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
PRRC2A	7916	broad.mit.edu	37	6	31599370	31599370	+	Missense_Mutation	SNP	G	G	C	rs115591494	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:31599370G>C	ENST00000376033.2	+	16	3154	c.2920G>C	c.(2920-2922)Gaa>Caa	p.E974Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E974Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	974	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						ACAGGGGGATGAAACCCCCAA	0.612000													22	249					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:57955885C>G	ENST00000334181.4	+	3	1619	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q457E(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423000													7	327					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:196952162G>A	ENST00000367414.5	+	2	334	c.278G>A	c.(277-279)cGc>cAc	p.R93H	CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 2.				complement activation, alternative pathway	extracellular region		p.R69H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393000													5	402					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954482	30954482	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:30954482C>T	ENST00000376296.3	+	2	771	c.530C>T	c.(529-531)gCc>gTc	p.A177V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	177	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGGCCAGCACAGCC	0.617000													15	2310					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43649279	43649279	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:43649279C>T	ENST00000264663.5	+	11	1696	c.1475C>T	c.(1474-1476)gCg>gTg	p.A492V	NNT_ENST00000512996.2_Missense_Mutation_p.A361V|NNT_ENST00000344920.4_Missense_Mutation_p.A492V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	492					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TTGGGCATTGCGGCTCCCAAT	0.488000													9	1132					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317858	77317858	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:77317858T>C	ENST00000282849.5	-	23	4079	c.3661A>G	c.(3661-3663)Atc>Gtc	p.I1221V	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1221	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAAGATCAGATCTTCCTTGTG	0.512000													15	267					0	0	1	0	0
PLEKHA8P1	0	broad.mit.edu	37	12	45568140	45568140	+	RNA	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:45568140T>C	ENST00000256692.5	-	0	545					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTCTTAGTTCTGACATTT	0.448000													96	607					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34236101	34236101	+	RNA	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:34236101C>T	ENST00000587132.1	-	0	1926																											AATACACAGGCGGTTGAGCTA	0.507000													18	77					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171246	214171246	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:214171246C>T	ENST00000366958.4	+	2	1976	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	PROX1_ENST00000261454.4_Silent_p.A456A|PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	456				PAA -> LV (in Ref. 1; AAC50656).	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGGCCCTGCCGCTGGCGGCC	0.642000													5	431					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100027216	100027216	+	Silent	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:100027216A>C	ENST00000258428.3	-	14	2514	c.2286T>G	c.(2284-2286)ccT>ccG	p.P762P	REV1_ENST00000393445.3_Silent_p.P761P|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	762					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGAGCCCCAGGCTTTCGTA	0.398000								Direct reversal of damage					100	401					0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150584969	150584969	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:150584969C>G	ENST00000355417.2	-	2	290	c.116G>C	c.(115-117)gGg>gCg	p.G39A	CCDC69_ENST00000521308.1_Intron	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	39										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGTGTCCCCATTGAGGGG	0.517000													52	174					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745137	50745137	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:50745137C>T	ENST00000300589.2	+	4	1420	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	439	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAGTACATCCGCACCGAGTT	0.622000													78	243					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	178					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170325	63170325	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:63170325A>C	ENST00000399298.3	-	6	1230	c.862T>G	c.(862-864)Ttc>Gtc	p.F288V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	288						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCGGCAAAGAACACCAGCATC	0.507000													44	153					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105204334	105204334	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:105204334G>A	ENST00000257700.2	+	12	2057	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGTTGACCCGTCAAGTAGAC	0.388000													73	212					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													5	179					0.014758	0.0149766	1	1	0
NEU4	129807	broad.mit.edu	37	2	242757458	242757458	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:242757458G>A	ENST00000391969.2	+	5	1250	c.539G>A	c.(538-540)cGc>cAc	p.R180H	NEU4_ENST00000405370.1_Missense_Mutation_p.R180H|NEU4_ENST00000407683.1_Missense_Mutation_p.R180H|NEU4_ENST00000404257.1_Missense_Mutation_p.R192H|NEU4_ENST00000325935.6_Missense_Mutation_p.R193H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	180						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TACACCTACCGCGTGGACCGC	0.677000													25	96					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99879303	99879303	+	Silent	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:99879303G>A	ENST00000421999.2	+	3	329	c.183G>A	c.(181-183)aaG>aaA	p.K61K	CMSS1_ENST00000489081.1_Silent_p.K43K	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		TACAACCAAAGGAAAGAAAAG	0.308000													13	63					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19491395	19491395	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:19491395C>T	ENST00000375267.2	-	32	4412	c.4409G>A	c.(4408-4410)cGc>cAc	p.R1470H	UBR4_ENST00000375226.2_Missense_Mutation_p.R1470H|UBR4_ENST00000375254.3_Missense_Mutation_p.R1470H|UBR4_ENST00000375217.2_Missense_Mutation_p.R1470H			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1470					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1470H(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTAGTCATGCGGGTGAGCCA	0.557000													5	357					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154557660	154557660	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:154557660A>C	ENST00000409663.3	+	35	4814	c.4762A>C	c.(4762-4764)Act>Cct	p.T1588P	KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1505P|KIAA0922_ENST00000409959.3_Missense_Mutation_p.T1589P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1588						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGACATATGGACTACCACAGC	0.443000													18	368					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:169510502G>T	ENST00000367796.3	-	13	4042	c.3841C>A	c.(3841-3843)Ctt>Att	p.L1281I	F5_ENST00000367797.3_Missense_Mutation_p.L1276I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502000													17	1603					5.50884e-06	5.89618e-06	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													4	137					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64419602	64419602	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:64419602G>A	ENST00000265459.6	-	13	2902	c.2441C>T	c.(2440-2442)gCg>gTg	p.A814V	NRXN2_ENST00000409571.1_Missense_Mutation_p.A807V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A774V|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Missense_Mutation_p.A814V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	814	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGTGCCCCGCAAACAGCGT	0.572000													27	88					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157769869	157769869	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:157769869C>T	ENST00000358292.3	-	6	944	c.893G>A	c.(892-894)cGt>cAt	p.R298H	FCRL1_ENST00000491942.1_Missense_Mutation_p.R337H|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R337H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	337						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGGCTGAACGTCTTCCTGA	0.408000													8	396					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14291189	14291189	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:14291189C>T	ENST00000344204.4	+	5	929	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TRIO_ENST00000537187.1_Missense_Mutation_p.A302V|TRIO_ENST00000509967.2_Missense_Mutation_p.A253V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	302					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCAGGCAATGCGGACCTGCAG	0.562000													5	309					0	0	1	0	0
IFITM3	10410	broad.mit.edu	37	11	319946	319946	+	Silent	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:319946G>T	ENST00000399808.4	-	2	530	c.294C>A	c.(292-294)gcC>gcA	p.A98A	IFITM3_ENST00000526811.1_Silent_p.A77A|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.A77A|RP11-326C3.11_ENST00000602756.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	98					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGGCATAGGCCTGGGCCC	0.617000													54	184					1.93748e-29	2.19368e-29	1	1	0
DEDD	9191	broad.mit.edu	37	1	161092295	161092295	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161092295C>T	ENST00000392188.1	-	6	923	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.R200Q|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.R230Q|DEDD_ENST00000458050.2_Missense_Mutation_p.R200Q|DEDD_ENST00000545495.1_Missense_Mutation_p.R200Q			O75618	DEDD_HUMAN	death effector domain containing	200					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R200L(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTATTCAGCCCGAACCCGCAG	0.493000													56	511					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51418535	51418535	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:51418535G>A	ENST00000266037.9	+	53	5661	c.5638G>A	c.(5638-5640)Ggc>Agc	p.G1880S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1880						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTCTGGACGGCAGCAACTC	0.617000													120	286					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29912337	29912337	+	Missense_Mutation	SNP	G	G	T	rs41550912		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912337G>T	ENST00000396634.1	+	7	1297	c.956G>T	c.(955-957)gGa>gTa	p.G319V	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.G319V|HLA-A_ENST00000376806.5_Missense_Mutation_p.G319V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	319					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTTCTCCTTGGAGCTGTGATC	0.592000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			6	265					2.17888e-05	2.2962e-05	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222301271	222301271	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:222301271A>G	ENST00000281821.2	-	13	2235	c.2194T>C	c.(2194-2196)Tct>Cct	p.S732P	EPHA4_ENST00000409938.1_Missense_Mutation_p.S732P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S732P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S681P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	732	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCATCCCAGACCCAATGCCA	0.453000													79	426					0	0	1	0	0
MLK4	0	broad.mit.edu	37	1	233497954	233497954	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:233497954G>T	ENST00000366624.3	+	5	1728	c.1467G>T	c.(1465-1467)gaG>gaT	p.E489D	MLK4_ENST00000366623.3_Missense_Mutation_p.E489D	NM_032435.2	NP_115811.2																					TAAACCAGGAGAAGCCCAAGG	0.478000													9	290					1.12685e-05	1.19673e-05	1	1	0
IGHV4-4	0	broad.mit.edu	37	14	106478456	106478456	+	RNA	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:106478456C>G	ENST00000390596.2	-	0	110																											TCAGAGGCACCTCCCATATCC	0.592000													6	167					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87466772	87466772	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:87466772G>A	ENST00000268616.4	-	3	536	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	107					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTTTTTGTGTGTGATAATCCC	0.343000													4	141					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													6	364					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130272530	130272530	+	Silent	SNP	G	G	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr9:130272530G>C	ENST00000373312.3	-	9	1269	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	FAM129B_ENST00000373314.3_Silent_p.V339V|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	352							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTGGTGGGGACCATCAGGG	0.607000													93	396					0	0	1	0	0
HAUS8	93323	broad.mit.edu	37	19	17173553	17173553	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:17173553T>A	ENST00000253669.5	-	4	374	c.184A>T	c.(184-186)Atg>Ttg	p.M62L	HAUS8_ENST00000448593.2_Missense_Mutation_p.M62L|HAUS8_ENST00000593360.1_Start_Codon_SNP_p.M1L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	62					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCTTCAGACATCTTCCCTCGG	0.537000													19	385					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196176	131196176	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:131196176C>T	ENST00000541194.1	-	2	380	c.123G>A	c.(121-123)acG>acA	p.T41T	PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Silent_p.T39T|PODXL_ENST00000537928.1_Silent_p.T39T|PODXL_ENST00000378555.3_Silent_p.T39T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	39	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TAGATGAGTCCGTAGTAGTCT	0.527000													51	219					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:67980419G>A	ENST00000422611.2	-	17	2404	c.2365C>T	c.(2365-2367)Cgg>Tgg	p.R789W	SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R787W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652000													5	290					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633889	39633889	+	Silent	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:39633889G>A	ENST00000246639.2	-	6	1143	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	KRT35_ENST00000393989.1_Silent_p.A367A			Q92764	KRT35_HUMAN	keratin 35	367	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.A367A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCGGATCTCGGCCAGCTGGG	0.647000													8	322					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148563359	148563359	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:148563359G>A	ENST00000491148.1	+	10	1261	c.927G>A	c.(925-927)atG>atA	p.M309I	CPB1_ENST00000282957.4_Missense_Mutation_p.M309I			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	309					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTCCCAAATGATGATCTACC	0.423000													66	278					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802417	185802417	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:185802417C>T	ENST00000302277.6	+	4	2888	c.2294C>T	c.(2293-2295)tCa>tTa	p.S765L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	765						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGAATGAATCAGAAAGATTC	0.338000													67	264					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													6	614					0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33975451	33975451	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr21:33975451T>A	ENST00000382549.4	-	5	1028	c.686A>T	c.(685-687)aAt>aTt	p.N229I	C21ORF59_ENST00000607686.1_Intron|C21orf59_ENST00000290155.3_Intron|C21orf59_ENST00000540881.1_Missense_Mutation_p.N173I			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TACTGACACATTAAAGCAAAA	0.333000													61	251					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662000													112	417					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													5	215					0	0	1	0	0
IGHV1-58	0	broad.mit.edu	37	14	107078487	107078487	+	RNA	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:107078487G>A	ENST00000390628.2	-	0	297																											ACTTCTGTGCGTAGTTTGTGT	0.542000													138	428					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798099	241798099	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:241798099C>T	ENST00000366553.1	-	1	1133	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	324					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTAAGTATTCTGAAAATGAA	0.343000													15	380					0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270540	113270540	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:113270540G>A	ENST00000303941.3	+	8	1943	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	617							ATP binding|protein serine/threonine kinase activity	p.A617S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGAGCCACGCAAACATGGG	0.637000													14	51					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086476	55086476	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:55086476G>T	ENST00000251377.3	+	5	764	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	LILRA2_ENST00000251376.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D199Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D211Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCTACCCAGTGATCTCCTGGA	0.587000													138	274					1.9732e-51	2.25274e-51	1	1	0
PTPRE	5791	broad.mit.edu	37	10	129877829	129877829	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:129877829G>T	ENST00000254667.3	+	20	2177	c.1898G>T	c.(1897-1899)gGa>gTa	p.G633V	PTPRE_ENST00000419012.2_Missense_Mutation_p.G633V|PTPRE_ENST00000306042.5_Missense_Mutation_p.G575V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	633	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGCAGTGCCGGAGCTGGGCGA	0.483000													67	195					2.72187e-29	3.05652e-29	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158653248	158653248	+	Silent	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:158653248C>A	ENST00000368148.3	-	3	483	c.303G>T	c.(301-303)gtG>gtT	p.V101V	SPTA1_ENST00000368147.3_Silent_p.V101V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	101					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTTTGTTTGCACCTCTGCTT	0.398000													6	680					0.0215528	0.0217112	1	1	0
COLEC12	81035	broad.mit.edu	37	18	335116	335116	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr18:335116G>A	ENST00000400256.3	-	6	1649	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	481	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTCTCACCCGCAGGGCCAGG	0.652000													9	268					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068312	103068312	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:103068312A>G	ENST00000264260.2	+	12	2060	c.1471A>G	c.(1471-1473)Atc>Gtc	p.I491V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.I349V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	491	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGACCCAGTATCTTTGAACT	0.383000													19	407					0	0	1	0	0
FCER1G	2207	broad.mit.edu	37	1	161187859	161187859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161187859C>T	ENST00000289902.1	+	2	158	c.133C>T	c.(133-135)Cga>Tga	p.R45*	FCER1G_ENST00000490414.1_Intron|FCER1G_ENST00000367992.3_Nonsense_Mutation_p.R45*	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	45					platelet activation	integral to plasma membrane				endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	CCTCTACTGTCGACTGAAGGT	0.562000													117	792					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205312363	205312363	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:205312363C>T	ENST00000367156.3	-	5	1186	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A124T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A124T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	124										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGCCTTTGGCCGTGACAGAA	0.597000													6	496					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62129078	62129078	+	Silent	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:62129078G>A	ENST00000217182.3	-	2	204	c.39C>T	c.(37-39)atC>atT	p.I13I	EEF1A2_ENST00000298049.7_Silent_p.I13I	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	13						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGTGGCCGATGACCACGA	0.602000													5	571					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													7	595					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													6	502					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:16285497A>G	ENST00000302182.3	+	2	668	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557000													7	264					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75849902	75849902	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:75849902G>A	ENST00000211998.4	+	10	1392	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	VCL_ENST00000372755.3_Missense_Mutation_p.R433H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	433	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GACATTCTACGTTCCCTTGGG	0.408000													10	393					0	0	1	0	0
PCDHB3	0	broad.mit.edu	37	5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	rs144773246	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		638	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H638Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697000													8	277					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:55587212C>G	ENST00000373965.2	-	33	4723	c.4329G>C	c.(4327-4329)ccG>ccC	p.P1443P	PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gcggcggcggcgggggcgCTG	0.582000										HNSCC(58;0.16)			5	291					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:21806606T>G	ENST00000318220.6	+	14	2151	c.1103T>G	c.(1102-1104)tTt>tGt	p.F368C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 2.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468000													3	56					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77919947	77919947	+	Silent	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:77919947G>A	ENST00000529308.1	+	9	1791	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	USP35_ENST00000441408.2_Silent_p.T96T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T241T|USP35_ENST00000530267.1_Silent_p.T78T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	510					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CATCCTGGACGCCCTGGTTCA	0.622000													130	395					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													9	35					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													7	321					0	0	1	0	0
TRIM51HP	0	broad.mit.edu	37	11	55065679	55065679	+	RNA	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:55065679G>T	ENST00000526016.1	-	0	29					NR_038174.2																						ACTGGGTCTAGGAAGTAGTTC	0.473000													5	241					1.58986e-06	1.71505e-06	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413000													61	144					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553760	19553760	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:19553760G>A	ENST00000409832.3	+	1	396	c.344G>A	c.(343-345)aGc>aAc	p.S115N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCGGCAAGAGCAAAGTGGGC	0.597000													18	2459					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373000													7	225					0.00887093	0.00913773	1	1	0
PROKR1	10887	broad.mit.edu	37	2	68882679	68882679	+	Missense_Mutation	SNP	G	G	A	rs139618486		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:68882679G>A	ENST00000303786.3	+	3	1573	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	PROKR1_ENST00000394342.2_Missense_Mutation_p.E385K			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	385						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTGCCACCGAAGAGGTGGA	0.488000													54	126					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522000													8	1016					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	436628	436628	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:436628A>T	ENST00000338977.5	-	2	1640	c.1592T>A	c.(1591-1593)aTc>aAc	p.I531N	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I543N					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATAAAGGATTGCGGACTG	0.403000													6	568					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110588134	110588134	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:110588134C>T	ENST00000399066.3	-	6	1711	c.984G>A	c.(982-984)agG>agA	p.R328R	SYBU_ENST00000528331.1_Silent_p.R212R|SYBU_ENST00000408889.3_Silent_p.R212R|SYBU_ENST00000424158.2_Silent_p.R336R|SYBU_ENST00000529175.1_Silent_p.R125R|SYBU_ENST00000529690.1_Silent_p.R201R|SYBU_ENST00000446070.2_Silent_p.R330R|SYBU_ENST00000528647.1_Silent_p.R330R|SYBU_ENST00000419099.1_Silent_p.R330R|SYBU_ENST00000440310.1_Silent_p.R331R|SYBU_ENST00000276646.9_Silent_p.R331R|SYBU_ENST00000532779.1_Silent_p.R263R|SYBU_ENST00000533065.1_Silent_p.R212R|SYBU_ENST00000422135.1_Silent_p.R331R|SYBU_ENST00000533895.1_Silent_p.R330R|SYBU_ENST00000433638.1_Silent_p.R331R|SYBU_ENST00000533171.1_Silent_p.R331R|SYBU_ENST00000408908.2_Silent_p.R331R	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	331	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TAATCTCTTTCCTGGCTTCTT	0.488000													18	403					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:47599133C>T	ENST00000533290.1	-	1	1208	c.494G>A	c.(493-495)cGc>cAc	p.R165H	KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140	BACK.							p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517000													6	697					0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47500789	47500789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chrX:47500789G>A	ENST00000247161.3	-	2	151	c.52C>T	c.(52-54)Caa>Taa	p.Q18*	ELK1_ENST00000343894.4_Nonsense_Mutation_p.Q18*|ELK1_ENST00000376983.3_Nonsense_Mutation_p.Q18*|ELK1_ENST00000592066.1_5'UTR	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	18					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CCATTGCCTTGCTCTCTCAGC	0.597000													50	37					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	rs3814301		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612000													8	1353					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955884	57955884	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:57955884C>T	ENST00000334181.4	+	3	1618	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H369H(1)|p.H456H(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCC	0.423000													7	329					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			44	141					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106166509	106166509	+	Silent	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:106166509C>A	ENST00000369704.3	+	15	2348	c.2214C>A	c.(2212-2214)atC>atA	p.I738I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	738										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCGTCTCATCAGCAAGACTG	0.468000													6	553					0.000157383	0.000164592	1	1	0
POU6F2	11281	broad.mit.edu	37	7	39379547	39379547	+	Missense_Mutation	SNP	C	C	T	rs144939808		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:39379547C>T	ENST00000518318.2	+	5	860	c.818C>T	c.(817-819)cCg>cTg	p.P273L	POU6F2_ENST00000403058.1_Missense_Mutation_p.P273L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	273	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tccagccccCCGCAGAAACCT	0.627000													43	184					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29912345	29912345	+	Missense_Mutation	SNP	A	A	G	rs45480495	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912345A>G	ENST00000396634.1	+	7	1305	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.I322V|HLA-A_ENST00000376806.5_Missense_Mutation_p.I322V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	322					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGAGCTGTGATCACTGGAGC	0.587000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	245					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													7	176					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45947827	45947827	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:45947827T>C	ENST00000531526.1	+	8	1048	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.C40R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.C313R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.C313R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.C282R	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	313					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GCGTCTGCCTTGTGTCTGGAA	0.597000													54	286					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103006455	103006455	+	Silent	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:103006455A>G	ENST00000375735.2	+	17	2496	c.2352A>G	c.(2350-2352)ggA>ggG	p.G784G	DYNC2H1_ENST00000398093.3_Silent_p.G784G|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	784	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAGACAGGGACGATTACAAT	0.318000													33	135					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													7	190					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1243542	1243542	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:1243542C>T	ENST00000308624.5	+	11	1011	c.882C>T	c.(880-882)tcC>tcT	p.S294S	SNTG2_ENST00000407292.1_Silent_p.S167S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	294					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTCTCCTTCCGACCAGGTAG	0.473000													27	43					0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47510453	47510453	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:47510453C>G	ENST00000395290.2	-	1	123	c.114G>C	c.(112-114)caG>caC	p.Q38H	CELF1_ENST00000358597.3_Missense_Mutation_p.Q38H|CELF1_ENST00000395292.2_Missense_Mutation_p.Q38H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q65H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q65H|CELF1_ENST00000361904.3_Missense_Mutation_p.Q38H|CELF1_ENST00000310513.5_Missense_Mutation_p.Q38H	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	38	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAGCACCATACTGTTCGAAGA	0.473000													6	684					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29912332	29912332	+	Silent	SNP	C	C	A	rs45451606		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912332C>A	ENST00000396634.1	+	7	1292	c.951C>A	c.(949-951)ctC>ctA	p.L317L	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Silent_p.L317L|HLA-A_ENST00000376806.5_Silent_p.L317L			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	317					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCTGGTTCTCCTTGGAGCTG	0.587000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	281					1.58986e-06	1.71505e-06	1	1	0
INPP5J	27124	broad.mit.edu	37	22	31523352	31523352	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr22:31523352G>A	ENST00000331075.5	+	6	1670	c.1621G>A	c.(1621-1623)Ggt>Agt	p.G541S	INPP5J_ENST00000412277.2_Missense_Mutation_p.G474S|INPP5J_ENST00000405300.1_Missense_Mutation_p.G174S|INPP5J_ENST00000404390.3_Missense_Mutation_p.G173S|INPP5J_ENST00000400294.2_Missense_Mutation_p.G174S			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	541	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GGGTAACAAGGGTGGCGTGAG	0.637000													17	72					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102294648	102294648	+	RNA	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr15:102294648T>C	ENST00000561463.1	+	0	2694																											TTCTCAGAGCTGCTGTCCAAC	0.587000													4	162					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													5	495					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14901766	14901766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:14901766C>A	ENST00000532378.1	-	4	1071	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000334636.5_Nonsense_Mutation_p.E306*			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	306					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATGATGAGTTCACCCACTGAG	0.393000													11	233					1.61879e-10	1.7885e-10	1	1	0
SRCIN1	80725	broad.mit.edu	37	17	36709027	36709027	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:36709027C>T	ENST00000264659.7	-	12	2490	c.2266G>A	c.(2266-2268)Ggc>Agc	p.G756S	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G790S|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	628					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCTCAGGGCCGGGCACCAGC	0.612000													84	262					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494825	220494825	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:220494825A>G	ENST00000373762.3	+	6	912	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000317151.3_Intron|SLC4A3_ENST00000358055.3_Intron|SLC4A3_ENST00000273063.6_Missense_Mutation_p.T215A|SLC4A3_ENST00000373760.2_Intron	NM_005070.3	NP_005061.2	P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	203					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGTGATGGAACCACCGACCT	0.682000													19	146					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082606	152082606	+	Silent	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTCTTCTTCCTGCTGCA	0.582000													8	944					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758862	55758862	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:55758862G>A	ENST00000395863.3	-	4	1379	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Missense_Mutation_p.R292W	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCGTGGACCGGATGCTGCGG	0.637000													106	283					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191773	152191773	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152191773G>C	ENST00000368801.2	-	3	2407	c.2332C>G	c.(2332-2334)Cgt>Ggt	p.R778G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	778					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGACACGGCTAGGAGAG	0.592000													7	423					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134031774	134031774	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:134031774T>C	ENST00000534548.2	-	28	3650	c.3586A>G	c.(3586-3588)Aat>Gat	p.N1196D		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1196					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTATGAAATTCCTCTTCTGA	0.403000													30	100					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41563703	41563703	+	Silent	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:41563703A>G	ENST00000396942.1	-	18	2138	c.2055T>C	c.(2053-2055)gaT>gaC	p.D685D	ANK1_ENST00000352337.4_Silent_p.D685D|ANK1_ENST00000289734.7_Silent_p.D685D|ANK1_ENST00000265709.8_Silent_p.D718D|ANK1_ENST00000396945.1_Silent_p.D685D|ANK1_ENST00000379758.2_Silent_p.D685D|ANK1_ENST00000347528.4_Silent_p.D685D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	685	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGATCAGCACATCTGCCACTG	0.522000													64	187					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													6	231					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12052736	12052736	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:12052736delT	ENST00000235329.5	+	4	622	c.300delT	c.(298-300)gcfs	p.A100fs	MFN2_ENST00000444836.1_Frame_Shift_Del_p.A100fs	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	100					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGAAAGTGGCTTTTTTTGGCC	0.537													10	721	---	---	---	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													7	206	---	---	---	---					
ADAM30	11085	broad.mit.edu	37	1	120436591	120436591	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:120436591delT	ENST00000369400.1	-	1	2527	c.2369delA	c.(2368-2370)agfs	p.K790fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	790					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCCGGTTACTTTTTTTGTTT	0.358													7	1186	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044104	161044106	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161044104_161044106delCCA	ENST00000368012.3	-	6	1360_1362	c.1058_1060delTGG	c.(1057-1062)ggt>g	p.VG353del	PVRL4_ENST00000453926.2_In_Frame_Del_p.VG87del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	353					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGATCACACCCACCACCACCAC	0.606													7	904	---	---	---	---					
DUSP27	92235	broad.mit.edu	37	1	167064080	167064088	+	Translation_Start_Site	DEL	GGTTGTCAT	GGTTGTCAT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:167064080_167064088delGGTTGTCAT	ENST00000361200.2	+	0	160_168				DUSP27_ENST00000443333.1_Start_Codon_Del|DUSP27_ENST00000271385.5_Start_Codon_Del			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)						protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGGTTGGCAGGTTGTCATGGCGACCAGA	0.555													14	68	---	---	---	---					
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:169833511delT	ENST00000367772.4	-	9	1151	c.955_splice	c.e9+1	p.K318_splice	SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice|SCYL3_ENST00000470238.1_5'UTR	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393													9	973	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gct>g	p.EA716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													7	221	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(391-396)aaccccfs	p.NP131fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624													7	925	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													8	569	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													7	310	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													11	375	---	---	---	---					
N4BP2	55728	broad.mit.edu	37	4	40144448	40144449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:40144448_40144449insA	ENST00000261435.6	+	15	5357_5358	c.4941_4942insA	c.(4939-4944)ggaaaafs	p.GK1647fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1647						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATCGGATAGGGAAAAAAAATGT	0.396													7	402	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)gafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome				10	1141	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccc>cc	p.PP131del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													9	874	---	---	---	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaa>ga	p.EE46del	DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML								7	555	---	---	---	---					
BTN2A3P	0	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44																											GGCCAGCCTCCCTCCTCCTCCTC	0.586													15	933	---	---	---	---					
HCP5	0	broad.mit.edu	37	6	31410118	31410118	+	RNA	DEL	G	G	-	rs11367819		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:31410118delG	ENST00000414046.2	+	0	62				XXbac-BPG181B23.4_ENST00000430364.1_lincRNA	NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						ttctttataaGggggggggag	0.463													6	2	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31604005	31604005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:31604005delC	ENST00000376033.2	+	26	5878	c.5644delC	c.(5644-5646)ccfs	p.P1883fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1883						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						CCTATACCTACCCCCCGGCCC	0.522													7	1727	---	---	---	---					
COL11A2	1302	broad.mit.edu	37	6	33139837	33139837	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:33139837delG	ENST00000341947.2	-	41	3259	c.3032delC	c.(3031-3033)ctfs	p.P1011fs	COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P904fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.P925fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P930fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P951fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P985fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P964fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P990fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1011	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCAGGGCCAGGGGGGCCAGA	0.582													7	976	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)del	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													11	162	---	---	---	---					
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)tfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431													8	473	---	---	---	---					
POM121C	100101267	broad.mit.edu	37	7	75070256	75070257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:75070256_75070257insG	ENST00000453279.2	-	5	1066_1067	c.202_203insC	c.(202-204)tgafs	p.*68fs	POM121C_ENST00000257665.5_Frame_Shift_Ins_p.*310fs	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	310	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGCCATCAAGGAATATTTGG	0.460													47	981	---	---	---	---					
TMEM229A	730130	broad.mit.edu	37	7	123672457	123672459	+	In_Frame_Del	DEL	GCT	GCT	-	rs72310362		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:123672457_123672459delGCT	ENST00000455783.1	-	1	1064_1066	c.599_601delAGC	c.(598-603)cgg>c	p.QR200del	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	200						host cell nucleus|integral to membrane	sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(3)	6						GCGCCCCTCCgctgctgctgctg	0.754													5	5	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:73480397delA	ENST00000523207.1	+	2	1016	c.428delA	c.(427-429)cafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGATATCATCAAAAAAAAGAA	0.448													7	540	---	---	---	---					
TP53INP1	0	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gag>ga	p.EE50del	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body		p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													9	244	---	---	---	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:128750605_128750607delCAG	ENST00000377970.2	+	2	652_654	c.142_144delCAG	c.(142-144)del	p.Q52del	MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	292	---	---	---	---					
COL15A1	1306	broad.mit.edu	37	9	101797370	101797371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr9:101797370_101797371insC	ENST00000375001.3	+	18	2577_2578	c.2154_2155insC	c.(2152-2157)ggccccfs	p.GP718fs		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	718	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGTCATGGGACCCCCAGGGCC	0.584													8	415	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559127	56559128	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:56559127_56559128insG	ENST00000394023.3	-	27	3311_3312	c.3206_3207insC	c.(3205-3207)cggfs	p.R1069fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1038	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGAACCCCTGGTGGGACTGC	0.584													7	310	---	---	---	---					
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)del	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635													9	951	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)gctfs	p.A88fs	B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													8	495	---	---	---	---					
HSP90B1	7184	broad.mit.edu	37	12	104326605	104326605	+	Splice_Site	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:104326605delT	ENST00000299767.5	+	4	478	c.294_splice	c.e4-1	p.I99_splice		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	99					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCCATTTAGATTTTCCTGAGA	0.348													144	476	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					13	1087	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs57620493		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388													4	6	---	---	---	---					
RP11-407N17.3	0	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:39746242_39746243insT	ENST00000553728.1	+	6	1986_1987	c.1773_1774insT	c.(1771-1776)ctttttfs	p.LF591fs	CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs																							TTGCTGTTCTCTTTTTTTTGTG	0.371													7	351	---	---	---	---					
OTX2-AS1	0	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													7	56	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)del	p.A856del	BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													8	278	---	---	---	---					
RP11-519G16.3	0	broad.mit.edu	37	15	45755219	45755219	+	RNA	DEL	C	C	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr15:45755219delC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA																							accaccaccaccaccaccacc	0.597													3	4	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)cgcfs	p.R540fs		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytosolic large ribosomal subunit	protein binding|RNA binding	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609													7	208	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577131	7577132	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:7577131_7577132delGC	ENST00000420246.2	-	8	938_939	c.806_807delGC	c.(805-807)afs	p.S269fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S269fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	269	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; 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.S269N(4)|p.S269S(3)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.S269T(2)|p.G262_S269delGNLLGRNS(2)|p.G262_F270delGNLLGRNSF(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.E258fs*71(1)|p.S269R(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.S269>XXXXX(1)|p.G262fs*2(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)		GCACCTCAAAGCTGTTCCGTCC	0.535		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	73	---	---	---	---					
TBC1D3P2	0	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													4	8	---	---	---	---					
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:47883158_47883160delGGA	ENST00000328771.4	+	14	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctg>ct	p.LE966del		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	966						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.660													7	162	---	---	---	---					
ZNF160	90338	broad.mit.edu	37	19	53573085	53573085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:53573085delT	ENST00000601421.1	-	3	1470	c.594delA	c.(592-594)aafs	p.K198fs	ZNF160_ENST00000429604.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000418871.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000599056.1_Frame_Shift_Del_p.K234fs			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	234					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GTTCATGATATTTTTTAGACC	0.368													7	490	---	---	---	---					
DSTN	11034	broad.mit.edu	37	20	17581488	17581489	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:17581488_17581489insT	ENST00000246069.6	+	2	455_456	c.109_110insT	c.(109-111)tttfs	p.F37fs	DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	37	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAGGCTGTCATTTTTTGTCTC	0.386													9	408	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcg>gc	p.AL139del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	139	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													7	363	---	---	---	---