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
PLXNA4	91584	broad.mit.edu	37	7	131844259	131844259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:131844259G>A	ENST00000359827.3	-	25	5595	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W			Q9HCM2	PLXA4_HUMAN	plexin A4	1545						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTTGGGCCGGTGGGAGCAA	0.557000													7	863					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													8	339					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69082833	69082833	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:69082833C>T	ENST00000229179.4	+	2	432	c.100_splice	c.e2+1	p.L34_splice	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	34					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGAGTTTTACGTATCCTTTG	0.378000													9	170					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91454724	91454724	+	Missense_Mutation	SNP	G	G	A	rs146632780	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:91454724G>A	ENST00000360468.3	+	13	2071	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	MAN2A2_ENST00000431652.2_Missense_Mutation_p.V193M|MAN2A2_ENST00000559717.1_Missense_Mutation_p.V685M	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	685					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCCCCTGGCCGTGCAGATCAG	0.647000													4	233					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													13	288					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36930968	36930968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:36930968G>A	ENST00000373674.3	+	5	1178	c.850G>A	c.(850-852)Gta>Ata	p.V284I	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	284						extracellular region|integral to membrane	peptidase inhibitor activity	p.V284I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCACCTTGCGTAACAACTGA	0.567000													23	286					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84652654	84652654	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:84652654G>A	ENST00000393868.2	-	8	1109	c.899C>T	c.(898-900)gCc>gTc	p.A300V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	300					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AATTGCCCCGGCATGACCCAT	0.473000													5	629					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28518096	28518096	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:28518096G>C	ENST00000261609.7	-	8	963	c.855C>G	c.(853-855)gaC>gaG	p.D285E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	285					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAAGTGCTGGTCCTGCAGGG	0.612000													5	221					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852910	15852910	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:15852910G>A	ENST00000305892.1	+	1	708	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGAGGGCCGGCACAAGACTT	0.502000													5	681					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458000													5	246					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641797	142641797	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:142641797G>A	ENST00000355265.2	-	12	1820	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	449					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTGATGAGGGCATCCCGGAT	0.617000													4	195					0	0	1	0	0
MIR329-1	0	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr14:101493161A>T	ENST00000385028.1	+	0	40					NR_029967.1																						TGTTTCTTTAATGAGGACGAA	0.468000													8	823					0	0	1	0	0
RP11-640M9.2	0	broad.mit.edu	37	1	144598726	144598726	+	RNA	SNP	A	A	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:144598726A>C	ENST00000419820.1	+	0	654																											CATTCGGTGCACCAAGAGCAA	0.572000													15	91					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633162	633162	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:633162G>A	ENST00000026218.5	+	10	1899	c.1811G>A	c.(1810-1812)gGc>gAc	p.G604D	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	604					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCTGAACACGGCAGGCCCTGC	0.642000													5	652					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53555118	53555118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:53555118C>T	ENST00000025008.5	-	18	4653	c.4130G>A	c.(4129-4131)cGt>cAt	p.R1377H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1377H|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1377H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1377					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCAAGCAAACGAGCTCGATC	0.358000													16	343					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	A	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:39274343A>G	ENST00000391413.2	-	1	263	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657000													5	271					0	0	1	0	0
RPS12	6206	broad.mit.edu	37	6	133138134	133138134	+	Silent	SNP	C	C	G	rs146638149		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358000													5	259					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	453					0	0	1	0	0
UGT1A3	0	broad.mit.edu	37	2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGCCAACAGGAAGCCACT	0.438000													18	651					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													18	105					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120769305	120769305	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:120769305C>T	ENST00000527524.2	+	12	1516	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	GRIK4_ENST00000438375.2_Missense_Mutation_p.S410L			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	410					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCCAACATCTCGGACACTCTC	0.612000													7	139					0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37209707	37209707	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:37209707C>T	ENST00000216200.5	-	4	342	c.287G>A	c.(286-288)gGc>gAc	p.G96D	PVALB_ENST00000404171.1_Missense_Mutation_p.G64D|PVALB_ENST00000417718.2_Missense_Mutation_p.G96D	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	96	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						CCCAATTTTGCCGTCCCCATC	0.512000													8	954					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													6	503					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:22940373T>C	ENST00000397104.3	-	5	2064	c.2065A>G	c.(2065-2067)Aag>Gag	p.K689E	ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E					zinc finger protein 99									p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343000													5	339					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82421570	82421570	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:82421570G>A	ENST00000370728.1	+	13	2476	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	LPHN2_ENST00000370715.1_Missense_Mutation_p.D598N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D611N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D536N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D598N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D598N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D598N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.D611N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D598N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D598N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D611N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D611N			O95490	LPHN2_HUMAN	latrophilin 2	611					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCAATTGTTGACACAGTGGA	0.358000													20	320					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35660888	35660888	+	Silent	SNP	G	G	A	rs148445726		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:35660888G>A	ENST00000216106.5	+	5	635	c.507G>A	c.(505-507)tcG>tcA	p.S169S	HMGXB4_ENST00000444518.2_Silent_p.S60S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	169					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCACAAATCGAAAAAAATGA	0.463000													16	412					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998573	72998573	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:72998573A>G	ENST00000322038.5	+	2	1660	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	TSHZ1_ENST00000580243.1_Missense_Mutation_p.Y404C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	404						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCGCCAGCTACACCTGGCAG	0.612000													4	197					0	0	1	0	0
LHB	3972	broad.mit.edu	37	19	49519935	49519935	+	Missense_Mutation	SNP	C	C	T	rs146354951	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49519935C>T	ENST00000221421.2	-	2	51	c.52G>A	c.(52-54)Gca>Aca	p.A18T		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	18			A -> T (more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775).		cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	p.A18T(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	GATGCCCATGCCCCGCCCATG	0.647000													5	340					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10671101	10671101	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:10671101G>A	ENST00000312962.6	-	9	724	c.705C>T	c.(703-705)aaC>aaT	p.N235N	KRI1_ENST00000361821.5_Silent_p.N231N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	235	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTCAGGGTCGTTCCAGTATT	0.552000													39	488					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74968164	74968164	+	Missense_Mutation	SNP	G	G	A	rs138556118		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr14:74968164G>A	ENST00000261978.4	-	35	5686	c.5300C>T	c.(5299-5301)gCg>gTg	p.A1767V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1767	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CATGTGGGCCGCATCCAGCTG	0.617000											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	570					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754256	32754256	+	Silent	SNP	G	G	A	rs61729170	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537000													5	477					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1415695	1415695	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:1415695G>A	ENST00000446702.2	+	16	2660	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D	CNTN6_ENST00000350110.2_Missense_Mutation_p.G678D|CNTN6_ENST00000539053.1_Missense_Mutation_p.G606D			Q9UQ52	CNTN6_HUMAN	contactin 6	678	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G678D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTGTTGCCGGCAACAGCATT	0.383000													5	383					0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47195677	47195677	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:47195677G>A	ENST00000320640.6	-	16	1873	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	ITFG1_ENST00000544001.2_Missense_Mutation_p.H436Y|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	549						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GGGACATTGTGAGGGTATGGA	0.373000													24	429					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295522	62295522	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:62295522C>T	ENST00000378024.4	-	5	6641	c.6367G>A	c.(6367-6369)Gac>Aac	p.D2123N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2123					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGTAAGTCCACATCAGGC	0.522000													7	1326					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													6	357					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166318	161166318	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:161166318A>T	ENST00000367995.3	-	2	1411	c.986T>A	c.(985-987)aTg>aAg	p.M329K	ADAMTS4_ENST00000367996.4_Intron			O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	0	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			tgtgcagtgcatggcctgcGG	0.562000													19	313					0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131708515	131708515	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:131708515C>T	ENST00000372586.3	-	1	1383	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	356					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						AGAGCAGTGGCCGGTCAAAGA	0.547000													7	714					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													4	68					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428000													6	607					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428000													5	551					0.0381472	0.0387041	1	1	0
ZNF781	163115	broad.mit.edu	37	19	38160168	38160168	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:38160168C>A	ENST00000358582.4	-	4	1630	c.882G>T	c.(880-882)ttG>ttT	p.L294F	ZNF781_ENST00000590008.1_Missense_Mutation_p.L294F|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GGACAGGAGACAAAAACCTTC	0.383000													25	421					9.57634e-11	1.03993e-10	1	1	0
AQP9	366	broad.mit.edu	37	15	58471472	58471472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:58471472C>T	ENST00000219919.4	+	5	1011	c.641C>T	c.(640-642)gCc>gTc	p.A214V	AQP9_ENST00000536493.1_Missense_Mutation_p.A214V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.A149V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	214					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGTGGCTGTGCCATGAACCCA	0.557000													4	206					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248495	49248495	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49248495G>A	ENST00000332955.2	-	3	833	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	96					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCTGTGATGCGTTTCAGATCC	0.507000													13	283					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000													7	648					0	0	1	0	0
TP53I13	90313	broad.mit.edu	37	17	27898646	27898646	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:27898646A>T	ENST00000301057.7	+	4	336	c.221A>T	c.(220-222)cAt>cTt	p.H74L	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	74						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CCCTGTGCCCATCCCTGGCTG	0.577000													9	277					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98349783	98349783	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:98349783G>A	ENST00000264972.5	+	7	1029	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A146T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	272	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CACACTCCCAGCCCACCCATC	0.706000													9	113					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103868035	103868035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:103868035C>T	ENST00000361198.5	-	11	1566	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	LDB1_ENST00000425280.1_Missense_Mutation_p.G351R	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	351					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCCTCGTCCCCGAACTCCCCG	0.632000													9	215					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													11	108					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													6	300					0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105412405	105412405	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:105412405C>T	ENST00000394767.2	-	2	1005	c.555G>A	c.(553-555)ccG>ccA	p.P185P	CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Silent_p.P16P	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	16					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ACGGCTCTGGCGGGCAGCCAG	0.627000													6	886					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	5004223	5004223	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:5004223C>G	ENST00000380051.2	-	1	58	c.14G>C	c.(13-15)cGc>cCc	p.R5P	RPP40_ENST00000319533.5_Missense_Mutation_p.R5P	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	5					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCGAAGCCGGCGCAGCGTGGC	0.697000											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	213					0	0	1	0	0
SNRPE	6635	broad.mit.edu	37	1	203831342	203831342	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:203831342T>A	ENST00000414487.2	+	2	118	c.73T>A	c.(73-75)Tta>Ata	p.L25I	SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	25					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCAGATACTTACAAAATGT	0.403000													13	358					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307881	117307881	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:117307881G>A	ENST00000321322.6	-	26	4858	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	DSCAML1_ENST00000527706.1_Silent_p.C1349C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1559					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.C1619C(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTCATTGCCGCAGCCCGCAC	0.632000													6	399					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													10	940					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													7	73					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99565782	99565782	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:99565782C>T	ENST00000411734.1	-	3	605	c.600G>A	c.(598-600)cgG>cgA	p.R200R	AZGP1_ENST00000292401.4_Silent_p.R203R			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	203					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAGTACCTTGCCGGTCCAGGA	0.532000													5	279					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4163864	4163864	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:4163864C>T	ENST00000294016.3	-	2	2118	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	527					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGAACTTTGCCGGCCACTCC	0.522000													5	536					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGGGCAGCGCATCCCCAGT	0.473000													5	279					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:135614834C>T	ENST00000520727.1	-	7	1391	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552000													5	381					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228564115	228564115	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:228564115T>C	ENST00000258403.3	-	3	387	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	SLC19A3_ENST00000541617.1_Missense_Mutation_p.M102V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	106					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.M106V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACAACCTGCATGGTCTTCACT	0.527000													7	597					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													6	64					0.00307968	0.00314761	1	1	0
IRF2	3660	broad.mit.edu	37	4	185329365	185329365	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:185329365G>A	ENST00000393593.3	-	6	683	c.476C>T	c.(475-477)gCg>gTg	p.A159V	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	159					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AGTCAGGACCGCATACTCAGG	0.393000													5	462					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30521098	30521098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:30521098G>A	ENST00000358365.3	+	11	1068	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RHOT1_ENST00000581094.1_Missense_Mutation_p.D281N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D154N|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.D281N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D281N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D260N|RHOT1_ENST00000333942.6_Missense_Mutation_p.D281N	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	281					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGATGACCTGGATTTGACACC	0.363000													21	1707					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	60					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			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)			GCCCAGGACGCGCCTGGGGAA	0.542000													21	371					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:39296158G>A	ENST00000345847.4	-	1	581	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000													5	38					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	rs142651314	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:21606468C>T	ENST00000392288.2	+	4	1116	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348000													7	446					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13140072	13140072	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:13140072G>A	ENST00000319217.7	-	28	4164	c.3917C>T	c.(3916-3918)gCc>gTc	p.A1306V	MPDZ_ENST00000381015.4_Missense_Mutation_p.A1306V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1306V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1306V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1320V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A165V|MPDZ_ENST00000540202.1_5'UTR	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1306					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCCATTTCGGCAAAGGCTGA	0.493000													6	598					0	0	1	0	0
MYL3	4634	broad.mit.edu	37	3	46904790	46904790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:46904790G>A	ENST00000395869.1	-	1	142	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYL3_ENST00000292327.4_Missense_Mutation_p.R31C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	31					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCCTTAGGGCGCTCAGGCTCA	0.602000													5	443					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													7	366					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	452					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													4	97					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125871630	125871630	+	Silent	SNP	G	G	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:125871630G>C	ENST00000392693.3	-	11	2269	c.2142C>G	c.(2140-2142)tcC>tcG	p.S714S	CDON_ENST00000263577.7_Silent_p.S714S|CDON_ENST00000531738.1_Silent_p.S91S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	714					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTGCCTAGAGGAATCTGTAA	0.433000													17	342					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													5	413					1.06961e-07	1.13493e-07	1	1	0
SFMBT1	51460	broad.mit.edu	37	3	52940182	52940182	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:52940182G>A	ENST00000394752.3	-	20	2789	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	SFMBT1_ENST00000296295.6_Intron|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	803	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGAACCGCACAACGTCT	0.418000													5	337					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793127	31793127	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:31793127G>A	ENST00000396193.1	-	19	2774	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PDE1C_ENST00000321453.7_Silent_p.Y667Y|PDE1C_ENST00000396191.1_Silent_p.Y667Y	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	667					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTAGATGCGTAAGCAGGGC	0.478000													5	374					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282688	152282688	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:152282688C>T	ENST00000368799.1	-	3	4709	c.4674G>A	c.(4672-4674)ggG>ggA	p.G1558G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1558	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGACGTGACCCTGAGTGCC	0.592000									Ichthyosis				59	1262					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_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)			19	308					0	0	1	0	0
CCNG1	900	broad.mit.edu	37	5	162868135	162868135	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:162868135G>A	ENST00000340828.2	+	3	540	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.V106I|AC112205.1_ENST00000599797.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	106					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TTATTTGGCTGTAAAATCAAT	0.393000													6	391					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86311613	86311613	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:86311613C>T	ENST00000337975.5	-	2	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.E477K	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	477						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGGGGGCACTCGGCCTTGATC	0.612000													23	475					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													8	207					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27066110	27066110	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr21:27066110G>T	ENST00000480456.1	+	4	834	c.284G>T	c.(283-285)cGg>cTg	p.R95L	JAM2_ENST00000312957.5_Missense_Mutation_p.R95L|JAM2_ENST00000400532.1_Missense_Mutation_p.R95L|JAM2_ENST00000425221.2_Missense_Mutation_p.R59L	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	95	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAATATCCGGATCAAAAAT	0.378000													9	230					1.58986e-06	1.64919e-06	1	1	0
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:12541141C>T	ENST00000301547.5	-	4	2042	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	615					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403000													5	390					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909720	32909720	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:32909720C>T	ENST00000304056.4	-	4	1808	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370								p.R370H(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGCTTTATGCGGACAAAAAG	0.428000													5	517					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													16	186					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													10	169					0	0	1	0	0
AC006293.3	0	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350																											TACAGATGCTACGGTGCACAC	0.677000													5	267					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48604703	48604703	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:48604703T>G	ENST00000342988.3	+	12	2063	c.1525T>G	c.(1525-1527)Tgg>Ggg	p.W509G	SMAD4_ENST00000588745.1_Missense_Mutation_p.W413G|SMAD4_ENST00000398417.2_Missense_Mutation_p.W509G|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	509	MH2.				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.?(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)		TGTGAAAGGCTGGGGACCGGA	0.473000													20	253					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													5	419					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													9	256					3.09899e-07	3.26333e-07	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627000													6	552					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115217379	115217379	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:115217379T>A	ENST00000369538.3	-	12	1928	c.1881A>T	c.(1879-1881)ttA>ttT	p.L627F	AMPD1_ENST00000520113.2_Missense_Mutation_p.L631F|AMPD1_ENST00000353928.6_Missense_Mutation_p.L598F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	598					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L598F(2)|p.L631F(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACCTTTTTTAAATTTAGGC	0.418000													10	309					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21795227	21795227	+	Silent	SNP	T	T	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:21795227T>A	ENST00000318220.6	+	6	1060	c.12T>A	c.(10-12)tcT>tcA	p.S4S	NBPF3_ENST00000318249.5_Silent_p.S60S|NBPF3_ENST00000342104.5_Silent_p.S60S|NBPF3_ENST00000454000.2_Intron			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	60						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)		TGGTGGTATCTGCCGGCCCTT	0.512000											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	703					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	by1000genomes	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:90161753T>C	ENST00000567960.1	+	0	489				TUBB8P7_ENST00000564451.1_RNA																							CAGACAGGATTATAAACACAT	0.562000													6	294					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	556535	556535	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:556535C>T	ENST00000437048.2	-	7	750	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E173K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.E202K	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	202					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GTTTACCTTTCGGAAAGCTGC	0.483000													5	859					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													5	265					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227663	39227663	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:39227663C>T	ENST00000340369.3	-	2	3502	c.3274G>A	c.(3274-3276)Ggt>Agt	p.G1092S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCCGAAGACCGTCCTGGATG	0.602000													14	331					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496126	76496126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:76496126G>A	ENST00000388942.3	+	11	1342	c.1066G>A	c.(1066-1068)Gca>Aca	p.A356T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	356						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CACCACGGCCGCAATAGACAT	0.602000													6	568					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773981	58773981	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:58773981C>G	ENST00000269829.4	+	7	2483	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	ZNF544_ENST00000596652.1_Nonsense_Mutation_p.S670*|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.S528*|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.S642*|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.S642*	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAAGCCTTTTCAGGGAGCTCT	0.453000													10	692					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7137472	7137472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:7137472C>T	ENST00000005340.5	-	1	392	c.110G>A	c.(109-111)cGc>cAc	p.R37H	DVL2_ENST00000575458.1_Missense_Mutation_p.R37H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	37	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GAGGGTGATGCGCTCGGCGGG	0.602000													6	802					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	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													9	277	---	---	---	---					
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgc>tg	p.CL132del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	132					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													8	241	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													11	762	---	---	---	---					
TNNI3K	51086	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCTCTCACCTTCTTCTTCTTC	0.473													7	899	---	---	---	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	37					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													15	309	---	---	---	---					
CDC7	8317	broad.mit.edu	37	1	91967356	91967357	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:91967356_91967357insA	ENST00000428239.1	+	2	342_343	c.83_84insA	c.(82-84)taafs	p.*28fs	CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAACG	0.406													7	464	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				22	70	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								11	577	---	---	---	---					
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)ttfs	p.F526fs		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													8	974	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				8	411	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													12	449	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:71801420_71801422delCCG	ENST00000258104.3	+	30	3544_3546	c.3267_3269delCCG	c.(3265-3270)ttc>tt	p.FR1089del	DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1089	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655													8	824	---	---	---	---					
GORASP2	26003	broad.mit.edu	37	2	171822424	171822424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:171822424delA	ENST00000234160.4	+	10	1958	c.1143delA	c.(1141-1143)ggfs	p.G381fs	GORASP2_ENST00000452526.2_Frame_Shift_Del_p.G393fs	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	381						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAAGCTCAGGAGAGCTGCTGT	0.602													13	328	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411													7	57	---	---	---	---					
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgg>cg	p.RE218del	EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	218							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547													8	482	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:53529193_53529195delGAT	ENST00000288139.3	+	0	118_120				CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													10	498	---	---	---	---					
LINC00698	0	broad.mit.edu	37	3	63083094	63083096	+	RNA	DEL	CTG	CTG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:63083094_63083096delCTG	ENST00000468072.1	+	0	125					NR_027104.1																						TCCGAGCCGTCTGCTGCTGCTGC	0.562													7	568	---	---	---	---					
OR5H1	26341	broad.mit.edu	37	3	97851842	97851842	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:97851842delT	ENST00000354565.2	+	1	301	c.301delT	c.(301-303)ttfs	p.F102fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CAAGATACAGTTTTTTTCGTT	0.393													8	1260	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													7	616	---	---	---	---					
RP11-3P17.4	0	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													13	77	---	---	---	---					
MCF2L2	23101	broad.mit.edu	37	3	182897467	182897467	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:182897467delA	ENST00000328913.3	-	29	3416	c.3119delT	c.(3118-3120)tcfs	p.F1040fs	MCF2L2_ENST00000473233.1_Frame_Shift_Del_p.F1040fs	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1040					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTCCGACTGGAAAAGGCCCGC	0.597													7	641	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													10	95	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													14	37	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													8	197	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	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													11	869	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													11	905	---	---	---	---					
BTN2A3P	0	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44																											GGCCAGCCTCCCTCCTCCTCCTC	0.586													9	410	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)caa>ca	p.QQ102del	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	102	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													9	246	---	---	---	---					
RNF5	6048	broad.mit.edu	37	6	32148080	32148080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:32148080delT	ENST00000375094.3	+	6	678	c.520delT	c.(520-522)ttfs	p.F175fs	RNF5_ENST00000427134.2_Intron	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	175					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						CATCTTCTTCTTTTTTTGGCT	0.537													7	597	---	---	---	---					
TULP1	7287	broad.mit.edu	37	6	35478775	35478777	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:35478775_35478777delTCC	ENST00000229771.6	-	5	439_441	c.360_362delGGA	c.(358-363)gaa>ga	p.EE122del	TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	122	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						gtcctcctcttcctcctcctcct	0.567													7	401	---	---	---	---					
SLC26A8	116369	broad.mit.edu	37	6	35912065	35912065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:35912065delT	ENST00000490799.1	-	20	2878	c.2525delA	c.(2524-2526)atfs	p.N842fs	SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N842fs	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	842	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGACTTACATTTTTTTGGCT	0.398													8	404	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctc>ct	p.LC138del				Q99750	MDFI_HUMAN	MyoD family inhibitor	199					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													7	469	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45296445	45296446	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:45296445_45296446insA	ENST00000352853.5	+	2	186_187	c.186_187insA	c.(184-189)ctaaaafs	p.LK62fs	RUNX2_ENST00000465038.2_5'UTR|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.LK62fs|RUNX2_ENST00000483243.1_3'UTR|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000371438.1_5'UTR|SUPT3H_ENST00000459689.1_Intron			Q13950	RUNX2_HUMAN	runt-related transcription factor 2	0	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGTTCTATCTGAAAAAAAAAGG	0.386													8	354	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)aaafs	p.K850fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs			P33981	TTK_HUMAN	TTK protein kinase	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													9	663	---	---	---	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:89891719_89891721delAAG	ENST00000435811.1	-	7	1255_1257	c.801_803delCTT	c.(799-804)ttg>tt	p.FL267del	GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													9	461	---	---	---	---					
UTRN	7402	broad.mit.edu	37	6	144769847	144769849	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:144769847_144769849delCCT	ENST00000367545.3	+	16	2014_2016	c.2014_2016delCCT	c.(2014-2016)del	p.P677del		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	677	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.P672H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGGAACTGCCTCCTCCTCCTC	0.409													8	375	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:146755630_146755632delGAC	ENST00000361719.2	+	9	3753_3755	c.3283_3285delGAC	c.(3283-3285)del	p.D1099del	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGCCCGCGGACGACGACGACG	0.650													9	655	---	---	---	---					
THSD7A	221981	broad.mit.edu	37	7	11871469	11871470	+	In_Frame_Ins	INS	-	-	GCAGCG			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:11871469_11871470insGCAGCG	ENST00000423059.3	-	1	354_355	c.103_104insCGCTGC	c.(103-105)cct>CGCTGCcct	p.34_35insRC		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	34						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		cagcagcaggagcagcggcagc	0.772										HNSCC(18;0.044)			7	78	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120					NR_002164.1																						CGTTCTACCAgtttttttttgt	0.441													7	422	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													7	444	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-	rs137989738		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)del	p.S745del	DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													9	306	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728932	37728933	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:37728932_37728933insT	ENST00000330843.4	-	4	3399_3400	c.3387_3388insA	c.(3385-3390)aaccacfs	p.NH1129fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGCTGTGGCTTTTTTTTGAG	0.545											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	776	---	---	---	---					
CNTNAP3	79937	broad.mit.edu	37	9	39149853	39149853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:39149853delC	ENST00000297668.6	-	10	1672	c.1599delG	c.(1597-1599)gcfs	p.A533fs	CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	533	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AACTCCCCAGCGCCCCCTGCT	0.542													7	72	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													14	61	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													11	304	---	---	---	---					
HELLS	3070	broad.mit.edu	37	10	96331163	96331163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:96331163delA	ENST00000348459.5	+	7	559	c.454delA	c.(454-456)aafs	p.K153fs	HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_Stop_Codon_Del	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	153					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTGTGGCTAAAAAAAATAA	0.254													7	249	---	---	---	---					
TBC1D10C	374403	broad.mit.edu	37	11	67177148	67177149	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:67177148_67177149insG	ENST00000312390.5	+	10	1293_1294	c.1264_1265insG	c.(1264-1266)ggcfs	p.G422fs	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G422fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	422	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCCTGACTCGGGCCCGGGGC	0.698													9	99	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tat>t	p.YD455del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	455	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				9	236	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)aaafs	p.K223fs	CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					12	750	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													8	184	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:57674205_57674207delTGC	ENST00000402412.1	-	14	1668_1670	c.1278_1280delGCA	c.(1276-1281)caa>ca	p.QQ426del	R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576													11	324	---	---	---	---					
CATSPERB	79820	broad.mit.edu	37	14	92126248	92126249	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr14:92126248_92126249delAA	ENST00000256343.3	-	15	1520_1521	c.1364_1365delTT	c.(1363-1365)tfs	p.F455fs		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	455					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAAAACTATGAAAAGTCTTCTT	0.337													8	578	---	---	---	---					
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)del	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645													7	114	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42003383	42003385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:42003383_42003385delCAG	ENST00000219905.7	+	8	3101_3103	c.2920_2922delCAG	c.(2920-2922)del	p.Q981del	MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	981	Gln-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCGGCAGGCACAGCAGCAGCAGC	0.458													7	369	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													7	104	---	---	---	---					
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:677579_677580insC	ENST00000535977.1	+	7	1025_1026	c.803_804insC	c.(802-804)accfs	p.T268fs	RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													10	322	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)del	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													9	309	---	---	---	---					
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													9	75	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													11	325	---	---	---	---					
GSE1	23199	broad.mit.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:85682289_85682290insC	ENST00000253458.7	+	3	534_535	c.358_359insC	c.(358-360)cccfs	p.P120fs	GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein									p.V123fs*2(1)									CGTGCCCAGCACCCCCCCCGTG	0.688													9	454	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACCACC	rs61462443		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:7750177_7750178insACCACC	ENST00000254846.5	+	9	1141_1142	c.752_753insACCACC	c.(751-753)tcc>tACCACCcc	p.251_251S>YHP	KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YHP	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	251	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccaccac	0.614													10	88	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44117226	44117239	+	Frame_Shift_Del	DEL	TGGAAATGCAGGCT	TGGAAATGCAGGCT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:44117226_44117239delTGGAAATGCAGGCT	ENST00000262419.6	-	8	2502_2515	c.2032_2045delAGCCTGCATTTCCA	c.(2032-2046)gfs	p.SLHFQ678fs	KANSL1_ENST00000393476.3_Frame_Shift_Del_p.SLHFQ35fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.SLHFQ678fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	678						MLL1 complex	protein binding										CAGCATGCTCTGGAAATGCAGGCTTGTGGGAACA	0.463													15	727	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													7	87	---	---	---	---					
ZACN	353174	broad.mit.edu	37	17	74077980	74077982	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:74077980_74077982delCTG	ENST00000334586.5	+	8	981_983	c.898_900delCTG	c.(898-900)del	p.L304del	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	304	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTTCACCATCCTGCTGCTGCTGC	0.655													8	451	---	---	---	---					
DENND1C	79958	broad.mit.edu	37	19	6477251	6477251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:6477251delG	ENST00000381480.2	-	8	603	c.491delC	c.(490-492)ctfs	p.P164fs	DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	164	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCCCGGGTAGGGGGGGGGAT	0.672													7	224	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:16640581_16640583delTGC	ENST00000546361.2	-	8	1156_1158	c.1005_1007delGCA	c.(1003-1008)caa>ca	p.QQ339del	CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	339	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													8	146	---	---	---	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:17160706_17160707delGA	ENST00000593360.1	-	10	3044_3045	c.1026_1027delTC	c.(1024-1029)tcgtfs	p.SR342fs	HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	403					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						CTCCCTGAACGAGAGAGAGAGG	0.495													7	991	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													11	514	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)ggc>g	p.EG705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													12	576	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													11	444	---	---	---	---					
TEAD2	8463	broad.mit.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49850472_49850473insG	ENST00000377214.4	-	8	1254_1255	c.892_893insC	c.(892-894)tgcfs	p.C298fs	TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs			Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564													7	924	---	---	---	---					
BRSK1	84446	broad.mit.edu	37	19	55815035	55815036	+	Splice_Site	INS	-	-	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:55815035_55815036insC	ENST00000309383.1	+	12	1404_1405	c.1126_splice	c.e12-1	p.A376_splice	BRSK1_ENST00000326848.7_Splice_Site_p.A71_splice|BRSK1_ENST00000590333.1_Splice_Site_p.A392_splice	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	376					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGTCCCTCAGACCCCCCCCGGA	0.579													10	381	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371													13	313	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729754	23729754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr20:23729754delC	ENST00000304749.2	-	2	311	c.241delG	c.(241-243)tgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Del_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					AAGTAATTCACCCCCCCAACG	0.552													7	751	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													9	37	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcc>g	p.AS587del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	587					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596													11	877	---	---	---	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaa>ga	p.EE367del	RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													12	422	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													7	472	---	---	---	---					
PLXNA3	55558	broad.mit.edu	37	X	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtfs	p.V14fs		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682													9	274	---	---	---	---					
