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
AKAP13	11214	broad.mit.edu	37	15	86124353	86124353	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:86124353G>A	ENST00000394518.2	+	7	3149	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	AKAP13_ENST00000361243.2_Silent_p.V1018V	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1018					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCCTGGTGCCACCAGGAG	0.572000													5	295					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75634627	75634627	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:75634627C>T	ENST00000451157.1	-	6	718	c.549G>A	c.(547-549)aaG>aaA	p.K183K	STYXL1_ENST00000248600.1_Silent_p.K183K|STYXL1_ENST00000431581.1_Silent_p.K183K|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Silent_p.K183K|STYXL1_ENST00000340062.5_Silent_p.K87K			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	183	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTTTCAAGTCCTTCTGAATCT	0.398000													55	298					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083214	171083214	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:171083214G>A	ENST00000367755.4	+	7	1006	c.895G>A	c.(895-897)Gta>Ata	p.V299I	FMO3_ENST00000392085.2_Missense_Mutation_p.V299I|FMO3_ENST00000542847.1_Missense_Mutation_p.V279I|FMO3_ENST00000538429.1_Missense_Mutation_p.V236I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	299					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTGTGTCCGTAAAGCCTAA	0.448000													5	375					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													16	612					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351452	43351452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:43351452C>T	ENST00000395891.1	+	4	723	c.118C>T	c.(118-120)Cga>Tga	p.R40*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAGCCGCTCCGATACAGCTA	0.617000													54	239					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655036	142655036	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142655036T>G	ENST00000355265.2	-	6	1024	c.550A>C	c.(550-552)Aaa>Caa	p.K184Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	184					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)					GAAGTCCATTTACCAGAGATG	0.517000													38	162					0	0	1	0	0
UGT1A8	0	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G	rs150485330		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3												p.T4A(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATGGCTCGCACAGGGTGGAC	0.562000													5	325					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													5	27					5.9392e-07	6.32237e-07	1	1	0
SLC2A7	155184	broad.mit.edu	37	1	9085071	9085071	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:9085071G>A	ENST00000400906.1	-	2	113	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	38						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTTGTAGCCGTACTGGAAGG	0.647000													45	228					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468799	64468799	+	Splice_Site	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:64468799G>C	ENST00000358025.3	+	29	4016	c.3786_splice	c.e29+1	p.R1262_splice	SYNE2_ENST00000554584.1_Splice_Site_p.R1262_splice|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Splice_Site_p.R1262_splice	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1262					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACACCTAAGGGTAAGTATAT	0.368000													80	315					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705012	101705012	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:101705012T>G	ENST00000305352.6	+	2	847	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	158					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GAGCAATAACTTCCGCCTCTT	0.557000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	279					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137593107	137593107	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:137593107C>T	ENST00000371817.3	+	4	996	c.582C>T	c.(580-582)agC>agT	p.S194S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	194	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGACCGCAGCGACCACCCCA	0.522000													37	144					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687000													26	90					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810974	123810974	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:123810974G>A	ENST00000307033.2	+	1	725	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTGGGATCGTACACAGCAC	0.512000													7	811					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													7	61					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696487	48696487	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:48696487C>T	ENST00000544264.1	-	1	3861	c.3581G>A	c.(3580-3582)cGc>cAc	p.R1194H	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1194H			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1194	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGGGATGCGCCCAATAAT	0.537000													5	228					0	0	1	0	0
PCDHA1	0	broad.mit.edu	37	5	140167336	140167336	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140167336C>T	ENST00000504120.2	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA1_ENST00000378133.3_Silent_p.N487N|PCDHA1_ENST00000394633.3_Silent_p.N487N	NM_018900.2	NP_061723.1												p.N487K(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657000													102	362					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920907	247920907	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:247920907G>T	ENST00000408896.2	-	1	1075	c.802C>A	c.(802-804)Cct>Act	p.P268T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCGCTCTCAGGCATATGGGGG	0.517000													119	278					8.64887e-64	9.97947e-64	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129185988	129185988	+	Missense_Mutation	SNP	G	G	A	rs143047034		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:129185988G>A	ENST00000540052.1	+	11	4894	c.4850G>A	c.(4849-4851)cGc>cAc	p.R1617H	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1617H	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1617					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGTGTCCCGCGGGTAAGTG	0.527000													61	231					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20508209	20508209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:20508209G>A	ENST00000361078.2	-	5	677	c.655C>T	c.(655-657)Cct>Tct	p.P219S	PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000338086.5_Missense_Mutation_p.P219S|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S|PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	219	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGTTTCAGGATTTGAAAAT	0.448000													107	522					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													5	27					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413000													7	882					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149																											GGTACGTGCCCCGCGCTGTGC	0.711000													5	187					0	0	1	0	0
PTPN12	0	broad.mit.edu	37	7	77212936	77212936	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:77212936T>G	ENST00000248594.6	+	4	622	c.350T>G	c.(349-351)tTt>tGt	p.F117C	PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	117	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GTAATAGATTTTTGGAGGATG	0.299000													57	278					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													6	54					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897102	11897102	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:11897102A>G	ENST00000346436.6	+	19	2079	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	676					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACGGAGCCAGTCCATGAAG	0.602000													70	219					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39177931	39177931	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:39177931G>A	ENST00000301819.6	+	23	3229	c.3052G>A	c.(3052-3054)Gcc>Acc	p.A1018T	TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.A1017T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1017							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTGAATTGGCCAAGAAGGT	0.438000													7	439					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:3980040G>C	ENST00000309311.6	-	10	1459	c.1371C>G	c.(1369-1371)taC>taG	p.Y457*		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627000													18	110					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132415576	132415576	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:132415576G>A	ENST00000337331.5	-	15	2256	c.2171_splice	c.e15+1	p.R724_splice	NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	724					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCACTCACCGCGCGATCATT	0.458000													204	848					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100157191	100157191	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:100157191G>A	ENST00000370575.4	-	6	584	c.536C>T	c.(535-537)gCg>gTg	p.A179V	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	179							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CACGGGGGCCGCATCCAGCAG	0.572000													5	372					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17169885	17169885	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:17169885C>A	ENST00000377833.4	-	3	356	c.291G>T	c.(289-291)ggG>ggT	p.G97G	CUBN_ENST00000377823.1_Silent_p.G97G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	97					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATTGCACTCCCTTTTAACT	0.323000													100	587					5.77253e-36	6.47937e-36	1	1	0
POM121L9P	0	broad.mit.edu	37	22	24656904	24656904	+	RNA	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:24656904C>T	ENST00000414583.2	+	0	1977					NR_003714.1																						GCTGTTTCAACGCCACCACCA	0.602000													5	38					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52387151	52387151	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:52387151C>G	ENST00000420323.2	+	19	3321	c.3060C>G	c.(3058-3060)ttC>ttG	p.F1020L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1020	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAAGGAGTTCCAACCCTACC	0.602000													5	138					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728171	50728171	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:50728171G>A	ENST00000449103.1	-	3	983	c.843C>T	c.(841-843)gcC>gcT	p.A281A	PLXNB2_ENST00000359337.4_Silent_p.A281A			O15031	PLXB2_HUMAN	plexin B2	281	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGAGGCGGCCAGGCAGG	0.662000													24	138					0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1843655	1843655	+	Translation_Start_Site	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:1843655C>A	ENST00000415638.3	-	0	78				IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000215539.3_De_novo_Start_InFrame	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGGGCCATCCTGCATGCAGG	0.716000													5	31					0.00198382	0.00207171	1	1	0
CNKSR2	22866	broad.mit.edu	37	X	21627423	21627423	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:21627423T>C	ENST00000425654.2	+	19	2770	c.2290T>C	c.(2290-2292)Ttc>Ctc	p.F764L	CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.F794L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	794					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGATTCTGTCTTCTCTGACTC	0.567000													5	199					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13825811	13825811	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:13825811C>T	ENST00000324750.3	+	1	269	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	16					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AACCTGAATGCCACAGAGGGC	0.438000													6	365					0	0	1	0	0
LILRB5	0	broad.mit.edu	37	19	54754989	54754989	+	Missense_Mutation	SNP	T	T	G	rs686335		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:54754989T>G	ENST00000450632.1	-	13	1723	c.1646A>C	c.(1645-1647)gAg>gCg	p.E549A	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	556					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.E549A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTTTCACCTCGGCATACGT	0.582000													6	59					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105474175	105474175	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:105474175C>A	ENST00000345080.4	+	3	404	c.201C>A	c.(199-201)agC>agA	p.S67R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	67	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTTACAGAGCAAACTATTCA	0.338000													76	350					2.00396e-56	2.2962e-56	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15928366	15928366	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667000													19	73					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40339267	40339267	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:40339267G>A	ENST00000310169.2	+	3	390	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	84					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.R84H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TTGTGGATCCGCCAAATCTGG	0.483000													5	146					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													10	115					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6239823	6239823	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:6239823C>T	ENST00000400104.3	-	9	801	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.V201M			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	201					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCCTGTCCACGGCCTCCAGC	0.463000													5	318					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532543	92532543	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:92532543G>A	ENST00000298047.6	+	9	6381	c.6364G>A	c.(6364-6366)Gtc>Atc	p.V2122I	FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2122	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V2122L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGACCTATGTCCTGCAGGA	0.423000										TCGA Ovarian(4;0.039)			23	106					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1074737	1074737	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:1074737C>A	ENST00000264930.5	-	16	2060	c.2017G>T	c.(2017-2019)Gcc>Tcc	p.A673S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	673					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGTAGCGGGCGGCGTTCAGG	0.672000													38	163					5.20006e-24	5.75846e-24	1	1	0
FOXF1	2294	broad.mit.edu	37	16	86544569	86544569	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:86544569T>C	ENST00000262426.4	+	1	437	c.394T>C	c.(394-396)Ttc>Ctc	p.F132L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	132					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGAGTTCATGTTCGAGGAGGG	0.632000													139	444					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694601	6694601	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:6694601G>A	ENST00000245907.6	-	24	3087	c.2995C>T	c.(2995-2997)Cgg>Tgg	p.R999W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	999					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCTTCAGCCGTTCCGCGTCG	0.622000													29	227					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132307148	132307148	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:132307148G>A	ENST00000331898.7	-	4	1210	c.632C>T	c.(631-633)cCc>cTc	p.P211L	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.P211L|OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000524381.1_Missense_Mutation_p.P204L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	211	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CCGCACATCGGGCGCAGCGAC	0.542000													39	294					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73062286	73062286	+	RNA	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:73062286C>A	ENST00000429829.1	-	0	10302					NR_001564.2																						AAGAATGGTTCTTGTCCCCAG	0.408000													3	42					0.004672	0.0048483	1	1	0
ASNSD1	54529	broad.mit.edu	37	2	190535201	190535201	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:190535201C>T	ENST00000260952.4	+	6	2094	c.1681C>T	c.(1681-1683)Cta>Tta	p.L561L	ASNSD1_ENST00000607062.1_Silent_p.L80L	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	561	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTCTCCTTTCTAAATTCTCT	0.353000													97	410					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967400	4967400	+	Missense_Mutation	SNP	G	G	A	rs2436782	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:4967400G>A	ENST00000380373.2	-	1	956	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	311			R -> W (in dbSNP:rs2436782).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAATCTTCCGTTGACACAAT	0.343000													28	811					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038886	31038886	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:31038886C>T	ENST00000355537.3	+	4	2507	c.2360C>T	c.(2359-2361)gCc>gTc	p.A787V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	787					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A787D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGACTATGCCGGCACGCAG	0.512000													5	398					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352050	10352050	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:10352050C>A	ENST00000255381.2	-	32	4526	c.4416G>T	c.(4414-4416)gaG>gaT	p.E1472D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1472					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGGAGGCCTCAAGTTCAG	0.448000													5	311					5.9392e-07	6.32237e-07	1	1	0
TUBB8P7	0	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													8	555					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46357673	46357673	+	Silent	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:46357673G>A	ENST00000245934.7	-	2	325	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	27	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCATGCCATCGATGCCCGGCC	0.617000													4	188					0	0	1	0	0
AP000304.12	0	broad.mit.edu	37	21	35281465	35281465	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:35281465C>T	ENST00000429238.1	-	2	93	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	ATP5O_ENST00000290299.2_Silent_p.V83V																							TGGAACGCTTCACATAGGGAT	0.368000													63	269					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350085	89350085	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:89350085C>A	ENST00000301030.4	-	9	3325	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L	ANKRD11_ENST00000378330.2_Silent_p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	955	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCAGCTCTCCAGGGCGTCCT	0.612000													111	381					6.46527e-39	7.30664e-39	1	1	0
ATP6V1H	51606	broad.mit.edu	37	8	54684564	54684564	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:54684564C>T	ENST00000355221.3	-	9	1539	c.980G>A	c.(979-981)aGt>aAt	p.S327N	ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.S345N	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	345					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTCCTGGACACTCTCTCCAAG	0.373000													126	311					0	0	1	0	0
GRM8	0	broad.mit.edu	37	7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:126173853G>A	ENST00000339582.2	-	9	2391	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.T528M|GRM8_ENST00000358373.3_Missense_Mutation_p.T528M			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	528					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCTTTCACCGTTTTCTTCCT	0.542000										HNSCC(24;0.065)			53	363					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455476	179455476	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:179455476C>T	ENST00000589042.1	-	304	61200	c.60976G>A	c.(60976-60978)Gct>Act	p.A20326T	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18685T|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18685	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTCAGCGATAGGTGTT	0.443000													7	484					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158914733	158914733	+	Silent	SNP	G	G	A	rs150828296		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:158914733G>A	ENST00000368140.1	+	7	1505	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	PYHIN1_ENST00000392254.2_Silent_p.Q420Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.Q411Q|PYHIN1_ENST00000392252.3_Silent_p.Q411Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	420					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACAGAGTCAGCATCCAAAAC	0.458000													5	360					0	0	1	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61906986	61906986	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:61906986G>T	ENST00000370275.4	+	2	146	c.54G>T	c.(52-54)gaG>gaT	p.E18D	ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R2I|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E18D|ARFGAP1_ENST00000547204.1_5'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E18D			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	18	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TGCAGGATGAGAACAACGTAA	0.517000													4	141					0.217242	0.217242	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20056245	20056245	+	Silent	SNP	C	C	T	rs116838168	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:20056245C>T	ENST00000245957.5	+	6	628	c.552C>T	c.(550-552)caC>caT	p.H184H	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.H184H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	184										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCAGCTGCACGTTCGCAAAG	0.478000													92	437					0	0	1	0	0
C12orf63	0	broad.mit.edu	37	12	97112291	97112291	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:97112291C>T	ENST00000524981.3	+	16	2148	c.2148C>T	c.(2146-2148)agC>agT	p.S716S				Q6ZTY8	CL063_HUMAN		690										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TCACTCTTAGCATGCTAAAGG	0.343000													62	299					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													11	94					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238112	69238112	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:69238112A>G	ENST00000310673.3	+	2	393	c.239A>G	c.(238-240)cAt>cGt	p.H80R	NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	80					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTAGTTACACATGGAGACGCT	0.403000													9	414					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162637	33162637	+	RNA	SNP	C	C	T	rs1842247		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:33162637C>T	ENST00000510327.1	-	0	346																											TGTCCCACTACGTGCTGCCCC	0.468000													17	115					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687258	3687258	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:3687258C>T	ENST00000344754.4	-	2	144	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	49	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCACCTCCACGTCGGCAGGG	0.672000													3	64					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147855	67147855	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:67147855C>T	ENST00000371037.4	+	15	1195	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	373	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTACTATCGCCGCTCAATTTA	0.542000													119	427					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15615	15615	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrM:15615G>A	ENST00000361789.2	+	1	869	c.869G>A	c.(868-870)gGc>gAc	p.290_290insD						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CAAACTAGGAGGCGTCCTTGC	0.463000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	3	14					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61L(73)|p.Q61R(56)|p.Q61P(12)	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)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			67	297					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	112005603	112005603	+	Silent	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:112005603A>G	ENST00000305815.5	-	2	288	c.36T>C	c.(34-36)acT>acC	p.T12T	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Silent_p.T12T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	12					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GGAGGTCCTCAGTACTGAAAA	0.353000													8	235					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612013	120612013	+	Missense_Mutation	SNP	G	G	A	rs150390977	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:120612013G>A	ENST00000256646.2	-	1	227	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	3					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.A3V(3)		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)		GGGGCGCAGGGCGGGCATCTT	0.746000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	62					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:66377374G>A	ENST00000299608.2	-	4	465	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	50	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323000													4	181					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													6	300					4.096e-09	4.44632e-09	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413912	105413912	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105413912C>T	ENST00000333244.5	-	7	7995	c.7876G>A	c.(7876-7878)Gat>Aat	p.D2626N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2626						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCGCACCATCCAGCTTTGCT	0.592000													9	1268					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892284	16892284	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:16892284G>C	ENST00000430580.2	-	27	3795	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	970	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTGCCTCCAGCAGCTCCCTG	0.493000													15	1831					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140751953	140751953	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140751953C>T	ENST00000576222.1	+	1	2123	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCAGATAGCT	0.607000													72	297					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													6	612					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19488791	19488791	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:19488791G>A	ENST00000396229.2	+	13	2869	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	TMC5_ENST00000561503.1_Missense_Mutation_p.G348D|TMC5_ENST00000541464.1_Missense_Mutation_p.G655D|TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000564959.1_Missense_Mutation_p.G390D|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	707						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATCATTGGCATTCTTTGT	0.383000													111	493					0	0	1	0	0
IGHV4-61	0	broad.mit.edu	37	14	107095380	107095380	+	RNA	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:107095380A>G	ENST00000390630.2	-	0	200																											AGGGTCTCCGAAGGCTTCACC	0.637000													4	157					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196709747	196709747	+	Splice_Site	SNP	A	A	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:196709747A>T	ENST00000367429.4	+	18	3022		c.e18-1			NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H						complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTTTTTTTTAGGCCTTCCTT	0.303000													7	603					0	0	1	0	0
CTDSP1	58190	broad.mit.edu	37	2	219266400	219266400	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:219266400C>T	ENST00000273062.2	+	2	517	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	61					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGGGCGCCCCTGCTTGT	0.667000													36	126					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1056510	1056510	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:1056510A>G	ENST00000382251.3	+	5	1252	c.923A>G	c.(922-924)gAt>gGt	p.D308G	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.D308G			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	308					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ACCTGCCTTGATTTAACCATG	0.458000													51	242					0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74146664	74146664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:74146664G>T	ENST00000409624.1	+	10	1736	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*|ACTG2_ENST00000409731.3_Nonsense_Mutation_p.E322*			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	365					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TGAGTATGATGAGGCAGGGCC	0.532000													6	299					0.0215528	0.0219519	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21640427	21640427	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:21640427G>A	ENST00000328843.6	+	16	3165	c.3134G>A	c.(3133-3135)cGa>cAa	p.R1045Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1045Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1045	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGATGATCGAGCTGAGTTT	0.448000									Kartagener syndrome				136	763					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185417	127185417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:127185417G>A	ENST00000371124.3	-	1	965	c.769C>T	c.(769-771)Caa>Taa	p.Q257*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	257						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGGGCACTTGGTACAGCTCA	0.542000													6	416					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21875121	21875121	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:21875121C>G	ENST00000399982.2	-	13	2865	c.2801G>C	c.(2800-2802)tGt>tCt	p.C934S	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.C655S|CHD8_ENST00000557364.1_Missense_Mutation_p.C934S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	934	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCTCAGGACAATCTGACAA	0.438000													16	82					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56401610	56401610	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:56401610C>T	ENST00000348428.3	+	12	1730	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	MALT1_ENST00000345724.3_Missense_Mutation_p.A480V|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	491	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTGGATATGCCACGTAAGAA	0.403000			T	BIRC3	MALT								4	218					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807951	8807951	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:8807951G>C	ENST00000324436.3	-	1	1221	c.1101C>G	c.(1099-1101)caC>caG	p.H367Q		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	367						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCACCACCACGTGGGTCTCGG	0.677000													28	156					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160198	104160198	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:104160198T>G	ENST00000414303.2	+	1	200	c.136T>G	c.(136-138)Tat>Gat	p.Y46D		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	46					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ATGTGAGCGATATTTAGCTCC	0.423000													319	1040					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94620456	94620456	+	Silent	SNP	C	C	T	rs139278274	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:94620456C>T	ENST00000258526.4	+	8	2115	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	622					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACAGCTTGCGACCCTTCTG	0.483000													5	451					0	0	1	0	0
LILRB5	0	broad.mit.edu	37	19	54754990	54754990	+	Missense_Mutation	SNP	C	C	G	rs686334		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:54754990C>G	ENST00000450632.1	-	13	1722	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	556					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTTTCACCTCGGCATACGTC	0.582000													6	60					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37310991	37310991	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:37310991C>A	ENST00000356725.4	-	5	375	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTAATAACTTCTTGGTCTGAC	0.323000													11	354					1.41608e-15	1.55769e-15	1	1	0
NEIL2	252969	broad.mit.edu	37	8	11637109	11637109	+	Silent	SNP	C	C	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:11637109C>G	ENST00000284503.6	+	3	740	c.141C>G	c.(139-141)gtC>gtG	p.V47V	NEIL2_ENST00000436750.3_Silent_p.V47V|NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_5'UTR	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	47					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TTTTCTAGGTCCATGGAAAGA	0.468000								Base excision repair (BER), DNA glycosylases					136	437					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113078701	113078701	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:113078701C>T	ENST00000316851.7	+	6	863	c.863C>T	c.(862-864)gCg>gTg	p.A288V	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.A180V|NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	298	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGCAGGATGCGACCATCCAC	0.537000													4	60					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170526	53170526	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:53170526G>A	ENST00000332411.2	-	1	603	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	184	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCTGTTCCCGCTCCTGGGCC	0.557000													7	522					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166670	161166670	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:161166670G>A	ENST00000367996.4	-	2	1062	c.633_splice	c.e2-1	p.R212_splice	ADAMTS4_ENST00000367995.3_Splice_Site_p.R212_splice	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	212					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)			GAAGCAAAGCGCTGTAGAGAA	0.527000													164	769					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412337	105412337	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105412337G>A	ENST00000333244.5	-	7	9570	c.9451C>T	c.(9451-9453)Ccg>Tcg	p.P3151S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.597000													7	816					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26919394	26919394	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:26919394A>G	ENST00000397292.3	-	9	1748	c.1331T>C	c.(1330-1332)cTg>cCg	p.L444P	PLAA_ENST00000520884.1_Missense_Mutation_p.L444P|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	444	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TACTTGATCCAGAAACATAGG	0.353000													16	586					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639630	44639630	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:44639630G>A	ENST00000372330.3	+	4	609	c.590G>A	c.(589-591)gGc>gAc	p.G197D		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	197					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCTGGCCCCGGCATTCAGGGA	0.602000													7	398					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:7578555C>A	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	79					1.414e-09	1.5451e-09	1	1	0
NOTUM	147111	broad.mit.edu	37	17	79914915	79914915	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:79914915C>T	ENST00000409678.3	-	7	1114	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	244				R -> L (in Ref. 1; AAH36872).		extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTCAGCCACACGGTCCACATT	0.662000													25	127					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98157035	98157035	+	Missense_Mutation	SNP	G	G	A	rs142713663	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:98157035G>A	ENST00000357947.3	-	11	1517	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	431	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGGGGCTCCGGGATCTTATC	0.577000													20	165					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	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	614					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541162	178541162	+	Silent	SNP	G	G	A	rs79606317		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:178541162G>A	ENST00000251582.7	-	22	3443	c.3342C>T	c.(3340-3342)aaC>aaT	p.N1114N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1114					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1114N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTCAATGTCGTTGTGCTTCC	0.587000													13	243					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	17					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20869179	20869179	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:20869179G>A	ENST00000262715.5	-	9	1553	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	TEP1_ENST00000556935.1_Missense_Mutation_p.R397W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	505	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTCCCCCGTAGGCTCAGC	0.542000													4	300					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576048	12576048	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:12576048C>T	ENST00000397732.3	-	4	859	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AACGTTTTCCCGCATTCTTTA	0.403000													126	564					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29049139	29049139	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:29049139G>A	ENST00000257189.4	+	12	1807	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	575					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAACAATCGGTGTGAGATG	0.527000													8	513					0	0	1	0	0
BNIP3P1	0	broad.mit.edu	37	14	28734253	28734253	+	RNA	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:28734253C>A	ENST00000550043.1	+	0	658																											TGAAAGTTTTCTTTCCATCTC	0.493000													5	243					0.014758	0.0151246	1	1	0
ST8SIA5	29906	broad.mit.edu	37	18	44272163	44272163	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:44272163C>A	ENST00000315087.7	-	3	940	c.280G>T	c.(280-282)Gcg>Tcg	p.A94S	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATGTTCATCGCCCATTTGCAC	0.522000													57	229					4.45325e-31	4.96478e-31	1	1	0
GLIS3	169792	broad.mit.edu	37	9	4118378	4118378	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:4118378C>T	ENST00000324333.10	-	3	828	c.635G>A	c.(634-636)gGc>gAc	p.G212D	GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	212					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCTGGCTGCCGGGCACCGG	0.736000													20	44					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43902866	43902866	+	Missense_Mutation	SNP	C	C	T	rs143602595		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:43902866C>T	ENST00000562955.1	+	42	5888	c.5888C>T	c.(5887-5889)gCg>gTg	p.A1963V	SZT2_ENST00000372442.1_Missense_Mutation_p.A1121V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2020						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGAGCTGTGCGCCCCGTGGG	0.567000													6	458					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979616	124979616	+	Silent	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:124979616C>A	ENST00000368416.1	+	4	618	c.558C>A	c.(556-558)atC>atA	p.I186I	NKAIN2_ENST00000368417.1_Intron|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Intron			Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	13						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CAAATGGAATCTGTGGGTAAA	0.453000													10	66					0.0581538	0.0585084	1	1	0
DDX46	9879	broad.mit.edu	37	5	134130654	134130654	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:134130654G>A	ENST00000452510.2	+	14	1899	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Missense_Mutation_p.V581I	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	581	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCTATTGAAGTACAAGTTGG	0.468000													145	481					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447451	226447451	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:226447451G>A	ENST00000272907.6	+	4	1731	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	440	Pro-rich.							p.V440I(1)									TCCCTCCCCCGTCAGCATGGG	0.642000													27	128					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569553	248569553	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:248569553C>A	ENST00000366474.1	+	1	258	c.258C>A	c.(256-258)ttC>ttA	p.F86L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCTTCTTCACCGCACTGA	0.443000													132	773					2.35797e-81	2.7399e-81	1	1	0
RNF114	55905	broad.mit.edu	37	20	48561946	48561946	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:48561946G>A	ENST00000244061.2	+	3	321	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	107					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CCGGTCCCACGTGGCTACTTG	0.458000													40	176					0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305839	39305839	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:39305839A>T	ENST00000343246.4	-	1	215	c.181T>A	c.(181-183)Tgc>Agc	p.C61S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	61	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgcagcagctaggg	0.667000													4	153					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													10	150					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102532	66102532	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:66102532C>T	ENST00000349533.6	+	20	3517	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1111					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTTATTCACGGACATCAGA	0.418000													48	175					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:187206814C>T	ENST00000264692.4	+	12	1504	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	F11_ENST00000403665.2_Missense_Mutation_p.R443C			P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358000													5	373					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular	zinc ion binding	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338000													6	174					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803697	142803697	+	RNA	SNP	A	A	C			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:142803697A>C	ENST00000423385.1	-	0	1268																											taaagccatcataacatctgt	0.338000													10	131					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25395511	25395511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:25395511C>T	ENST00000315368.3	+	11	1016	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.Q292*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CAAGTTTGTGCAGGTAAAGCA	0.353000													4	197					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231298879	231298879	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:231298879C>T	ENST00000444294.3	+	1	1022	c.164C>T	c.(163-165)tCg>tTg	p.S55L	TRIM67_ENST00000449018.3_Intron|TRIM67_ENST00000366653.5_Missense_Mutation_p.S55L|TRIM67_ENST00000366652.2_Missense_Mutation_p.S55L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	55						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCCCGGGGATCGGGGCTGCAG	0.741000													6	33					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006465	22006465	+	Silent	SNP	C	C	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22006465C>T	ENST00000306317.2	-	8	1144	c.855G>A	c.(853-855)ccG>ccA	p.P285P	LGI3_ENST00000424267.2_Silent_p.P261P	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	285					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACCACCATCGGCTTGCAGT	0.637000													41	82					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785279	1785279	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:1785279C>A	ENST00000539485.1	-	27	3674	c.3441G>T	c.(3439-3441)aaG>aaT	p.K1147N	ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.K1137N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1137					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCCAGTACTTGATGATAA	0.607000													15	77					4.7546e-09	5.12751e-09	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51944795	51944795	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:51944795G>A	ENST00000371117.3	-	5	568	c.293C>T	c.(292-294)tCt>tTt	p.S98F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	98	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGCTTCAGACAGCACAGA	0.473000													89	295					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttc>t	p.FI89del	VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	89					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													8	739	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	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				15	72	---	---	---	---					
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:145562117delA	ENST00000355594.4	+	10	1892	c.1805delA	c.(1804-1806)gafs	p.E602fs		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577													7	387	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155450526	155450527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:155450526_155450527insT	ENST00000368346.3	-	3	2773_2774	c.2134_2135insA	c.(2134-2136)aaafs	p.K712fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K712fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	712					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTCCTTTTCTTTTTTTTAAT	0.401													7	789	---	---	---	---					
SLC9C2	284525	broad.mit.edu	37	1	173552688	173552688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:173552688delA	ENST00000367714.3	-	6	1019	c.597delT	c.(595-597)ttfs	p.F199fs	SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	199					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GAAAATTTCCAAAAAAAATTG	0.279													8	888	---	---	---	---					
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)ttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTTCAAGCTCAAAAAAAATGC	0.562													8	422	---	---	---	---					
TRAPPC12-AS1	0	broad.mit.edu	37	2	3485818	3485818	+	RNA	DEL	C	C	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:3485818delC	ENST00000453806.1	-	0	264																											TCTGCCTGGACCCCTCCTGGC	0.617													2	4	---	---	---	---					
TGFBR2	7048	broad.mit.edu	37	3	30713755	30713758	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:30713755_30713758delCCTC	ENST00000295754.5	+	4	1462_1465	c.1080_1083delCCTC	c.(1078-1083)cafs	p.HL360fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATTGCTCACCTCCACAGTGATC	0.608													96	448	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aafs	p.K540fs	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353													11	618	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:39379288_39379290delCAG	ENST00000518318.2	+	5	601_603	c.559_561delCAG	c.(559-561)del	p.Q196del	POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													7	106	---	---	---	---					
FLNC	2318	broad.mit.edu	37	7	128495281	128495282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:128495281_128495282insA	ENST00000325888.8	+	43	7425_7426	c.7164_7165insA	c.(7162-7167)aaatgafs	p.*2389fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Ins_p.*2356fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2389					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAATGATGAGCACAT	0.624													70	521	---	---	---	---					
BMP1	649	broad.mit.edu	37	8	22054903	22054903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22054903delA	ENST00000306385.5	+	15	2747	c.2077delA	c.(2077-2079)aafs	p.K694fs	BMP1_ENST00000306349.8_Frame_Shift_Del_p.K694fs|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Frame_Shift_Del_p.K694fs	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	694	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CACCGTGTCCAAAAAGGGCTT	0.577													7	1028	---	---	---	---					
ADAM28	10863	broad.mit.edu	37	8	24167472	24167473	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:24167472_24167473insA	ENST00000265769.4	+	3	326_327	c.216_217insA	c.(214-219)ttaaaafs	p.LK72fs	ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Frame_Shift_Ins_p.LK72fs|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													8	637	---	---	---	---					
TTC16	158248	broad.mit.edu	37	9	130486669	130486670	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:130486669_130486670insG	ENST00000393748.4	+	7	1037_1038	c.615_616insG	c.(613-618)ggggggfs	p.GG205fs	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000373289.3_Intron|TTC16_ENST00000489226.1_Intron			Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	0							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGCACTGGGGAGGGGGGGTGCG	0.663													15	138	---	---	---	---					
GTF3C5	9328	broad.mit.edu	37	9	135933278	135933280	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:135933278_135933280delGAG	ENST00000372097.5	+	11	1794_1796	c.1471_1473delGAG	c.(1471-1473)del	p.E499del	GTF3C5_ENST00000342018.8_In_Frame_Del_p.E437del|GTF3C5_ENST00000372099.6_In_Frame_Del_p.E490del|GTF3C5_ENST00000372108.5_In_Frame_Del_p.E506del	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	499	Glu-rich.|Poly-Glu.					transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		cgaggaggatgaggaggaggagg	0.581													7	300	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													7	38	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61828727	61828729	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:61828727_61828729delGTG	ENST00000280772.1	-	37	12101_12103	c.11910_11912delCAC	c.(11908-11913)act>ac	p.TT3976del	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3976	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						agtggtggtagtggtggtggtgg	0.468													11	603	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:64952699delT	ENST00000399262.2	-	16	6293	c.6076_splice	c.e16+1	p.K2025_splice	JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373													9	446	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19256002	19256002	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:19256002delA	ENST00000527884.1	-	6	1065	c.833delT	c.(832-834)tgfs	p.L278fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	278					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTTGACACCAAAAACAGCAT	0.383													7	784	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del			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													7	205	---	---	---	---					
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)ttfs	p.F278fs	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													8	575	---	---	---	---					
BRI3BP	140707	broad.mit.edu	37	12	125478381	125478382	+	In_Frame_Ins	INS	-	-	CTG	rs61379857		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:125478381_125478382insCTG	ENST00000341446.8	+	1	136_137	c.45_46insCTG	c.(43-48)cttgct>ctCTGtgct	p.15_16LA>LCA		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	15						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		gggccgggctcctgctgctgct	0.822													2	4	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													11	49	---	---	---	---					
RP11-141M1.3	0	broad.mit.edu	37	13	33942665	33942667	+	RNA	DEL	CAG	CAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr13:33942665_33942667delCAG	ENST00000454681.2	-	0	308																											TAGCAAGAAAcagcagcagcagc	0.419													3	4	---	---	---	---					
BORA	79866	broad.mit.edu	37	13	73320117	73320117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr13:73320117delA	ENST00000390667.5	+	9	871	c.774delA	c.(772-774)gcfs	p.A258fs	BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	258	Ser-rich.				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										AGGCTAGTGCAAAAAAATACA	0.383													7	1051	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138373	20138374	+	RNA	INS	-	-	AAG	rs150133272		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:20138373_20138374insAAG	ENST00000548261.1	+	0	391																											GAAACAaaagaaagaaagaaag	0.396													8	25	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25304705	25304706	+	RNA	INS	-	-	A	rs78507856		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:25304705_25304706insA	ENST00000549804.2	+	0	98_99				SNHG14_ENST00000384733.1_RNA																							TGAGTCCCCCCAAAAAAACATT	0.505													7	1634	---	---	---	---					
C15orf48	84419	broad.mit.edu	37	15	45724278	45724279	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:45724278_45724279insA	ENST00000344300.3	+	3	321_322	c.131_132insA	c.(130-132)caafs	p.Q44fs	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.Q44fs	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	44						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		AGCCTTGATCGAAAAAAAAATC	0.322													7	352	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:102312241delA	ENST00000561463.1	+	0	13609																											AGTGGCCGGGAAATTTGCTGT	0.592													7	57	---	---	---	---					
SLC6A10P	0	broad.mit.edu	37	16	32896096	32896100	+	RNA	DEL	GAGGG	GAGGG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:32896096_32896100delGAGGG	ENST00000330048.5	-	0	233					NR_003083.2																						ggagggctgcgaggggaggggaggg	0.683													5	9	---	---	---	---					
CKLF	51192	broad.mit.edu	37	16	66599895	66599895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:66599895delA	ENST00000264001.4	+	4	589	c.440delA	c.(439-441)gafs	p.E147fs	CKLF_ENST00000532838.1_Intron|CKLF_ENST00000345436.4_Frame_Shift_Del_p.E115fs|CKLF_ENST00000362093.4_Frame_Shift_Del_p.E62fs|CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000351137.4_Frame_Shift_Del_p.E94fs	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		CCTGTGCATGAAAAAAAAGAA	0.363													8	381	---	---	---	---					
RP11-640N20.6	0	broad.mit.edu	37	17	30419112	30419113	+	RNA	DEL	AG	AG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:30419112_30419113delAG	ENST00000358484.4	+	0	144				RP11-640N20.8_ENST00000581225.1_RNA																							atgcaagcacagacacacacag	0.510													8	9	---	---	---	---					
PPM1D	8493	broad.mit.edu	37	17	58740624	58740624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:58740624delA	ENST00000305921.3	+	6	1761	c.1529delA	c.(1528-1530)cafs	p.Q510fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	510					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATGGACCAAAAAAATTTG	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	7	364	---	---	---	---					
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:76046980delA	ENST00000335749.4	+	3	2406	c.1837delA	c.(1837-1839)aafs	p.K614fs	TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													8	447	---	---	---	---					
RP11-161I6.2	0	broad.mit.edu	37	18	2127314	2127315	+	RNA	INS	-	-	TT	rs35166795	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:2127314_2127315insTT	ENST00000579097.1	-	0	132																											tcatgtctctctgcccagttca	0.515													4	5	---	---	---	---					
EXOSC5	56915	broad.mit.edu	37	19	41903203	41903203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:41903203delT	ENST00000221233.4	-	1	181	c.31delA	c.(31-33)tcfs	p.I11fs	CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Frame_Shift_Del_p.I11fs	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	11					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCAGCACGGATTTTGGCGTCA	0.647													7	674	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439844	43439845	+	RNA	INS	-	-	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:43439844_43439845insG	ENST00000406070.2	-	0	237_238				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACTT	0.485													255	1107	---	---	---	---					
PSG2	5670	broad.mit.edu	37	19	43585321	43585322	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:43585321_43585322insG	ENST00000406487.1	-	2	239_240	c.141_142insC	c.(139-144)gaggaafs	p.EE47fs		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	47	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACTT	0.480													11	1624	---	---	---	---					
ZNF701	55762	broad.mit.edu	37	19	53085864	53085864	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:53085864delA	ENST00000540331.1	+	5	975	c.750delA	c.(748-750)ccfs	p.P250fs	ZNF701_ENST00000391785.3_Frame_Shift_Del_p.P184fs|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Frame_Shift_Del_p.P250fs	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CCTGTAGGCCAAAAACTCGTA	0.383													9	607	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383													10	97	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885	by1000genomes	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390									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)		TGACTGAGATGTAAGTTGTTGG	0.446													7	1054	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													10	1232	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)del	p.Q188del	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	167	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42384560	42384561	+	RNA	DEL	AA	AA	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:42384560_42384561delAA	ENST00000411879.1	+	0	523																											CAGCCAAGGGAAAAAAAAAAAA	0.322													5	6	---	---	---	---					
TAF1	6872	broad.mit.edu	37	X	70642968	70642970	+	Splice_Site	DEL	AAG	AAG	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:70642968_70642970delAAG	ENST00000449580.1	+	30	4502_4504	c.4449_splice	c.e30-1	p.KE1484_splice	TAF1_ENST00000276072.3_Splice_Site_p.KE1505_splice|TAF1_ENST00000423759.1_Splice_Site_p.KE1505_splice|TAF1_ENST00000373790.4_Splice_Site_p.KE1484_splice			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1484	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAATTTCAGAAAGAAGACAAATT	0.443													95	250	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctg>ct	p.LQ596del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	596	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													8	242	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)atfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413													12	399	---	---	---	---