975	52595975	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:52595975C>T	ENST00000395489.2	-	8	838	c.442G>A	c.(442-444)Gag>Aag	p.E148K	A1CF_ENST00000282641.2_Missense_Mutation_p.E155K|A1CF_ENST00000373997.3_Missense_Mutation_p.E155K|A1CF_ENST00000373995.3_Missense_Mutation_p.E163K|A1CF_ENST00000374001.1_Missense_Mutation_p.E155K|A1CF_ENST00000373993.1_Missense_Mutation_p.E155K|A1CF_ENST00000395495.1_Missense_Mutation_p.E155K	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	155	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTTTCATCTCCGATAAGATT	0.468000													25	369					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330661	7330661	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7330661A>T	ENST00000333870.3	+	3	1425	c.1351A>T	c.(1351-1353)Aat>Tat	p.N451Y	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	451						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACTCAGCCGGAATCCAGGGGG	0.642000													33	32					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323209	79323209	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:79323209C>T	ENST00000428286.1	-	8	4104	c.2904G>A	c.(2902-2904)gaG>gaA	p.E968E	PRUNE2_ENST00000376718.3_Silent_p.E1327E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1327					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGCTTCCTTCTCACTTTCAC	0.522000													33	42					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10461534	10461534	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:10461534G>A	ENST00000525621.1	-	25	4021	c.3540C>T	c.(3538-3540)gcC>gcT	p.A1180A	TYK2_ENST00000264818.6_Silent_p.A1180A|TYK2_ENST00000524462.1_Silent_p.A995A|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1180					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACACTGAAGGGGCCTGGCCTT	0.592000													21	67					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118361956	118361956	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:118361956A>G	ENST00000534358.1	+	14	4765	c.4742A>G	c.(4741-4743)tAt>tGt	p.Y1581C	KMT2A_ENST00000354520.4_Missense_Mutation_p.Y1543C|KMT2A_ENST00000389506.5_Missense_Mutation_p.Y1581C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GATGATGACTATGAGAGTAAG	0.403000													50	55					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135095868	135095868	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:135095868G>T	ENST00000409645.1	+	7	936	c.684G>T	c.(682-684)atG>atT	p.M228I	MGAT5_ENST00000281923.2_Missense_Mutation_p.M228I			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	228					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCTACAGTATGATGAAAAAGC	0.388000													40	81					4.67007e-22	5.02758e-22	1	1	0
KIAA0195	9772	broad.mit.edu	37	17	73487865	73487865	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:73487865C>T	ENST00000314256.7	+	14	1874	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	KIAA0195_ENST00000375248.5_Missense_Mutation_p.P504S|KIAA0195_ENST00000579208.1_Missense_Mutation_p.P145S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	494					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCGAGGCTCCCAAGCCCCC	0.627000													6	67					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146397451	146397451	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:146397451G>C	ENST00000442909.2	+	6	1104	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.E90Q					neuroblastoma breakpoint family, member 12											ovary(2)	2						GAAACAAGCTGAGGAGCTCAG	0.517000													29	368					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931942	11931942	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:11931942G>A	ENST00000571133.1	-	9	1247	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	RSL1D1_ENST00000542106.1_Missense_Mutation_p.S172F	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	392					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						CTTTGCTGGAGACTTCTTTCC	0.438000													5	404					0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176056546	176056546	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:176056546A>G	ENST00000310112.3	-	3	360	c.110T>C	c.(109-111)gTc>gCc	p.V37A	SNCB_ENST00000393693.2_Missense_Mutation_p.V37A|SNCB_ENST00000510387.1_Missense_Mutation_p.V37A|SNCB_ENST00000506696.1_Missense_Mutation_p.V37A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	37	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGTAGAGGACGCCCTCCTT	0.687000													12	24					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													2	4	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gca>gc	p.AA180del	TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													7	164	---	---	---	---					
SLC35G2	80723	broad.mit.edu	37	3	136574081	136574081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:136574081delT	ENST00000446465.2	+	2	1407	c.779delT	c.(778-780)agfs	p.M260fs	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.M260fs|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	260						Golgi apparatus|integral to membrane											GGGTACACCATGACTGTGATG	0.428													227	473	---	---	---	---					
MTHFD1L	25902	broad.mit.edu	37	6	151243429	151243430	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:151243429_151243430delCT	ENST00000367321.3	+	10	1347_1348	c.1073_1074delCT	c.(1072-1074)cfs	p.P358fs		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	358	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCTCTCTCCCCTGTGCCAAGGT	0.510													14	88	---	---	---	---					
NEBL	10529	broad.mit.edu	37	10	21178840	21178845	+	In_Frame_Del	DEL	CTTATC	CTTATC	-	rs71578975	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:21178840_21178845delCTTATC	ENST00000377122.4	-	3	583_588	c.187_192delGATAAG	c.(187-192)del	p.DK63del	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_In_Frame_Del_p.DK63del|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	63					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAAATGTACACTTATCCTTGGACTTT	0.320													24	64	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49434900	49434900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:49434900delG	ENST00000301067.7	-	31	6652	c.6653delC	c.(6652-6654)ctfs	p.P2218fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCAGCCCCAGGACGAGATGA	0.697													10	39	---	---	---	---					
DDIT3	1649	broad.mit.edu	37	12	57911229	57911229	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:57911229delA	ENST00000551116.1	-	3	297	c.30delT	c.(28-30)tafs	p.Y10fs	DDIT3_ENST00000346473.3_Intron|DDIT3_ENST00000552740.1_Frame_Shift_Del_p.Y10fs|DDIT3_ENST00000547303.1_Intron	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	0				FGTLS -> SDTV (in Ref. 1; AAB22646).	cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CATCTGCAGGATAATGGGGAG	0.507			T	FUS	liposarcoma								15	46	---	---	---	---					
PPM1D	8493	broad.mit.edu	37	17	58740401	58740402	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:58740401_58740402insT	ENST00000305921.3	+	6	1538_1539	c.1306_1307insT	c.(1306-1308)accfs	p.T436fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	436					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAGGACCATATACCTGCCCTG	0.406											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	132	117	---	---	---	---					
NPIPB1P	729602	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621																											CTCTTCCCCCGAAAAATGACAA	0.401													3	6	---	---	---	---					
ZNF724P	440519	broad.mit.edu	37	19	23405909	23405909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:23405909delT	ENST00000418100.1	-	4	1255	c.1138delA	c.(1138-1140)ctfs	p.T380fs																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGAGTAAGAGTTGAGGACACG	0.388													9	47	---	---	---	---					
ZNF526	116115	broad.mit.edu	37	19	42728938	42728938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:42728938delA	ENST00000301215.3	+	3	608	c.383delA	c.(382-384)gtfs	p.D128fs		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCACCAGGATGCCCACCTC	0.657													38	106	---	---	---	---					
SEPT5	5413	broad.mit.edu	37	22	19706319	19706319	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19706319delC	ENST00000438754.2	+	1	339	c.59delC	c.(58-60)acfs	p.T20fs	SEPT5_ENST00000455784.2_Intron|SEPT5_ENST00000383045.3_Frame_Shift_Del_p.T20fs|SEPT5_ENST00000490204.1_3'UTR|SEPT5_ENST00000406395.1_Intron	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	0					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCGCCGCGGACCCAGGCCCAG	0.761													2	4	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													7	31	---	---	---	---