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
PLXDC1	57125	broad.mit.edu	37	17	37264406	37264406	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:37264406C>T	ENST00000315392.4	-	5	773	c.562G>A	c.(562-564)Gac>Aac	p.D188N	PLXDC1_ENST00000539608.1_Missense_Mutation_p.D115N|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D148N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D188N	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	188					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGAGTTGTCGGAGTAGCCA	0.522000													17	161					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4859938	4859938	+	Silent	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:4859938G>A	ENST00000221957.4	-	3	341	c.165C>T	c.(163-165)caC>caT	p.H55H	PLIN3_ENST00000592528.1_Silent_p.H55H|PLIN3_ENST00000585479.1_Silent_p.H55H	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	55					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CAGTCTTGATGTGCGGGTAGC	0.637000													8	16					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122805248	122805248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:122805248C>T	ENST00000227349.2	+	5	1396	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	C11orf63_ENST00000531316.1_Nonsense_Mutation_p.R367*	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	367										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTCAAGATTCGAAAGCAGTG	0.468000													9	28					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143798178	143798178	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:143798178C>T	ENST00000264170.4	+	13	1481	c.1223C>T	c.(1222-1224)tCt>tTt	p.S408F	KYNU_ENST00000409512.1_Missense_Mutation_p.S408F	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	408					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATAACATTTTCTGTTCCAAAC	0.408000													6	26					0	0	1	0	0
PLA2R1	0	broad.mit.edu	37	2	160807932	160807932	+	Silent	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:160807932T>C	ENST00000283243.7	-	24	3665	c.3459A>G	c.(3457-3459)acA>acG	p.T1153T	PLA2R1_ENST00000392771.1_Silent_p.T1153T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1153	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GATACTGGTCTGTGATGCTGA	0.433000													17	31					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89628877	89628877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr14:89628877C>A	ENST00000345097.4	-	7	1470	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	FOXN3_ENST00000261302.5_Nonsense_Mutation_p.E452*|FOXN3_ENST00000555353.1_Nonsense_Mutation_p.E430*|FOXN3_ENST00000557258.1_Nonsense_Mutation_p.E430*	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	452					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTTCATCTCCTCATCATCG	0.567000													16	36					1.99824e-07	2.14097e-07	1	1	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	40					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39050325	39050325	+	Missense_Mutation	SNP	C	C	T	rs146225438		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:39050325C>T	ENST00000295373.6	-	17	3227	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1034							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTTGAGGCACGAAGAGAATC	0.428000													17	42					0	0	1	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24464290	24464290	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr14:24464290T>C	ENST00000335125.6	+	3	482	c.356T>C	c.(355-357)gTc>gCc	p.V119A	DHRS4L2_ENST00000382755.4_Missense_Mutation_p.V117A|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.V18A|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.V119A|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.V119A	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		AATGCTGCTGTCAACCCTTTC	0.537000													82	375					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363847	4363847	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:4363847C>T	ENST00000269886.3	-	6	672	c.494G>A	c.(493-495)cGc>cAc	p.R165H	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Missense_Mutation_p.R101H|SH3GL1_ENST00000417295.2_Missense_Mutation_p.R117H	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	165	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AAAGTCCAGGCGGCGGCCCTC	0.622000			T	MLL	AL								36	2					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	86					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50955912	50955912	+	Splice_Site	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr22:50955912G>A	ENST00000395701.3	+	3	360		c.e3+1		NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTGGAAAGAGGTGAGTTCTGC	0.607000													102	75					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307306	39307306	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:39307306A>C	ENST00000541347.1	-	2	934	c.695T>G	c.(694-696)cTg>cGg	p.L232R	CX3CR1_ENST00000358309.3_Missense_Mutation_p.L264R|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L232R|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L232R	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	232					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAGAAGGATCAGTTTAATGGC	0.448000													5	61					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36591677	36591677	+	Missense_Mutation	SNP	G	G	A	rs141094124		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:36591677G>A	ENST00000401500.2	+	23	2802	c.2767G>A	c.(2767-2769)Ggg>Agg	p.G923R	WDR62_ENST00000270301.7_Missense_Mutation_p.G923R	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	923					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCTGGCCGCGGGCACCCCTC	0.607000													18	87					0	0	1	0	0
PLAC1	10761	broad.mit.edu	37	X	133700506	133700506	+	Silent	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chrX:133700506G>A	ENST00000359237.4	-	3	492	c.207C>T	c.(205-207)caC>caT	p.H69H	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	69					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTAGGCGTGTGGCTGAA	0.498000													61	4					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	803576	803576	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:803576G>A	ENST00000347755.5	-	3	448	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	PIDD_ENST00000411829.2_Missense_Mutation_p.R103W|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	103					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										AGTGTGTCCCGGCGTTGCCCT	0.672000													17	0					0	0	1	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81146031	81146031	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:81146031G>A	ENST00000372333.3	-	4	667	c.617C>T	c.(616-618)cCg>cTg	p.P206L	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372336.3_3'UTR			Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	152							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GCAGCCCCTCGGAGTAGCACA	0.697000													7	6					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563682	55563682	+	Silent	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:55563682C>T	ENST00000335605.1	+	1	651	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGATCATCCTCACTTCCTATG	0.478000													21	103					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1256383	1256383	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:1256383T>C	ENST00000540437.1	-	4	592	c.137A>G	c.(136-138)aAt>aGt	p.N46S	CPSF3L_ENST00000435064.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.N40S|CPSF3L_ENST00000419704.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000545578.1_Missense_Mutation_p.N11S	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	40						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CACGTCGTCATTGAAGCCCAT	0.652000													27	64					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860396	16860396	+	Missense_Mutation	SNP	C	C	T	rs148848880		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:16860396C>T	ENST00000524140.2	+	6	1361	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	NWD1_ENST00000552788.1_Missense_Mutation_p.R315C|NWD1_ENST00000549814.1_Missense_Mutation_p.R315C|NWD1_ENST00000379808.3_Missense_Mutation_p.R315C|NWD1_ENST00000523826.1_Missense_Mutation_p.R109C|NWD1_ENST00000339803.6_Missense_Mutation_p.R180C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	315							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTCTGCGGACGCCAGGAACT	0.627000													14	35					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173743491	173743491	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:173743491C>G	ENST00000209884.4	+	9	1479	c.1343C>G	c.(1342-1344)aCc>aGc	p.T448S	KLHL20_ENST00000546011.1_Missense_Mutation_p.T259S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	448					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCTATGAGTACCAGAAGACTA	0.488000													6	210					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			15	2					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100287482	100287482	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:100287482G>T	ENST00000395996.1	+	19	2935	c.2824_splice	c.e19+1	p.G942_splice	VPS13B_ENST00000357162.2_Splice_Site_p.G942_splice|VPS13B_ENST00000358544.2_Splice_Site_p.G942_splice			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	942					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCACAATTCCGGTAAGTACAA	0.333000													17	71					4.7546e-09	5.18684e-09	1	1	0
RNF32	140545	broad.mit.edu	37	7	156447342	156447342	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:156447342G>A	ENST00000392741.2	+	3	435	c.347G>A	c.(346-348)cGc>cAc	p.R116H	RNF32_ENST00000392743.2_Missense_Mutation_p.R116H|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000343665.4_Missense_Mutation_p.R116H|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000317955.5_Missense_Mutation_p.R116H|RNF32_ENST00000432459.2_Missense_Mutation_p.R116H|RNF32_ENST00000311822.8_Missense_Mutation_p.R116H|RNF32_ENST00000405335.1_Missense_Mutation_p.R116H			Q9H0A6	RNF32_HUMAN	ring finger protein 32	116						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GTGAAACAGCGCTCTCTCCTG	0.527000													6	50					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091203	26091203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr6:26091203C>T	ENST00000357618.5	+	2	333	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HFE_ENST00000317896.7_Nonsense_Mutation_p.R71*|HFE_ENST00000461397.1_Nonsense_Mutation_p.R71*|HFE_ENST00000309234.6_Nonsense_Mutation_p.R71*|HFE_ENST00000470149.1_Nonsense_Mutation_p.R71*|HFE_ENST00000336625.8_Nonsense_Mutation_p.R71*|HFE_ENST00000349999.4_Intron|HFE_ENST00000397022.3_Nonsense_Mutation_p.R48*|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000353147.5_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	71	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	p.R71R(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGAGCCCCGAACTCCATG	0.512000									Hemochromatosis				46	57					0	0	1	0	0
LINC00202-2	0	broad.mit.edu	37	10	26939616	26939616	+	RNA	SNP	C	C	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:26939616C>A	ENST00000544033.1	+	0	5549					NR_026794.1																						GGCATACATTCCACCCAGCCG	0.522000													5	42					0.000602214	0.000612421	1	1	0
NAT2	10	broad.mit.edu	37	8	18258041	18258041	+	Silent	SNP	T	T	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:18258041T>A	ENST00000286479.3	+	2	635	c.528T>A	c.(526-528)ctT>ctA	p.L176L	NAT2_ENST00000520116.1_Silent_p.L46L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	176					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AAGAATTTCTTAATTCTCATC	0.383000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				7	54					0	0	1	0	0
HBBP1	0	broad.mit.edu	37	11	5264424	5264424	+	RNA	SNP	A	A	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:5264424A>G	ENST00000454892.1	-	0	72					NR_001589.1																						CGTGAGCATAACAGCTTTTCC	0.488000													3	11					0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45911901	45911901	+	Splice_Site	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:45911901T>C	ENST00000269025.4	+	3	588		c.e3+2			NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTGCAAGGGGTAACTTCTTTC	0.527000													57	3					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325665	158325665	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:158325665G>A	ENST00000444681.2	+	3	670	c.377G>A	c.(376-378)cGt>cAt	p.R126H	CD1E_ENST00000434258.1_Missense_Mutation_p.R223H|CD1E_ENST00000368166.3_Missense_Mutation_p.R36H|CD1E_ENST00000368160.3_Missense_Mutation_p.R225H|CD1E_ENST00000368163.3_Missense_Mutation_p.R225H|CD1E_ENST00000368156.1_Missense_Mutation_p.R135H|CD1E_ENST00000368154.1_Missense_Mutation_p.R36H|CD1E_ENST00000368165.3_Missense_Mutation_p.R135H|CD1E_ENST00000368155.3_Missense_Mutation_p.R135H|CD1E_ENST00000368161.3_Missense_Mutation_p.R225H|CD1E_ENST00000368157.1_Missense_Mutation_p.R36H|CD1E_ENST00000368164.3_Missense_Mutation_p.R36H|CD1E_ENST00000368167.3_Missense_Mutation_p.R225H|CD1E_ENST00000452291.2_Missense_Mutation_p.R36H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	225					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCAGCTT	0.592000													44	51					0	0	1	0	0
SPCS3	60559	broad.mit.edu	37	4	177241254	177241254	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:177241254C>G	ENST00000503362.1	+	1	140	c.27C>G	c.(25-27)aaC>aaG	p.N9K	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	9					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CGCGGGCGAACTCACTGTTCG	0.672000													52	67					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	44					0	0	1	0	0
TRAX	0	broad.mit.edu	37	1	231696874	231696874	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:231696874G>T	ENST00000602962.1	+	5	526	c.367_splice	c.e5-1	p.G123_splice	TSNAX_ENST00000366639.4_Splice_Site_p.G123_splice																							ACGCTTTCAGGACTACAGGAA	0.279000													14	9					7.93312e-07	8.35065e-07	1	1	0
HBBP1	0	broad.mit.edu	37	11	5264422	5264422	+	RNA	SNP	T	T	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:5264422T>A	ENST00000454892.1	-	0	74					NR_001589.1																						TCCGTGAGCATAACAGCTTTT	0.488000													3	12					0	0	1	0	0
PCDHA1	0	broad.mit.edu	37	5	140166141	140166141	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr5:140166141G>A	ENST00000504120.2	+	1	266	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R89Q|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R89Q	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCTCGGATCGATCGC	0.582000													4	152					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10403623	10403623	+	Silent	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr5:10403623C>T	ENST00000274140.5	+	15	1434	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	MARCH6_ENST00000503788.1_Silent_p.Y329Y|MARCH6_ENST00000510792.1_Silent_p.Y132Y|MARCH6_ENST00000449913.2_Silent_p.Y386Y	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	434					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATGTCTTCTACTTTGCCTCCT	0.428000													34	26					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33018126	33018126	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr13:33018126G>T	ENST00000357505.6	-	7	607	c.503C>A	c.(502-504)cCg>cAg	p.P168Q	N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P168Q|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P183Q|N4BP2L2_ENST00000446957.2_Intron	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	179										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTGATCTCCCGGTGTAAGATC	0.383000													3	16					0.150653	0.150653	1	1	0
KLHL22	84861	broad.mit.edu	37	22	20825725	20825725	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr22:20825725C>T	ENST00000328879.4	-	3	461	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	102	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TAGGATTTGGCACATAGCATT	0.502000													15	85					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156784847	156784847	+	Nonsense_Mutation	SNP	G	G	A	rs138414327	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:156784847G>A	ENST00000537611.2	-	2	146	c.100C>T	c.(100-102)Cga>Tga	p.R34*	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	34						integral to membrane|plasma membrane											AACTTCTTTCGCTCAGTGGGA	0.403000													11	34					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56492928	56492928	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:56492928C>T	ENST00000584437.1	-	1	1966	c.11G>A	c.(10-12)gGc>gAc	p.G4D	RNF43_ENST00000583753.1_Missense_Mutation_p.G4D|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.G4D|RNF43_ENST00000407977.2_Missense_Mutation_p.G4D|RNF43_ENST00000577716.1_Missense_Mutation_p.G4D			Q68DV7	RNF43_HUMAN	ring finger protein 43	4						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCTGGTGGCCACCACTCAT	0.572000													58	1					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121531025	121531025	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:121531025C>T	ENST00000305949.1	+	20	2623	c.2578C>T	c.(2578-2580)Cgt>Tgt	p.R860C		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	860	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGCAGCCAGCGTCTCTTTGA	0.353000													37	14					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28822965	28822965	+	Splice_Site	SNP	T	T	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:28822965T>A	ENST00000375664.3	+	2	552		c.e2+2		WAC_ENST00000532233.1_Splice_Site|WAC_ENST00000354911.4_Splice_Site|WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000428935.1_Splice_Site			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCTTACCAGGTACCAGCCGAG	0.662000													8	52					0	0	1	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11426	11426	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chrM:11426G>A	ENST00000361381.2	+	1	667	c.667G>A	c.(667-669)Gcc>Acc	p.223_223insT						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCCATGTCGAAGCCCCCATCG	0.448000													100	2					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74046599	74046599	+	Silent	SNP	G	G	A	rs148814451	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:74046599G>A	ENST00000307877.2	-	9	1148	c.987C>T	c.(985-987)agC>agT	p.S329S	SRP68_ENST00000539137.1_Silent_p.S291S|SRP68_ENST00000355113.5_Silent_p.S228S|SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	329					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TAGTTTCTTCGCTTTCAGCCT	0.517000													81	0					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130383937	130383937	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:130383937G>A	ENST00000358511.6	+	35	6624	c.6593G>A	c.(6592-6594)cGa>cAa	p.R2198Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R2198Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2198	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGACCATTCCGAAGGTACTGT	0.413000													4	5					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								58	32					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80545021	80545021	+	Silent	SNP	G	G	T	rs139592674		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:80545021G>T	ENST00000335255.5	+	8	1833	c.1659G>T	c.(1657-1659)ccG>ccT	p.P553P		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	553					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|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			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGACCACCCCGGTCCAGACGG	0.532000													10	103					3.07112e-06	3.17702e-06	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57528634	57528634	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:57528634C>T	ENST00000420713.1	+	4	579	c.467C>T	c.(466-468)aCa>aTa	p.T156I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACAAAACATTTCAGACT	0.323000													4	24					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		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)			CTGGCTTGGCTGTGTGTGTGTC	0.515													7	306	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													3	4	---	---	---	---					
USP49	25862	broad.mit.edu	37	6	41774205	41774205	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr6:41774205delG	ENST00000394253.3	-	3	846	c.517delC	c.(517-519)ggfs	p.R173fs	USP49_ENST00000373009.3_Frame_Shift_Del_p.R173fs|USP49_ENST00000373006.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000373010.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000297229.2_Frame_Shift_Del_p.R173fs			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	173					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTCCTGCCGCCGCTGCTCC	0.731													11	10	---	---	---	---					
WIPF3	644150	broad.mit.edu	37	7	29923822	29923822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:29923822delC	ENST00000409290.1	+	4	712	c.712delC	c.(712-714)ccfs	p.P239fs	WIPF3_ENST00000242140.5_Frame_Shift_Del_p.P239fs|WIPF3_ENST00000409123.1_Frame_Shift_Del_p.P239fs	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	239										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						acccccgctgcccccggcctc	0.706													2	4	---	---	---	---					
RP11-672F9.1	0	broad.mit.edu	37	10	38562340	38562341	+	RNA	INS	-	-	TA	rs146712221	by1000genomes	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:38562340_38562341insTA	ENST00000450980.1	+	0	144																											ctctctctccctATATATATAT	0.520													3	3	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119077179	119077179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:119077179delG	ENST00000264033.4	+	1	428	c.52delG	c.(52-54)ggfs	p.G19fs		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	19					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAGCGGCTCCGGGGGCTCGGG	0.736			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				2	4	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32929088	32929088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr13:32929088delG	ENST00000544455.1	+	14	7325	c.7098delG	c.(7096-7098)ctfs	p.L2366fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.L2366fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2366	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGAACATCTGACTTTGGAAA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			46	49	---	---	---	---					
AP005530.1	0	broad.mit.edu	37	18	11997	11998	+	RNA	INS	-	-	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr18:11997_11998insG	ENST00000572573.1	+	0	405																											AGCGCGCTCCCGGGGGCAGAGG	0.738													5	3	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11071749	11071750	+	RNA	INS	-	-	ACTT	rs141387552		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr21:11071749_11071750insACTT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gctcagtgataacttaaccacc	0.485													3	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11079693	11079693	+	RNA	DEL	T	T	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr21:11079693delT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCAATGCCCtttttttaatt	0.393													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11092870	11092871	+	RNA	INS	-	-	T	rs58400598		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr21:11092870_11092871insT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATAAATTTAAATGCTGGATT	0.376													3	5	---	---	---	---